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NF1 Gene

protein-coding   GIFtS: 69
GCID: GC17P029421

Neurofibromin 1

  See NF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Neurofibromin 11 2     neurofibromatosis1
Neurofibromatosis-Related Protein NF-12 3     Von Recklinghausen Disease1
NFNS2 5     Watson Disease1
VRNF2 5     neurofibromin2
WSS2 5     

External Ids:    HGNC: 77651   Entrez Gene: 47632   Ensembl: ENSG000001967127   OMIM: 6131135   UniProtKB: P213593   

Export aliases for NF1 gene to outside databases

Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NF1 Gene:
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in
this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The
mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation
termination. Alternatively spliced transcript variants encoding different isoforms have also been described for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NF1 Gene:
NF1 (neurofibromin 1) is a protein-coding gene. Diseases associated with NF1 include optic pathway glioma, and neurofibromatosis. GO annotations related to this gene include Ras GTPase activator activity.

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
Function: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific
activity. May be a regulator of Ras activity

Gene Wiki entry for NF1 (Neurofibromin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NF1 promoter sequence
   Search Chromatin IP Primers for NF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

NF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P029421:  view genomic region     (about GC identifiers)

Start:
29,421,945 bp from pter      End:
29,709,134 bp from pter
Size:
287,190 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NF1_HUMAN, P21359 (See protein sequence)
Recommended Name: Neurofibromin  
Size: 2839 amino acids; 319372 Da
Rna editing: Modified_positions=1306; Note=The stop codon (UGA) at position 1306 is created by RNA editing.
Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1.
Preferentially observed in transcripts containing exon 23A
Caution: Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal dominant
syndrome
Sequence caution: Sequence=AAA59923.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6 PDB 3D structures from and Proteopedia for NF1:
1NF1 (3D)        2D4Q (3D)        2E2X (3D)        3P7Z (3D)        3PEG (3D)        3PG7 (3D)    
Secondary accessions: O00662 Q14284 Q14930 Q14931 Q9UMK3
Alternative splicing: 6 isoforms:  P21359-1   P21359-2   P21359-3   P21359-4   P21359-5   P21359-6   

Explore the universe of human proteins at neXtProt for NF1: NX_P21359

Explore proteomics data for NF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1517
  • Modification sites at PhosphoSitePlus

  • See NF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000258.1  NP_001035957.1  NP_001121619.1  

    ENSEMBL proteins: 
     ENSP00000351015   ENSP00000348498   ENSP00000412921   ENSP00000462408   ENSP00000467284  
     ENSP00000463682   ENSP00000389907   ENSP00000463819   ENSP00000462157   ENSP00000467080  
     ENSP00000462700   ENSP00000464678   ENSP00000464702   ENSP00000465138   ENSP00000396481  
     ENSP00000398991  

    NF1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NF1
    GenScript Custom Purified and Recombinant Proteins Services for NF1
    Novus Biologicals NF1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NF1

     
    Search eBioscience for Proteins for NF1 

    NF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NF1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NF1
    OriGene Custom Antibody Services for NF1
    Novus Biologicals NF1 Antibodies
    Abcam antibodies for NF1
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    ThermoFisher Antibody for NF1
    LSBio Antibodies in human, mouse, rat for NF1

    NF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NF1
    Cloud-Clone Corp. CLIAs for NF1
    Search eBioscience for ELISAs for NF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR001936 RasGAP
     IPR011989 ARM-like
     IPR008936 Rho_GTPase_activation_prot
     IPR001251 CRAL-TRIO_dom
     IPR023152 RasGAP_CS

    Graphical View of Domain Structure for InterPro Entry P21359

    ProtoNet protein and cluster: P21359

    2 Blocks protein domains:
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
    Domain: Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with
    monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine
    headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 Ras-GAP domain


    Find genes that share domains with NF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NF1_HUMAN, P21359
    Function: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific
    activity. May be a regulator of Ras activity

         Genatlas biochemistry entry for NF1:
    neurofibromin,Ras GTPase activating protein related (280kDa),signal transduction),with at least four alternatively
    spliced transcripts,with a developmental and tissue specific regulation of expression,also a mRNA editing site in
    exon 23 creating an in-frame codon stop,putatively involved in suppression of NF1 tumor and in juvenile
    myelomonocytic leukemia

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005099Ras GTPase activator activity IDA1568247
    GO:0005488binding ----
    GO:0005515protein binding IPI11356864
    GO:0008429phosphatidylethanolamine binding IDA17187824
         
    Find genes that share ontologies with NF1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for NF1:
     Decreased sensitivity to pacli  Increased cell number in G1, s  Stronger migration  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Nf1) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with NF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NF1: Nf1tm1Fcr Nf1tm2Tyj Nf1tm1Cbr Nf1tm1Tyj Nf1tm1.1Par

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NF1:
    hsa-mir-20a-3p (MIRT038968), hsa-mir-10b-5p (MIRT005504), hsa-let-7e-5p (MIRT051457), hsa-mir-370-3p (MIRT007052), hsa-mir-193b-3p (MIRT041324)

    Block miRNA regulation of human, mouse, rat NF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NF1 (see all 100):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidNF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NF1
    Predesigned siRNA for gene silencing in human, mouse, rat NF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NF1

    Clone
    Products:
         
    OriGene clones in human, mouse for NF1 (see all 14)
    OriGene ORF clones in mouse, rat for NF1
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    GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NF1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
    Addgene plasmids for NF1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    plasma membrane3
    cytoskeleton2
    extracellular2
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS1550670
    GO:0005737cytoplasm ISS1550670
    GO:0030424axon IDA1550670
    GO:0030425dendrite IDA1550670

    Find genes that share ontologies with NF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NF1 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Development VEGF signaling and activation
    Development VEGF signaling and activation0.75
    Development VEGF signaling via VEGFR2 generic cascades0.75
    3G protein signaling TC21 regulation pathway
    G protein signaling TC21 regulation pathway0.71
    G protein signaling M RAS regulation pathway0.71
    4ERK Signaling
    Molecular Mechanisms of Cancer0.51
    5Ras signaling pathway
    Ras signaling pathway0.36


    Find genes that share SuperPaths with NF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NF1
        Molecular Mechanisms of Cancer
    Glioblastoma Multiforme

    4 GeneGo (Thomson Reuters) Pathways for NF1
        G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling and activation

    Selected BioSystems Pathways for NF1 (see all 7)
        MAPK signaling pathway
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    pilocytic astrocytoma
    ATF-2 transcription factor network


    2 Kegg Pathways  (Kegg details for NF1):
        MAPK signaling pathway
    Ras signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NF1 (see all 6): 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NF1 (P213591, 2, 3 ENSP000003510154) via UniProtKB, MINT, STRING, and/or I2D (see all 694)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 3, ENSP000002849814EBI-1172917,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    YWHAEP622582, 3MINT-7947479 I2D: score=1 
    SUMO1P631652, 3, ENSP000003760764MINT-3380416 MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    SDC2P347411, 3, ENSP000003070464EBI-1172917,EBI-1172957 I2D: score=3 STRING: ENSP00000307046
    DNAJC7Q996153, ENSP000004064634I2D: score=2 STRING: ENSP00000406463
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 67):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ISS--
    GO:0001649osteoblast differentiation ISS--
    GO:0001656metanephros development ISS--
    GO:0001666response to hypoxia ISS--
    GO:0001889liver development ISS--

    Find genes that share ontologies with NF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NF1

    Selected Novoseek inferred chemical compound relationships for NF1 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mantgtp 61.7 1 12667087 (1)
    gtp 58.7 34 8262937 (2), 12667087 (2), 8626511 (2), 8437847 (2) (see all 21)
    gdp 38.3 9 8437847 (2), 8658179 (1), 10555980 (1), 12667087 (1) (see all 5)
    guanosine 34.3 10 1496380 (1), 8658179 (1), 9589427 (1), 8302341 (1) (see all 8)
    rapamycin 24.3 7 19634141 (1), 20154675 (1), 16267007 (1), 18316617 (1)
    succinate 13.7 1 17102089 (1)
    retinoic acid 12.3 3 9619634 (2), 7576949 (1)
    phosphatidylinositol 11.4 2 18271718 (1), 10398103 (1)
    tyrosine 7.37 9 16914719 (3), 15467451 (1), 17348023 (1), 16467864 (1) (see all 7)
    nacl 5.61 2 8262937 (1), 7887472 (1)



    Find genes that share compounds with NF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NF1 gene (3 alternative transcripts): 
    NM_000267.3  NM_001042492.2  NM_001128147.2  

    Unigene Cluster for NF1:

    Neurofibromin 1
    Hs.113577  [show with all ESTs]
    Unigene Representative Sequence: NM_001042492
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000487476(uc002hge.2) ENST00000358273(uc002hgg.3) ENST00000356175(uc002hgh.3 uc010cso.3)
    ENST00000431387(uc002hgf.2) ENST00000579081 ENST00000489712 ENST00000495910(uc010csn.2)
    ENST00000490416 ENST00000456735 ENST00000493220(uc002hgi.1) ENST00000466819
    ENST00000479614 ENST00000581113 ENST00000479536 ENST00000584328 ENST00000581790
    ENST00000471572 ENST00000582892
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NF1 (see all 100):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidNF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NF1
    Clone
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    OriGene ORF clones in mouse, rat for NF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NF1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
    Addgene plasmids for NF1 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NF1
      QuantiTect SYBR Green Assays in human, mouse, rat NF1
      QuantiFast Probe-based Assays in human, mouse, rat NF1

    Additional mRNA sequence: 

    AB209336.1 AF055023.1 AF086346.1 AK026658.1 AK289936.1 AK301970.1 AK302063.1 BC144643.1 
    BX648717.1 D12625.1 D42072.1 M38106.1 M38107.1 M60496.1 M60915.1 M61213.1 
    M82814.1 M89914.1 

    Selected DOTS entries (see all 26):

    DT.91768398  DT.100752198  DT.318104  DT.100752196  DT.97799977  DT.65285211  DT.100752195  DT.100664689 
    DT.91965143  DT.101975503  DT.95286460  DT.97791842  DT.100749793  DT.414179  DT.97771427  DT.120972573 
    DT.120973050  DT.414180  DT.100739552  DT.100749794  DT.75174633  DT.95286423  DT.97796593  DT.75120933 

    Selected AceView cDNA sequences (see all 299):

    S51751 F03464 BM013806 AA347181 AW082977 AW173779 BQ773049 CD244261 
    BM354015 AI273054 AA765377 BX281196 AA885527 CB243676 AI653317 BF059714 
    M60915 AA770360 BM683129 C20818 T81221 AA744370 AA714845 BU619171 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NF1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                  -                                         -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                  -                                                                                                         
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for NF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NF1 Expression
    About this image


    NF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Valve Cells Atrioventricular Valves
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
    NF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113577

    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
    Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NF1 (see all 6): 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NF1
    QuantiTect SYBR Green Assays in human, mouse, rat NF1
    QuantiFast Probe-based Assays in human, mouse, rat NF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NF1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nf11 , 5 neurofibromatosis 11, 5 91.58(n)1
    98.49(a)1
      11 (46.74 cM)5
    180151  NM_010897.21  NP_035027.11 
     793396935 
    chicken
    (Gallus gallus)
    Aves NF11 neurofibromin 1 83.83(n)
    95.52(a)
      396085  XM_004946786.1  XP_004946843.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    94(a)
    93(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343543.1(186580-194510)
    GL343543.1(78532-97063)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nf11 neurofibromin 1 79.61(n)
    92.09(a)
      100493879  XM_002936819.2  XP_002936865.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe06d032 Transcribed sequence with moderate similarity to protein more 75.63(n)    57060183 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nf11 , 3 cAMP-mediated signaling RAS GTPase
    activator3
    Neurofibromin 11
    55(a)3
    58.13(n)1
    60.43(a)1
      96F93
    431491  NM_170253.21  NP_733132.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRA2(YOL081W)4 GTPase-activating protein that negatively regulates more   --   15(171070-180309) 854073  NP_014560.1 


    ENSEMBL Gene Tree for NF1 (if available)
    TreeFam Gene Tree for NF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NF1 gene
    2 SIMAP similar genes for NF1 using alignment to 17 protein entries:     NF1_HUMAN (see all proteins):
    DKFZp686J1293    NF1 gene homologue

    Find genes that share paralogs with NF1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for NF1 (see all 9)
    PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NF1 (see all 5447)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378545571,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129603554(+) AAGCTA/GTAAGT 6 Y C mis10--------
    rs1427127511,2,,4
    C,FNeurofibromatosis 1 (NF1)4 untested129612562(+) AAATAC/G/TTGATC 4 V L mis12NA EU 5397
    rs1378545661,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129618176(+) CTTCCC/G/TTTGTG 6 P R L mis10--------
    rs1994747401,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129621122(+) CAAGCA/GTGGAA 4 M V mis10--------
    rs1994747641,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129621882(+) TGCCAA/GCGTAG 4 N S mis10--------
    rs1994747321,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129622145(+) CTGATC/G/TGGTTT 6 R G W mis10--------
    rs1378545561,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129624759(+) CTTCCA/C/GAGGCA 6 Q P R mis10--------
    rs1994747921,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129723644(+) ATGGCC/TGTCAA 4 P L mis10--------
    VAR_0355434
    A colorectal cancer sample4--see VAR_0355432 L I mis40--------
    VAR_0324674
    Neurofibromatosis 1 (NF1)4--see VAR_0324672 S R mis40--------

    HapMap Linkage Disequilibrium report for NF1 (29421945 - 29671945 bp, first 250kb of NF1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NF1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv3891CNV Deletion18987735
    esv2665363CNV Deletion23128226
    esv991002CNV Deletion20482838
    esv2715817CNV Deletion23290073
    esv2743057CNV Deletion23290073
    nsv827944CNV Loss20364138
    esv8375CNV Loss19470904
    esv990886CNV Loss20482838
    nsv512483CNV Loss21212237
    esv21835CNV Loss19812545

    Human Gene Mutation Database (HGMD): NF1
    Locus Specific Mutation Databases (LSDB): NF1

    Selected Site Specific Mutation Identification with PCR Assays for NF1 (see all 15):
    Cosmic IdAA Change
    24576p.K1444E
    24444p.R816*
    24443p.R1362*
    24486p.R304*
    24495p.Q514fs*43
    1 Site Specific Cancer Mutation PCR Panel containing NF1:
    Tumor Suppressor Panel 384HT
    1 Copy Number PCR Panel containing NF1:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing NF1
    DNA2.0 Custom Variant and Variant Library Synthesis for NF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613113   
    OMIM disorders: 162200  607785  162210  601321  193520  
    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
  • Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation
    (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin
    tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant
    tumors. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic
    syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell
    compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes,
    rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis,
    cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of
    neurofibromatosis, showing multiple spinal tumors. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and
    Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism,
    cardiac anomalies, deafness, motor delay, and a bleeding diathesis. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from
    the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with
    progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon
    and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene
    represented in this entry may be involved in disease pathogenesis

  • Selected diseases for NF1 (see all 41):    
    About MalaCards
    optic pathway glioma    neurofibromatosis    juvenile myelomonocytic leukemia    familial spinal neurofibromatosis
    17q11 microdeletion syndrome    17q11.2 microduplication syndrome    melanoma, desmoplastic neurotrophic    neurofibromatosis-noonan syndrome
    neurofibroma    watson syndrome    oculo-auriculo-vertebral spectrum    plexiform neurofibroma
    ring chromosome 22    wdha syndrome    cellular schwannoma    optic nerve glioma
    neurofibrosarcoma    pulmonic stenosis    multiple endocrine neoplasia    dental enamel hypoplasia

    16 diseases from the University of Copenhagen DISEASES database for NF1:
    Neurofibromatosis     Neurofibroma     Malignant peripheral nerve sheath tumor     Neurilemmoma
    Malignant glioma     Optic nerve glioma     Genetic disorder     Juvenile myelomonocytic leukemia
    Noonan syndrome     Paraganglioma     Meningocele     Gastrointestinal stromal tumor
    Hemangioma     Learning disability     Moyamoya disease     Hydrocephalus

    Find genes that share disorders with NF1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NF1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 1 97.1 238 7614817 (3), 9639526 (2), 9713168 (2), 10863097 (2) (see all 99)
    neurofibroma 91 80 15986446 (5), 11159187 (3), 10629698 (3), 17236191 (2) (see all 48)
    neurofibromatosis 89.5 57 8516298 (3), 1293176 (2), 8328449 (2), 9132486 (2) (see all 43)
    neurofibroma plexiform 83.5 7 19414372 (1), 16536802 (1), 17215493 (1), 17551851 (1) (see all 6)
    cafe-au-lait spots 83.1 6 10629698 (2), 8989459 (1), 15947937 (1), 8456833 (1) (see all 5)
    neurofibrosarcoma 81.9 8 8755348 (1), 7519874 (1), 8637706 (1), 10029430 (1) (see all 6)
    mpnst 81.3 26 19414372 (4), 12152785 (4), 11406645 (2), 10812008 (1) (see all 15)
    juvenile myelomonocytic leukemia 81 8 9639526 (2), 17353900 (2), 12393498 (1), 20015894 (1) (see all 8)
    malignant peripheral nerve sheath tumors 80.4 11 10534774 (1), 17348023 (1), 19414372 (1), 9354454 (1) (see all 10)
    watson syndrome 78.1 1 1770531 (1)

    Genatlas disease: NF1
    neurofibromatosis 1 (von Recklinghausen disease),characterized by cafe au lait spots,axillary freckling,Lisch
    nodules of the iris,multiple neurofibromas,tibial pseudarthrosis and a predisposition to certain benign and
    malignant tumors of the central and peripheral nervous system,with a variable expression even among relatives
    with the same mutation and apparently an earlier onset or a more severe form associated with deletions,including
    neurofibrosarcoma (see TSG17C),Watson disease (cafe au lait spots with pulmonic stenosis)

    GeneTests: NF1
    GeneReviews: NF1
    Genetic Association Database (GAD): NF1
    Human Genome Epidemiology (HuGE) Navigator: NF1 (38 documents)

    Export disorders for NF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for NF1 gene, integrated from 10 sources (see all 784) (see top 10):
    (articles sorted by number of sources associating them with NF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NF1 gene analysis based on DHPLC. (PubMed id 12552569)1, 2, 4, 9 De Luca A.... Dallapiccola B. (Hum. Mutat. 2003)
    2. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919)1, 2, 4 De Luca A.... Dallapiccola B. (Am. J. Hum. Genet. 2005)
    3. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PubMed id 15146469)1, 2, 4 De Luca A.... Dallapiccola B. (Hum. Mutat. 2004)
    4. Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. (PubMed id 11258625)1, 2, 4 Messiaen L.M.... Wallace M.R. (Genet. Med. 1999)
    5. Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960)1, 2, 9 Li Y.... Viskochil D. (Genomics 1995)
    6. Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. (PubMed id 13679444)1, 4, 9 Lasota J....Miettinen M. ( a journal of technical methods and pathology 2003)
    7. Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1. (PubMed id 7570581)1, 2, 9 Suzuki H.... Shibahara S. (Tohoku J. Exp. Med. 1995)
    8. Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247)1, 2, 9 Li Y.... Cawthon R.M. (Cell 1992)
    9. Genome wide molecular analysis of minimally differentiated acute myeloid leukemia. (PubMed id 19773259)1, 4, 9 Silva F.P....Giphart-Gassler M. (Haematologica 2009)
    10. Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. (PubMed id 19215943)1, 4, 9 Meyer-Rochow G.Y....Benn D.E. (J. Surg. Res. 2009)
    11. Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. (PubMed id 17102080)1, 4, 9 Korpershoek E....Dinjens W.N. (Ann. N. Y. Acad. Sci. 2006)
    12. NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PubMed id 12746402)1, 2, 9 Kluwe L.... Mautner V.F. (J. Med. Genet. 2003)
    13. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PubMed id 9668168)1, 2, 9 Klose A....Nuernberg P. (Hum. Mol. Genet. 1998)
    14. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. (PubMed id 2121371)1, 2, 9 Ballester R.... Collins F.S. (Cell 1990)
    15. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. (PubMed id 22108604)1, 2 Thomas L.... Upadhyaya M. (Eur. J. Hum. Genet. 2012)
    16. Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin. (PubMed id 21089070)1, 2 Welti S....Scheffzek K. (Hum. Mutat. 2011)
    17. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    18. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. (PubMed id 20543202)1, 4 Mautner V.F....Kehrer-Sawatzki H. (J. Med. Genet. 2010)
    19. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. (PubMed id 20513137)1, 4 Pasmant E....Vidaud D. (Hum. Mutat. 2010)
    20. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    21. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. (PubMed id 19142971)1, 4 Bottillo I....Dallapiccola B. (J. Pathol. 2009)
    22. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. (PubMed id 19845691)1, 2 Nystrom A.M.... Anneren G. (Clin. Genet. 2009)
    23. Neurofibromatosis type 1 and infantile spasms. (PubMed id 18802710)1, 4 Ruggieri M....Pavone L. (Childs Nerv Syst 2009)
    24. RNF135 mutations are not present in patients with Sotos syndrome-like features. (PubMed id 19291764)1, 4 Visser R.... Losekoot M. (Am. J. Med. Genet. A 2009)
    25. Genetic mutations associated with cigarette smoking in pancreatic cancer. (PubMed id 19351817)1, 4 Blackford A....Hruban R.H. (Cancer Res. 2009)
    26. Frequent genomic abnormalities in acute myeloid leukemia/myelodysplastic syndrome with normal karyotype. (PubMed id 19144660)1, 4 Akagi T....Koeffler H.P. (Haematologica 2009)
    27. The sec14 homology module of neurofibromin binds cellular glycerophospholipids: mass spectrometry and structure of a lipid complex. (PubMed id 17187824)1, 2 Welti S.... Scheffzek K. (J. Mol. Biol. 2007)
    28. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). (PubMed id 15520408)1, 2 Ferner R.E.... Johnson M.R. (J. Med. Genet. 2004)
    29. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. (PubMed id 15523642)1, 2 Zatkova A.... Wimmer K. (Hum. Mutat. 2004)
    30. Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene. (PubMed id 15523626)1, 4 Horan M.P....Upadhyaya M. (Am. J. Med. Genet. A 2004)
    31. Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. (PubMed id 15389774)1, 4 Marui T....Sasaki T. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    32. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. (PubMed id 14722914)1, 4 Kluwe L....Mautner V.F. (Hum. Mutat. 2004)
    33. Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (PubMed id 12707950)1, 2 Baralle D.... ffrench-Constant C. (Am. J. Med. Genet. A 2003)
    34. Status of the NF1 tumor suppressor locus in uveal melanoma. (PubMed id 12963615)1, 4 Foster W.J....Harbour J.W. (Arch. Ophthalmol. 2003)
    35. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. (PubMed id 12522551)1, 2 Wang Q.... Puisieux A. (Hum. Genet. 2003)
    36. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. (PubMed id 11857752)1, 2 Kluwe L.... Mautner V.-F. (Hum. Mutat. 2002)
    37. C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme. (PubMed id 11727199)1, 2 Mukhopadhyay D....Davidson N.O. (Am. J. Hum. Genet. 2002)
    38. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. (PubMed id 11704931)1, 2 Kaufmann D.... Assum G. (Am. J. Hum. Genet. 2001)
    39. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. (PubMed id 11735023)1, 2 Han S.S.... Upadhyaya M.N. (Hum. Genet. 2001)
    40. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. (PubMed id 10607834)1, 2 Ars E....Estivill X. (Hum. Mol. Genet. 2000)
    41. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. (PubMed id 10712197)1, 2 Fahsold R.... Nuernberg P. (Am. J. Hum. Genet. 2000)
    42. A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). (PubMed id 10220149)1, 2 Peters H.... Schuelke M. (Hum. Mutat. 1999)
    43. Analysis of CpG C-to-T mutations in neurofibromatosis type 1. (PubMed id 10336779)1, 2 Krkljus S.... Wallace M.R. (Hum. Mutat. 1998)
    44. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. (PubMed id 9003501)1, 2 Upadhyaya M....Cooper D.N. (Hum. Genet. 1997)
    45. Six novel mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 9298829)1, 2 Upadhyaya M.... Harper P.S. (Hum. Mutat. 1997)
    46. Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 9101300)1, 2 Hudson J.... Thakker N. (Hum. Mutat. 1997)
    47. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. (PubMed id 9002664)1, 2 Regnier V.... Danglot G. (Hum. Mol. Genet. 1997)
    48. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. (PubMed id 9150739)1, 2 Maynard J.... Upadhyaya M. (Hum. Genet. 1997)
    49. Molecular genetics of neurofibromatosis type 1 (NF1). (PubMed id 8825042)1, 2 Shen M.H.... Upadhyaya M. (J. Med. Genet. 1996)
    50. The neurofibromatosis type I messenger RNA undergoes base- modification RNA editing. (PubMed id 8602361)1, 2 Skuse G.R.... Smith H.C. (Nucleic Acids Res. 1996)
    51. Scanning the first part of the neurofibromatosis type 1 gene by RNA- SSCP: identification of three novel mutations and of two new polymorphisms. (PubMed id 8834249)1, 2 Gasparini P.... Zelante L. (Hum. Genet. 1996)
    52. Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (PubMed id 8807336)1, 2 Wu R....Fryns J.-P. (Hum. Mutat. 1996)
    53. Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 8544190)1, 2 Upadhyaya M.... Harper P.S. (J. Med. Genet. 1995)
    54. Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. (PubMed id 7981679)1, 2 Purandare S.M.... Connor J.M. (Hum. Mol. Genet. 1994)
    55. Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene. (PubMed id 7981724)1, 2 Upadhyaya M.... Harper P.S. (Hum. Mutat. 1994)
    56. Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. (PubMed id 8081387)1, 2 Abernathy C.R.... Wallace M.R. (Hum. Mutat. 1994)
    57. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (PubMed id 8317503)1, 2 Tassabehji M.... Thakker N. (Am. J. Hum. Genet. 1993)
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    108. Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRD-dependent manner. (PubMed id 20442305)1, 9 Turbyville T.J....Reilly K.M. (Mol. Cancer Ther. 2010)
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    149. Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS. (PubMed id 23437333)1 Reuss D.E....von Deimling A. (PLoS ONE 2013)
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    153. Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. (PubMed id 23047742)1 Ben-Shachar S....Huson S.M. (Eur. J. Hum. Genet. 2013)
    154. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. (PubMed id 23947441)1 Hamby S.E....Chuzhanova N. (Hum. Genomics 2013)
    155. Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. (PubMed id 23460398)1 Boudry-Labis E....Preudhomme C. (Am. J. Hematol. 2013)
    156. NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. (PubMed id 23292448)1 Park H.J....Jeong S.Y. (Int. J. Oncol. 2013)
    157. Modeling cognitive dysfunction in neurofibromatosis-1. (PubMed id 23312374)1 Diggs-Andrews K.A. and Gutmann D.H. (Trends Neurosci. 2013)
    158. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. (PubMed id 23010473)1 Welander J....Gimm O. (Hum. Mol. Genet. 2012)
    159. A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. (PubMed id 22965773)1 YimenicioA9lu S....Carman K.B. (Childs Nerv Syst 2012)
    160. Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions. (PubMed id 22294457)1 Kluwe L....Mautner V.F. (amp 2012)
    161. Neoplasms associated with germline and somatic NF1 gene mutations. (PubMed id 22240541)1 Patil S. and Chamberlain R.S. (Oncologist 2012)
    162. Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis. (PubMed id 22945628)1 Dai C....Lindquist S. (J. Clin. Invest. 2012)
    163. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. (PubMed id 22837079)1 Vogt J....Kehrer-Sawatzki H. (Hum. Mutat. 2012)
    164. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. (PubMed id 22190464)1 Roehl A.C....Kehrer-Sawatzki H. (Hum. Mutat. 2012)
    165. Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1? (PubMed id 22488919)1 Lee S.M....Cho T.J. (J. Orthop. Res. 2012)
    166. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions. (PubMed id 22581253)1 Kehrer-Sawatzki H....Mautner V.F. (Neurogenetics 2012)
    167. A fraction of neurofibromin interacts with PML bodies in the nucleus of the CCF astrocytoma cell line. (PubMed id 22293200)1 Godin F....BAcnAcdetti H. (Biochem. Biophys. Res. Commun. 2012)
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    169. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    170. The neurofibromin 1 type I isoform predominance characterises female population affected by sporadic breast cancer: preliminary data. (PubMed id 22412049)1 Marrero D....Salcedo M. (J. Clin. Pathol. 2012)
    171. Screening for mutation site on the type I neurofibromatosis gene in a family. (PubMed id 22207399)1 Lv M....Li S. (Childs Nerv Syst 2012)
    172. Integration of SNP and mRNA arrays with microRNA profiling reveals that MiR-370 is upregulated and targets NF1 in acute myeloid leukemia. (PubMed id 23077663)1 GarcA-a-OrtA- L....Odero M.D. (PLoS ONE 2012)
    173. Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (PubMed id 22585738)1 Beert E....Debiec-Rychter M. (amp 2012)
    174. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. (PubMed id 21728811)1 Zobor D....Kohl S. (Ophthalmic Genet. 2012)
    175. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    176. Loss of NF1 expression in human endothelial cells promotes autonomous proliferation and altered vascular morphogenesis. (PubMed id 23145129)1 Bajaj A....Pumiglia K. (PLoS ONE 2012)
    177. NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. (PubMed id 22241097)1 Moles K.J....Shaffer L.G. (Genet. Med. 2012)
    178. Breast cancer and other neoplasms in women with neurofibromatosis type 1: a retrospective review of cases in the Detroit metropolitan area. (PubMed id 22965642)1 Wang X....Tainsky M.A. (Am. J. Med. Genet. A 2012)
    179. Neurofibromin modulates adult hippocampal neurogenesis and behavioral effects of antidepressants. (PubMed id 22399775)1 Li Y....Parada L.F. (J. Neurosci. 2012)
    180. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. (PubMed id 22807134)1 Thomas L....Upadhyaya M. (Hum. Mutat. 2012)
    181. Sensitivity of glioblastomas to clinically available MEK inhibitors is defined by neurofibromin 1 deficiency. (PubMed id 22573716)1 See W.L....Pieper R.O. (Cancer Res. 2012)
    182. A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1. (PubMed id 22751498)1 Stowe I.B....McCormick F. (amp 2012)
    183. Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors. (PubMed id 22250039)1 Stewart D.R....Legius E. (amp 2012)
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    185. Increased risk of breast cancer in women with NF1. (PubMed id 23165953)1 Madanikia S.A....Blakeley J.O. (Am. J. Med. Genet. A 2012)
    186. PTEN and NF1 inactivation in Schwann cells produces a severe phenotype in the peripheral nervous system that promotes the development and malignant progression of peripheral nerve sheath tumors. (PubMed id 22700876)1 Keng V.W....Largaespada D.A. (Cancer Res. 2012)
    187. Deletion of the tumor-suppressor gene NF1 occurs in 5% of myeloid malignancies and is accompanied by a mutation in the remaining allele in half of the cases. (PubMed id 22015770)1 Haferlach C....Haferlach T. (Leukemia 2012)
    188. Nf1 RasGAP inhibition of LIMK2 mediates a new cross-talk between Ras and Rho pathways. (PubMed id 23082153)1 VallAce B....BAcnAcdetti H. (PLoS ONE 2012)
    189. The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently accompanied by alterations of the RUNX1, KRAS and NRAS and NF1 genes and mediates adverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML. (PubMed id 21283084)1 Haferlach C....Schnittger S. (Leukemia 2011)
    190. Neurofibromin (Nf1) is required for skeletal muscle development. (PubMed id 21478499)1 Kossler N....Kolanczyk M. (Hum. Mol. Genet. 2011)
    191. S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. (PubMed id 21674567)1 Tucker T....Friedman J.M. (J. Neurosci. Res. 2011)
    192. Immune response and mitochondrial metabolism are commonly deregulated in DMD and aging skeletal muscle. (PubMed id 22096509)1 Baron D....Pereon Y. (PLoS ONE 2011)
    193. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. (PubMed id 21278392)1 Sharif S....Evans D.G. (J. Med. Genet. 2011)
    194. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    195. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    196. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    197. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). (PubMed id 21280148)1 Messiaen L....Kehrer-Sawatzki H. (Hum. Mutat. 2011)
    198. Perinatal or adult Nf1 inactivation using tamoxifen-inducible PlpCre each cause neurofibroma formation. (PubMed id 21551249)1 Mayes D.A....Ratner N. (Cancer Res. 2011)
    199. The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. (PubMed id 22125493)1 Wimmer K....Messiaen L. (PLoS Genet. 2011)
    200. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (Haematologica 2011)
    201. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    202. The probable cell of origin of NF1- and PDGF-driven glioblastomas. (PubMed id 21931722)1 Hambardzumyan D....Michor F. (PLoS ONE 2011)
    203. Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. (PubMed id 22105171)1 Wang H.F....Hsueh Y.P. (J. Clin. Invest. 2011)
    204. Neurofibromatosis-1 heterozygosity increases microglia in a spatially and temporally restricted pattern relevant to mouse optic glioma formation and growth. (PubMed id 21157378)1 Simmons G.W....Gutmann D.H. (J. Neuropathol. Exp. Neurol. 2011)
    205. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    206. Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. (PubMed id 21732117)1 Terzi Y.K....Ayter S. (Childs Nerv Syst 2011)
    207. Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. (PubMed id 21365283)1 Pizzuti A....Dallapiccola B. (Neurogenetics 2011)
    208. TGF-I^ signals the formation of a unique NF1/Smad4-dependent transcription repressor-complex in human diploid fibroblasts. (PubMed id 21782795)1 Luciakova K....Nelson B.D. (Biochem. Biophys. Res. Commun. 2011)
    209. Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. (PubMed id 21838856)2 Ponti G.... Seidenari S. (Hered. Cancer Clin. Pract. 2011)
    210. A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. (PubMed id 21236316)1 VAcdrine S.M....Andres C.R. (Neurosci. Lett. 2011)
    211. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S.... Dorf M.E. (Immunity 2011)
    212. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. (PubMed id 20927530)1 Gabriele A.L....Quattrone A. (Childs Nerv Syst 2011)
    213. Variable expression of neurofibromatosis 1 in monozygotic twins. (PubMed id 21337692)1 Rieley M.B....Schorry E.K. (Am. J. Med. Genet. A 2011)
    214. The role of motor proficiency in bone health in genetic syndromes. (PubMed id 21244408)1 Stevenson D.A. (Dev Med Child Neurol 2011)
    215. Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1. (PubMed id 21199919)1 Kiyomitsu T....Yanagida M. (Mol. Cell. Biol. 2011)
    216. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. (PubMed id 20503322)1 Bottillo I....Dallapiccola B. (Am. J. Med. Genet. A 2010)
    217. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. (PubMed id 20725927)1 Roehl A.C....Kehrer-Sawatzki H. (Hum. Mutat. 2010)
    218. The role of neurofibromin in N-Ras mediated AP-1 regulation in malignant peripheral nerve sheath tumors. (PubMed id 20680410)1 Kraniak J.M....Tainsky M.A. (Mol. Cell. Biochem. 2010)
    219. AML with CBFB-MYH11 rearrangement demonstrate RAS pathway alterations in 92% of all cases including a high frequency of NF1 deletions. (PubMed id 20164853)1 Haferlach C....Haferlach T. (Leukemia 2010)
    220. Neurofibromin regulates corticostriatal inhibitory networks during working memory performance. (PubMed id 20624961)1 Shilyansky C....Silva A.J. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    221. Pediatric early T-cell precursor leukemia with NF1 deletion and high-sensitivity in vitro to tipifarnib. (PubMed id 20428205)1 Biagi C....Pession A. (Leukemia 2010)
    222. NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. (PubMed id 20655465)1 HAPlzel M....Bernards R. (Cell 2010)
    223. NF1 inactivation in adult acute myelogenous leukemia. (PubMed id 20505189)1 Parkin B....Malek S.N. (Clin. Cancer Res. 2010)
    224. Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (PubMed id 20002172)1 Arima Y....Saya H. (Exp. Dermatol. 2010)
    225. Genomic profiling of adult acute lymphoblastic leukemia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia. (PubMed id 20435627)1 Okamoto R....Koeffler H.P. (Haematologica 2010)
    226. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? (PubMed id 20052761)1 Roehl A.C....Kehrer-Sawatzki H. (Hum. Mutat. 2010)
    227. Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. (PubMed id 21142935)1 Harder A....Peters H. (Twin Res Hum Genet 2010)
    228. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. (PubMed id 20602485)1 Muram-Zborovski T.M....Stevenson D.A. (Am. J. Med. Genet. A 2010)
    229. NF1 inactivation revs up Ras in adult acute myelogenous leukemia. (PubMed id 20587590)1 Mullally A. and Ebert B.L. (Clin. Cancer Res. 2010)
    230. [Developmental manifestation in children with neurofibromatosis type 1]. (PubMed id 20422842)1 Cohen R. and Shuper A. (Harefuah 2010)
    231. Nuclear factor 1 synergizes with progesterone receptor on the mouse mammary tumor virus promoter wrapped around a histone H3/H4 tetramer by facilitating access to the central hormone-responsive elements. (PubMed id 19940123)1 Vicent G.P....Beato M. (J. Biol. Chem. 2010)
    232. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    233. Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells. (PubMed id 20571392)1 Staser K....Clapp D.W. (Curr. Opin. Hematol. 2010)
    234. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. (PubMed id 20358387)1 Thomas L....Upadhyaya M. (Neurogenetics 2010)
    235. Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis. (PubMed id 20687928)1 Melean G....HernA!ndez-Chico C. (BMC Cancer 2010)
    236. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    237. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. (PubMed id 19417008)1 Sabbagh A....Wolkenstein P. (Hum. Mol. Genet. 2009)
    238. Neurofibromatosis type 1 with undescribed osseous abnormalities: new features? (PubMed id 19238080)1 Leruste A....Lacombe D. (Clin. Dysmorphol. 2009)
    239. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)
    240. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (PubMed id 19449407)1 Thiel C....Rauch A. (Am. J. Med. Genet. A 2009)
    241. Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. (PubMed id 19061981)1 LeskelAo H.V....Peltonen J. (Bone 2009)
    242. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. (PubMed id 19221814)1 Upadhyaya M....Mautner V. (Neurogenetics 2009)
    243. Low U1 snRNP dependence at the NF1 exon 29 donor splice site. (PubMed id 19292874)1 Raponi M....Baralle D. (FEBS J. 2009)
    244. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    245. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    246. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. (PubMed id 19650418)1 Terzi Y.K....Ayter S. (Genet. Couns. 2009)
    247. Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA. (PubMed id 18086893)1 Zhu H....Lou H. (Mol. Cell. Biol. 2008)
    248. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (J. Proteome Res. 2008)
    249. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). (PubMed id 17960768)1 Upadhyaya M....Mautner V. (Hum. Mutat. 2008)
    250. Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis. (PubMed id 18172006)1 Balgobind B.V....Meijerink J.P. (Blood 2008)
    251. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. (PubMed id 18546366)1 Pros E....LA!zaro C. (Hum. Mutat. 2008)
    252. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (Mol. Cell 2008)
    253. Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? (PubMed id 18511569)1 Kehrer-Sawatzki H. and Cooper D.N. (J. Med. Genet. 2008)
    254. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    255. Germline and somatic NF1 gene mutations in plexiform neurofibromas. (PubMed id 18484666)1 Upadhyaya M....Mautner V. (Hum. Mutat. 2008)
    256. The pathological splicing mutation c.6792C&gt;G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. (PubMed id 18503770)1 Skoko N....Baralle F.E. (FEBS Lett. 2008)
    257. Neurofibromatosis type I: genetics and clinical manifestations. (PubMed id 18214791)1 Savar A. and Cestari D.M. (Semin Ophthalmol 2008)
    258. Alphavirus production is inhibited in neurofibromin 1-deficient cells through activated RAS signalling. (PubMed id 18485440)1 Kolokoltsova O.A....Watowich S.J. (Virology 2008)
    259. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. (PubMed id 18212816)1 Steinmann K....Kehrer-Sawatzki H. (Eur. J. Hum. Genet. 2008)
    260. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. (PubMed id 17426081)1 Bausch B....Neumann H.P. (J. Clin. Endocrinol. Metab. 2007)
    261. T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. (PubMed id 17299016)1 Hyman S.L....North K.N. (J. Neurol. Neurosurg. Psychiatr. 2007)
    262. An orthotopic xenograft model of intraneural NF1 MPNST suggests a potential association between steroid hormones and tumor cell proliferation. (PubMed id 17876295)1 Perrin G.Q....Muir D. ( a journal of technical methods and pathology 2007)
    263. Neurofibromatosis: novel and recurrent mutations in Turkish patients. (PubMed id 18021924)1 Terzi Y.K....Ayter S. (Pediatr. Neurol. 2007)
    264. Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. (PubMed id 17581973)1 Ho I.S....Zhong Y. (J. Neurosci. 2007)
    265. Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. (PubMed id 16944271)1 Stewart W....Tobias E.S. (Fam. Cancer 2007)
    266. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. (PubMed id 18055911)1 De Luca A....Dallapiccola B. (J. Med. Genet. 2007)
    267. Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. (PubMed id 17216419)1 Hawes J.J....Reilly K.M. (Neurogenetics 2007)
    268. Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. (PubMed id 17726231)1 Bendova S....Marikova T. (J. Mol. Neurosci. 2007)
    269. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. (PubMed id 17999360)1 Steinmann K....Kehrer-Sawatzki H. (Am. J. Hum. Genet. 2007)
    270. Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients. (PubMed id 17563086)1 Serra E....LA!zaro C. (amp 2007)
    271. Molecular diagnosis of neurofibromatosis type 1: 2 years experience. (PubMed id 16944272)1 Griffiths S....Upadhyaya M. (Fam. Cancer 2007)
    272. Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor. (PubMed id 16741618)1 Nemoto H....Sanada Y. (J. Gastroenterol. 2006)
    273. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    274. Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signaling. (PubMed id 16835260)1 Yang F.C....Clapp D.W. (Hum. Mol. Genet. 2006)
    275. Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. (PubMed id 16467218)1 Mensink K.A....Babovic-Vuksanovic D. (J. Med. Genet. 2006)
    276. Hyperactivation of p21ras and PI3K cooperate to alter murine and human neurofibromatosis type 1-haploinsufficient osteoclast functions. (PubMed id 17053831)1 Yang F.C....Clapp D.W. (J. Clin. Invest. 2006)
    277. An extended consensus motif enhances the specificity of substrate modification by SUMO. (PubMed id 17036045)1 Yang S.H....Sharrocks A.D. (EMBO J. 2006)
    278. Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization. (PubMed id 16470740)1 Raponi M....Baralle D. (Hum. Mutat. 2006)
    279. Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. (PubMed id 16374483)1 De Schepper S....Lambert J.L. (J. Invest. Dermatol. 2006)
    280. Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. (PubMed id 16830335)1 De Raedt T....Legius E. (amp 2006)
    281. Double inactivation of NF1 in tibial pseudarthrosis. (PubMed id 16773574)1 Stevenson D.A....Viskochil D.H. (Am. J. Hum. Genet. 2006)
    282. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    283. A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein. (PubMed id 16397625)2 D'Angelo I....Scheffzek K. (EMBO Rep. 2006)
    284. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    285. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. (PubMed id 15944227)1 Mantripragada K.K....Dumanski J.P. (J. Med. Genet. 2006)
    286. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. (PubMed id 16479075)1 Jeong S.Y....Kim H.J. (J. Korean Med. Sci. 2006)
    287. Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)1 Nousiainen M....KAPrner R. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    288. Neurofibromin: a general outlook. (PubMed id 16813595)1 TrovA^-Marqui A.B. and Tajara E.H. (Clin. Genet. 2006)
    289. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (PubMed id 15948193)2 Bertola D.R.... Krieger J.E. (Am. J. Med. Genet. A 2005)
    290. BAF complex is closely related to and interacts with NF1/CTF and RNA polymerase II in gene transcriptional activation. (PubMed id 15999204)1 Zhao L.H....Zeng X.L. (Acta Biochim. Biophys. Sin. (Shanghai) 2005)
    291. TATA-binding protein (TBP)-like factor (TLF) is a functional regulator of transcription: reciprocal regulation of the neurofibromatosis type 1 and c-fos genes by TLF/TRF2 and TBP. (PubMed id 15767669)1 Chong J.A....Clapham D.E. (Mol. Cell. Biol. 2005)
    292. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. (PubMed id 16138909)1 Venturin M....Riva P. (Ann. Hum. Genet. 2005)
    293. Global phosphoproteome of HT-29 human colon adenocarcinoma cells. (PubMed id 16083285)1 Kim J.E....White F.M. (J. Proteome Res. 2005)
    294. An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function. (PubMed id 16081245)1 Schmegner C....Assum G. (Genomics 2005)
    295. The effect of extracellular calcium concentration on calcium-mediated cell signaling in NF1 tumor suppressor-deficient keratinocytes. (PubMed id 15735964)1 KorkiamAoki T....Peltonen J. (Arch. Dermatol. Res. 2005)
    296. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. (PubMed id 16116616)1 Inagaki H.... Kurahashi H. (Hum. Mutat. 2005)
    297. Splicing in action: assessing disease causing sequence changes. (PubMed id 16199547)1 Baralle D. and Baralle M. (J. Med. Genet. 2005)
    298. Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis. (PubMed id 16005615)1 Cai Y....Wang S. (J. Dermatol. Sci. 2005)
    299. Genomic organization and evolution of the NF1 microdeletion region. (PubMed id 15233998)1 De Raedt T....Legius E. (Genomics 2004)
    300. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)1 Beausoleil S.A.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    301. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    302. Expression, purification and preliminary crystallographic characterization of a novel segment from the neurofibromatosis type 1 protein. (PubMed id 15583390)1 Bonneau F....Scheffzek K. (Acta Crystallogr. D Biol. Crystallogr. 2004)
    303. Neurofibromin is actively transported to the nucleus. (PubMed id 14988005)1 Vandenbroucke I....Messiaen L. (FEBS Lett. 2004)
    304. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. (PubMed id 14729829)4 Venturin M....Riva P. (J. Med. Genet. 2004)
    305. Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. (PubMed id 15060124)2 Mattocks C....Whittaker J. (J. Med. Genet. 2004)
    306. Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region. (PubMed id 14647436)1 Zou M.X....Rodenhiser D.I. (Oncogene 2004)
    307. Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. (PubMed id 15627836)1 TrovA^-Marqui A.B....Tajara E.H. (Ophthalmic Res. 2004)
    308. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    309. A new insight into our understanding of neurofibromatosis type 1? (PubMed id 15096131)1 Chimenti S. (J Eur Acad Dermatol Venereol 2004)
    310. The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1. (PubMed id 15371411)1 Zhu C....Eklund E.A. (J. Biol. Chem. 2004)
    311. Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase-activating protein function toward Ras. (PubMed id 12730209)1 Yunoue S....Araki N. (J. Biol. Chem. 2003)
    312. Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. (PubMed id 14565158)4 Tada K....Ushio Y. (Neuro-oncology 2003)
    313. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. (PubMed id 13680360)1 Colapietro P....Larizza L. (Hum. Genet. 2003)
    314. Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. (PubMed id 12872266)1 Origone P....Bonioli E. (Hum. Mutat. 2003)
    315. Elevated risk for MPNST in NF1 microdeletion patients. (PubMed id 12660952)1 De Raedt T....Legius E. (Am. J. Hum. Genet. 2003)
    316. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. (PubMed id 12483293)1 Upadhyaya M....Cooper D.N. (Hum. Genet. 2003)
    317. RT-PCR splicing analysis of the NF1 open reading frame. (PubMed id 12073021)1 Thomson S.A. and Wallace M.R. (Hum. Genet. 2002)
    318. Constitutive expression of the Id-1 promoter in human metastatic breast cancer cells is linked with the loss of NF-1/Rb/HDAC-1 transcription repressor complex. (PubMed id 11896613)1 Singh J....Desprez P.Y. (Oncogene 2002)
    319. Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population. (PubMed id 11934389)1 Fang L.J....Thirion J.P. (Ann. Genet. 2002)
    320. Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. (PubMed id 12077339)1 Bajenaru M.L....Gutmann D.H. (Mol. Cell. Biol. 2002)
    321. Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro. (PubMed id 12368469)1 Kemkemer R....Kaufmann D. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    322. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    323. Quantification of NF1 transcripts reveals novel highly expressed splice variants. (PubMed id 12095621)1 Vandenbroucke I....Messiaen L. (FEBS Lett. 2002)
    324. Mutational and expression analysis of the NF1 gene argues against a role as tumor suppressor in sporadic pilocytic astrocytomas. (PubMed id 12387455)1 Wimmer K....Pietsch T. (J. Neuropathol. Exp. Neurol. 2002)
    325. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. (PubMed id 12438263)1 Maris J.M....Shusterman S. (Cancer Res. 2002)
    326. Identification and characterization of four novel large deletions in the human neurofibromatosis type 1 (NF1) gene. (PubMed id 11748857)1 Fang L.J....Thirion J.P. (Hum. Mutat. 2001)
    327. Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes. (PubMed id 11751683)1 Gutmann D.H....Parada L.F. (Hum. Mol. Genet. 2001)
    328. Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. (PubMed id 11356864)1 Hsueh Y.P....Roberts R.G. (J. Neurosci. 2001)
    329. Genotype analysis of the NF1 gene in the French Canadians from the QuAcbec population. (PubMed id 11754043)1 Fang L....Thirion J.P. (Am. J. Med. Genet. 2001)
    330. Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism. (PubMed id 11449390)4 Plank S.M....Michaelis R.C. (Am. J. Med. Genet. 2001)
    331. Loss of NF1 alleles distinguish sporadic from NF1-associated pilocytic astrocytomas. (PubMed id 11556548)4 Kluwe L....Mautner V.F. (J. Neuropathol. Exp. Neurol. 2001)
    332. Proteomic analysis of NMDA receptor-adhesion protein signaling complexes. (PubMed id 10862698)1 Husi H....Grant S.G. (Nat. Neurosci. 2000)
    333. NF1 gene and neurofibromatosis 1. (PubMed id 10625171)1 Rasmussen S.A. and Friedman J.M. (Am. J. Epidemiol. 2000)
    334. Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. (PubMed id 10459349)4 Kluwe L....Mautner V.F. (Cancer Genet. Cytogenet. 1999)
    335. Association study of the NF1 gene and autistic disorder. (PubMed id 10581497)4 Mbarek O....Andres C. (Am. J. Med. Genet. 1999)
    336. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. (PubMed id 9529361)1 Ars E....Estivill X. (Am. J. Hum. Genet. 1998)
    337. RNA processing and clinical variability in neurofibromatosis type I (NF1). (PubMed id 9300663)1 Skuse G.R. and Cappione A.J. (Hum. Mol. Genet. 1997)
    338. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (Genome Res. 1997)
    339. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)
    340. Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome. (PubMed id 8931693)1 Riva P....Larizza L. (Hum. Genet. 1996)
    341. Identification and characterization of two novel tetratricopeptide repeat-containing genes. (PubMed id 8836031)1 Murthy A.E.... Gusella J.F. (DNA Cell Biol. 1996)
    342. Identification of neurofibromatosis 1 (NF1) homologous loci by direct sequencing, fluorescence in situ hybridization, and PCR amplification of somatic cell hybrids. (PubMed id 8825634)1 Purandare S.M....Viskochil D. (Genomics 1995)
    343. Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene. (PubMed id 7633452)1 Danglot G....Bernheim A. (Hum. Mol. Genet. 1995)
    344. Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation. (PubMed id 7649559)1 LA!zaro C....Estivill X. (Hum. Genet. 1995)
    345. Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene. (PubMed id 7633431)1 Purandare S.M....Connor J.M. (Hum. Mol. Genet. 1995)
    346. Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). (PubMed id 8069310)1 Valero M.C....HernA!ndez-Chico C. (Hum. Mol. Genet. 1994)
    347. Screening for truncated NF1 proteins. (PubMed id 7874161)1 Heim R.A....Luce M.C. (Nat. Genet. 1994)
    348. Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. (PubMed id 7903661)1 Horiuchi T....Fujita S. (Hum. Genet. 1994)
    349. DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse. (PubMed id 7959746)1 Hajra A.... Collins F.S. (Genomics 1994)
    350. Neurofibromatosis 1 (PubMed id 20301288)1 Pagon R.A....Stephens K. (1993)
    351. An exon-trapping system with a newly constructed trapping vector pEXT2; its application to the proximal region of the human chromosome 21 long arm. (PubMed id 7686513)1 Ozawa N.... Suzuki H. (FEBS Lett. 1993)
    352. Cyclic amplification and selection of targets for multicomponent complexes: myogenin interacts with factors recognizing binding sites for basic helix-loop-helix, nuclear factor 1, myocyte-specific enhancer-binding factor 2, and COMP1 factor. (PubMed id 1329097)1 Funk W.D. and Wright W.E. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    353. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. (PubMed id 1757093)1 Estivill X....Ravella A. (Hum. Genet. 1991)
    354. A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene. (PubMed id 1937470)1 Stark M....Krone W. (Hum. Genet. 1991)
    355. A de novo Alu insertion results in neurofibromatosis type 1. (PubMed id 1719426)1 Wallace M.R....Collins F.S. (Nature 1991)
    356. Precise localization of NF1 to 17q11.2 by balanced translocation. (PubMed id 2491776)1 Ledbetter D.H....Carey J.C. (Am. J. Hum. Genet. 1989)
    357. Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells. (PubMed id 8847098)9 Wrabetz L....Ratner N. (Glia 1995)
    358. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer. (PubMed id 15840687)9 Cacev T....KapitanoviA8 S. (Gut 2005)
    359. Differential localization of the neurofibromatosis 1 (NF1) gene product, neurofibromin, with the F-actin or microtubule cytoskeleton during differentiation of telencephalic neurons. (PubMed id 11675125)9 Li C....Mangoura D. (Brain Res. Dev. Brain Res. 2001)
    360. Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types. (PubMed id 17551851)9 Spurlock G....Upadhyaya M. (Fam. Cancer 2007)
    361. Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient. (PubMed id 16861979)9 Perren A....Komminoth P. (Am. J. Surg. Pathol. 2006)
    362. Biallelic somatic inactivation of the NF1 gene through chromosomal translocations in a sporadic neurofibroma. (PubMed id 15986446)9 Storlazzi C.T....Mertens F. (Int. J. Cancer 2005)
    363. Germline mutations in NF1 patients with malignancies. (PubMed id 10534774)9 Wu R....Legius E. (amp 1999)
    364. The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase-activating polypeptide-mediated signaling in astrocytes. (PubMed id 14523097)9 Dasgupta B....Gutmann D.H. (J. Neurosci. 2003)
    365. Urinary bladder transitional cell carcinogenesis is associated with down-regulation of NF1 tumor suppressor gene in vivo and in vitro. (PubMed id 10079253)9 Aaltonen V....Peltonen J. (Am. J. Pathol. 1999)
    366. Developmental regulation of NF1 tumor suppressor gene in human peripheral nerve. (PubMed id 10659684)9 Hirvonen O....Peltonen J. (J. Neurocytol. 1998)
    367. Neurofibromin: expression by normal human keratinocytes in vivo and in vitro and in epidermal malignancies. (PubMed id 7637322)9 Hermonen J....Peltonen J. ( a journal of technical methods and pathology 1995)
    368. Retroviral integration at the Evi-2 locus in BXH-2 myeloid leukemia cell lines disrupts Nf1 expression without changes in steady-state Ras-GTP levels. (PubMed id 7609078)9 Largaespada D.A....Copeland N.G. (J. Virol. 1995)
    369. Monosomy 7 myeloproliferative disease in children with neurofibromatosis, type 1: epidemiology and molecular analysis. (PubMed id 1536955)9 Shannon K.M....Priest J.R. (Blood 1992)
    370. Nf1 haploinsufficiency and Icsbp deficiency synergize in the development of leukemias. (PubMed id 19228926)9 Koenigsmann J....Carstanjen D. (Blood 2009)
    371. Inhibition of neurofibromin and p120 GTPase activating protein (GAP) by dietary fatty acids. (PubMed id 10667358)9 Lee J.H....Golubic M. (Adv. Exp. Med. Biol. 1999)
    372. Glial and muscle embryonal carcinoma cell-specific independent regulation of expression of human JC virus early promoter by cyclic AMP response elements and adjacent nuclear factor 1 binding sites. (PubMed id 8818965)9 Kumar K.U....Pater A. (J. Med. Virol. 1996)
    373. Lesional psoriatic epidermis displays reduced neurofibromin immunoreactivity. (PubMed id 7594640)9 Peltonen J....Karvonen J. (J. Invest. Dermatol. 1995)
    374. Regulated expression of neurofibromin in migrating neural crest cells of avian embryos. (PubMed id 7561832)9 Stocker K.M....Ciment G. (J. Neurobiol. 1995)
    375. Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. (PubMed id 8302341)9 Shannon K.M....McCormick F. (N. Engl. J. Med. 1994)
    376. Crosslinking of the surface immunoglobulin receptor in B lymphocytes induces a redistribution of neurofibromin but not p120-GAP. (PubMed id 8290249)9 Boyer M.J....Bar-Sagi D. (Oncogene 1994)
    377. Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis. (PubMed id 18614544)9 Hegedus B....Gutmann D.H. (Hum. Mol. Genet. 2008)
    378. Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. (PubMed id 18063929)9 Petrak B....Marikova T. (Neuro Endocrinol. Lett. 2007)
    379. Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. (PubMed id 18041031)9 Brinckmann A....NA1rnberg P. (Electrophoresis 2007)
    380. Tie2-Cre-induced inactivation of a conditional mutant Nf1 allele in mouse results in a myeloproliferative disorder that models juvenile myelomonocytic leukemia. (PubMed id 14739366)9 Gitler A.D....Epstein J.A. (Pediatr. Res. 2004)
    381. Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication. (PubMed id 12384794)9 Kehrer-Sawatzki H....Hameister H. (Hum. Genet. 2002)
    382. Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1. (PubMed id 11068991)9 Park K.C....Eun H.C. (J. Korean Med. Sci. 2000)
    383. Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. (PubMed id 10620616)9 Ingram D.A....Clapp D.W. (J. Exp. Med. 2000)
    384. On the lysosomal degradation of neurofibromin and its phosphorylation in cultured melanocytes. (PubMed id 10543444)9 Kaufmann D....MA1ller R. (Biol. Chem. 1999)
    385. Differential regulation of neurofibromin and p120 GTPase-activating protein by nutritionally relevant fatty acids. (PubMed id 9589427)9 GolubiA8 M....Lee J.H. (Nutr Cancer 1998)
    386. Loss of neurofibromin in the leptomeningeal astroglial heterotopia of NF-1. (PubMed id 9568919)9 Kato M....Takashima S. (Pediatr. Neurol. 1998)
    387. Post-transcriptional regulation of neurofibromin level in cultured human melanocytes in response to growth factors. (PubMed id 9036924)9 Griesser J....Krone W. (J. Invest. Dermatol. 1997)
    388. Reduced expression of neurofibromin in human meningiomas. (PubMed id 9310240)9 Sundaram V....Golubic M. (Br. J. Cancer 1997)
    389. Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function. (PubMed id 8264632)9 Johnson M.R....Lowy D.R. (Mol. Cell. Biol. 1994)
    390. Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras. (PubMed id 8516298)9 Johnson M.R....Lowy D.R. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    391. Differences in the interaction of p21c-Ha-ras-GMP-PNP with full-length neurofibromin and GTPase-activating protein. (PubMed id 8437847)9 DiBattiste D....Wolfman A. (Oncogene 1993)
    392. Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons. (PubMed id 8463837)9 Nordlund M....Ratner N. (J. Neurosci. 1993)
    393. Detection and characterization of NF1 microdeletions by custom high resolution array CGH. (PubMed id 19767589)9 Pasmant E....Vidaud D. (J Mol Diagn 2009)
    394. Transcriptional regulation of the 5'-flanking region of the human transcription factor Sp3 gene by NF-1, c-Myb, B-Myb, AP-1 and E2F. (PubMed id 18342022)9 Tapias A....NoAc V. (Biochim. Biophys. Acta 2008)
    395. Influence of hormones and hormone metabolites on the growth of Schwann cells derived from embryonic stem cells and on tumor cell lines expressing variable levels of neurofibromin. (PubMed id 18213578)9 Roth T.M....Barald K.F. (Dev. Dyn. 2008)
    396. Phosphorylation of neurofibromin by PKC is a possible molecular switch in EGF receptor signaling in neural cells. (PubMed id 16314845)9 Mangoura D....Vallianatos G. (Oncogene 2006)
    397. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. (PubMed id 15776250)9 Kehrer-Sawatzki H....Mautner V.F. (Hum. Genet. 2005)
    398. PKA phosphorylation and 14-3-3 interaction regulate the function of neurofibromatosis type I tumor suppressor, neurofibromin. (PubMed id 14741381)9 Feng L....Araki N. (FEBS Lett. 2004)
    399. Epidermal growth factor receptor signaling pathways are associated with tumorigenesis in the Nf1:p53 mouse tumor model. (PubMed id 12154062)9 Li H....DeClue J.E. (Cancer Res. 2002)
    400. The Nf1 tumor suppressor regulates mouse skin wound healing, fibroblast proliferation, and collagen deposited by fibroblasts. (PubMed id 10383727)9 Atit R.P....Ratner N. (J. Invest. Dermatol. 1999)
    401. Role of neurofibromin in modulation of expression of the tyrosinase-related protein 2 gene. (PubMed id 9792924)9 Suzuki H....Shibahara S. (J. Biochem. 1998)
    402. The OMgp gene, a second growth suppressor within the NF1 gene. (PubMed id 9569019)9 Habib A.A....StefA!nsson K. (Oncogene 1998)
    403. Do NF1 gene deletions result in a characteristic phenotype? (PubMed id 9375928)9 Tonsgard J.H....Lindgren V. (Am. J. Med. Genet. 1997)
    404. YY1 and NF1 both activate the human p53 promoter by alternatively binding to a composite element, and YY1 and E1A cooperate to amplify p53 promoter activity. (PubMed id 8816507)9 Furlong E.E....Martin F. (Mol. Cell. Biol. 1996)
    405. Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase. (PubMed id 8612763)9 Izawa I....Saya H. (FEBS Lett. 1996)
    406. Neurofibromatosis and associated tumour suppressor genes. (PubMed id 8880865)9 Zwarthoff E.C. (Pathol. Res. Pract. 1996)
    407. Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation. (PubMed id 7505343)9 Gutmann D.H....Rutkowski J.L. (J. Neurosci. Res. 1993)
    408. Progress toward the isolation and characterization of the genes causing neurofibromatosis. (PubMed id 1669691)9 Menon A.G....Seizinger B.R. (Brain Pathol. 1990)
    409. Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. (PubMed id 19573811)9 McGillicuddy L.T....Cichowski K. (Cancer Cell 2009)
    410. Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient. (PubMed id 18648396)9 Pasmant E....BiA"che I. (Eur. J. Hum. Genet. 2008)
    411. Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. (PubMed id 16513807)9 Hannan F....Zhong Y. (Hum. Mol. Genet. 2006)
    412. Gene expression profiling of cultured human NF1 heterozygous (NF1+/-) melanocytes reveals downregulation of a transcriptional cis-regulatory network mediating activation of the melanocyte-specific dopachrome tautomerase (DCT) gene. (PubMed id 16033338)9 Boucneau J....Lambert J. (Pigment Cell Res. 2005)
    413. Neurofibromin regulates neural stem cell proliferation, survival, and astroglial differentiation in vitro and in vivo. (PubMed id 15944386)9 Dasgupta B. and Gutmann D.H. (J. Neurosci. 2005)
    414. [Neurofibromatosis type 1 or Von Recklinghausen's disease]. (PubMed id 15777582)9 Pinson S. and Wolkenstein P. (Rev Med Interne 2005)
    415. Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. (PubMed id 12696059)9 Jenne D.E....Kehrer-Sawatzki H. (Genes Chromosomes Cancer 2003)
    416. A novel cytokine pathway suppresses glial cell melanogenesis after injury to adult nerve. (PubMed id 12427839)9 Rizvi T.A....Ratner N. (J. Neurosci. 2002)
    417. Human breast cancer MDA-MB-231 cells fail to express the neurofibromin protein, lack its type I mRNA isoform and show accumulation of P-MAPK and activated Ras. (PubMed id 11566491)9 Ogata H....De Luca L.M. (Cancer Lett. 2001)
    418. Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma. (PubMed id 11005256)9 Lau N....Guha A. (J. Neuropathol. Exp. Neurol. 2000)
    419. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. (PubMed id 10587576)9 Dorschner M.O....Stephens K. (Hum. Mol. Genet. 2000)
    420. Nf1 and Gmcsf interact in myeloid leukemogenesis. (PubMed id 10678181)9 Birnbaum R.A....Shannon K.M. (Mol. Cell 2000)
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    424. Suppression of a human colon cancer cell line by introduction of an exogenous NF1 gene. (PubMed id 8665528)9 Li Y. and White R. (Cancer Res. 1996)
    425. Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1). (PubMed id 7794530)9 Griesser J....Krone W. (Biol. Chem. Hoppe-Seyler 1995)
    426. Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscle. (PubMed id 8980005)9 Norton K.K....Gutmann D.H. (Neurobiol. Dis. 1995)
    427. Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. (PubMed id 7780179)9 Gutmann D.H....Wright D.E. (Dev. Dyn. 1995)
    428. Multiple transcripts of the neurofibromatosis type 1 gene in human brain and in brain tumours. (PubMed id 7874833)9 Takahashi K....Shibahara S. (Clin. Sci. 1994)
    429. Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. (PubMed id 8264648)9 Poullet P....Tamanoi F. (Mol. Cell. Biol. 1994)
    430. Kinetics of interaction between normal and proline 12 Ras and the GTPase-activating proteins, p120-GAP and neurofibromin. The significance of the intrinsic GTPase rate in determining the transforming ability of ras. (PubMed id 8262937)9 Eccleston J.F....Lowe P.N. (J. Biol. Chem. 1993)
    431. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. (PubMed id 19336503)9 Boedeker C.C....Neumann H.P. (J. Clin. Endocrinol. Metab. 2009)
    432. The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. (PubMed id 17647146)9 Altinova A.E....Arslan M. (amp 2007)
    433. The genetic and molecular pathogenesis of NF1 and NF2. (PubMed id 16818172)9 Yohay K.H. (Semin Pediatr Neurol 2006)
    434. Phylogenetic footprinting reveals evolutionarily conserved regions of the gonadotropin-releasing hormone gene that enhance cell-specific expression. (PubMed id 15319450)9 Givens M.L....Mellon P.L. (Mol. Endocrinol. 2004)
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    436. Establishing priorities in neurofibromatosis research: a workshop summary. (PubMed id 11388764)9 MacCollin M....Finkelstein R. (Genet. Med. 2001)
    437. The neurofibromatoses: when less is more. (PubMed id 11257108)9 Gutmann D.H. (Hum. Mol. Genet. 2001)
    438. Tumorigenic properties of neurofibromin-deficient neurofibroma Schwann cells. (PubMed id 11159187)9 Muir D....Wallace M.R. (Am. J. Pathol. 2001)
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    440. CD44 expression is aberrant in benign Schwann cell tumors possessing mutations in the neurofibromatosis type 2, but not type 1, gene. (PubMed id 9354454)9 Sherman L....Ponta H. (Cancer Res. 1997)
    441. Reduced expression of neurofibromin in the soft tissue tumours obtained from patients with neurofibromatosis type I. (PubMed id 7614817)9 Takahashi K....Shibahara S. (Clin. Sci. 1995)
    442. Nosological considerations of the neurofibromatoses. (PubMed id 1293176)9 Viskochil D. and Carey J.C. (J. Dermatol. 1992)
    443. Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. (PubMed id 20130469)9 Milewicz D.M....Reid A.J. (Genet. Med. 2010)
    444. Genome-wide single-nucleotide polymorphism arrays in endometrial carcinomas associate extensive chromosomal instability with poor prognosis and unveil frequent chromosomal imbalances involved in the PI3-kinase pathway. (PubMed id 20062086)9 Murayama-Hosokawa S....Aburatani H. (Oncogene 2010)
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    446. Identification of polymorphisms in the human 11beta-hydroxysteroid dehydrogenase type 2 gene promoter: functional characterization and relevance for salt sensitivity. (PubMed id 17551100)9 Alikhani-Koupaei R....Frey F.J. (FASEB J. 2007)
    447. Topographic molecular profile of pheochromocytomas: role of somatic down-regulation of mismatch repair. (PubMed id 16394087)9 Blanes A....Diaz-Cano S.J. (J. Clin. Endocrinol. Metab. 2006)
    448. Hypokalemic rhabdomyolysis due to WDHA syndrome caused by VIP-producing composite pheochromocytoma: a case in neurofibromatosis type 1. (PubMed id 16027147)9 Onozawa M....Maekawa I. (Jpn. J. Clin. Oncol. 2005)
    449. Early inactivation of p53 tumor suppressor gene cooperating with NF1 loss induces malignant astrocytoma. (PubMed id 16098465)9 Zhu Y....Parada L.F. (Cancer Cell 2005)
    450. Repression of the human adenine nucleotide translocase-2 gene in growth-arrested human diploid cells: the role of nuclear factor-1. (PubMed id 12777383)9 Luciakova K....Nelson B.D. (J. Biol. Chem. 2003)
    451. Retroperitoneal neurofibrosarcoma in a patient with neurofibromatosis. 2: A case report and review of the literature. (PubMed id 14692188)9 Chen Y....Valderrama E. (amp 2003)
    452. Schwann cell proliferative responses to cAMP and Nf1 are mediated by cyclin D1. (PubMed id 11160381)9 Kim H.A....Stiles C.D. (J. Neurosci. 2001)
    453. Tumorigenesis in neurofibromatosis: new insights and potential therapies. (PubMed id 11286939)9 Reed N. and Gutmann D.H. (Trends Mol Med 2001)
    454. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. (PubMed id 11431704)9 Serra E....LA!zaro C. (Nat. Genet. 2001)
    455. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. (PubMed id 10973261)9 Reilly K.M....Jacks T. (Nat. Genet. 2000)
    456. Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. (PubMed id 10863097)9 Kehrer-Sawatzki H....Krone W. (Gene 2000)
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    542. NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. (PubMed id 17215493)9 Dombi E....Widemann B.C. (Neurology 2007)
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    546. NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. (PubMed id 17967772)9 Xu J....Epstein J.A. (Circulation 2007)
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    549. Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. (PubMed id 17215387)9 Lavery W....Stern M. (J. Neurosci. 2007)
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    551. A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. (PubMed id 17704047)9 Bethanis S....Tsagarakis S. (Hormones (Athens) 2007)
    552. Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expression. (PubMed id 16536802)9 Endo H....Shinkai H. (Br. J. Dermatol. 2006)
    553. Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. (PubMed id 17102089)9 Dahia P.L. (Ann. N. Y. Acad. Sci. 2006)
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    556. Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. (PubMed id 16304664)9 Mora J....Catala A. (amp 2006)
    557. Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? (PubMed id 16735498)9 JimAcnez C....Gagel R.F. (J. Clin. Endocrinol. Metab. 2006)
    558. Characteristic genomic imbalances in pediatric pheochromocytoma. (PubMed id 16518846)9 Hering A....Loncarevic I. (amp 2006)
    559. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. (PubMed id 17020470)9 Bertola D.R....Krieger J.E. (Genet. Test. 2006)
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    562. Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations. (PubMed id 16467864)9 Niimi H....Kimura A. (Leukemia 2006)
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    566. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. (PubMed id 16461335)9 Maertens O....Legius E. (Hum. Mol. Genet. 2006)
    567. Diffuse-type tenosynovial giant cell tumor in association with neurofibromatosis type 1-Noonan syndrome: possibly more than a chance relationship. (PubMed id 16723851)9 Posligua L....Dehner L.P. (Am. J. Surg. Pathol. 2006)
    568. Risk-oriented approach to hereditary adrenal pheochromocytoma. (PubMed id 17102110)9 Machens A....Dralle H. (Ann. N. Y. Acad. Sci. 2006)
    569. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. (PubMed id 17087943)9 de Raedt T....Legius E. (Gastroenterology 2006)
    570. Plasminogen activators and their inhibitor gene expression in cutaneous NF1-related neurofibromas. (PubMed id 16408192)9 SirAcn V....Vaheri A. (Arch. Dermatol. Res. 2006)
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    572. Stimulus-evoked release of neuropeptides is enhanced in sensory neurons from mice with a heterozygous mutation of the Nf1 gene. (PubMed id 16298082)9 Hingtgen C.M....Clapp D.W. (Neuroscience 2006)
    573. The mitogen-activated protein kinase/extracellular signal-regulated kinase kinase inhibitor PD184352 (CI-1040) selectively induces apoptosis in malignant schwannoma cell lines. (PubMed id 16239399)9 Mattingly R.R....Reiners J.J. (J. Pharmacol. Exp. Ther. 2006)
    574. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. (PubMed id 16787982)9 Bausch B....Neumann H.P. (J. Clin. Endocrinol. Metab. 2006)
    575. Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot? (PubMed id 16258955)9 CascA^n A....Robledo M. (amp 2006)
    576. Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex. (PubMed id 16524466)9 Donarum E.A....Narayanan V. (BMC Neurosci 2006)
    577. Cerebrospinal fluid proteomic analysis reveals dysregulation of methionine aminopeptidase-2 expression in human and mouse neurofibromatosis 1-associated glioma. (PubMed id 16267007)9 Dasgupta B....Gutmann D.H. (Cancer Res. 2005)
    578. Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. (PubMed id 15665300)9 Dasgupta B....Gutmann D.H. (Cancer Res. 2005)
    579. Solitary subglottic neurofibroma: a report of an unusual manifestation. (PubMed id 15947937)9 GstAPttner M....Neher A. (Eur Arch Otorhinolaryngol 2005)
    580. FNAC diagnosis of MPNST--a case report. (PubMed id 16761762)9 Yadavrao K.A....Kanthirav K.G. (amp 2005)
    581. Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. (PubMed id 16098468)9 Lee S.... Schlisio S. (Cancer Cell 2005)
    582. Schwann cell lines derived from malignant peripheral nerve sheath tumors respond abnormally to platelet-derived growth factor-BB. (PubMed id 15602756)9 Dang I. and DeVries G.H. (J. Neurosci. Res. 2005)
    583. Repeated sequences in CASPASE-5 and FANCD2 but not NF1 are targets for mutation in microsatellite-unstable acute leukemia/myelodysplastic syndrome. (PubMed id 15886296)9 Offman J....Karran P. (Mol. Cancer Res. 2005)
    584. Sensory neurons from Nf1 haploinsufficient mice exhibit increased excitability. (PubMed id 16093333)9 Wang Y....Hingtgen C.M. (J. Neurophysiol. 2005)
    585. The NF1 tumor suppressor critically regulates TSC2 and mTOR. (PubMed id 15937108)9 Johannessen C.M....Cichowski K. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    586. Activating FLT3 mutations are rare in children with juvenile myelomonocytic leukemia. (PubMed id 15390271)9 Gratias E.J....Emanuel P.D. (amp 2005)
    587. A common pathway for genetic events leading to pheochromocytoma. (PubMed id 16098460)9 Maxwell P.H. (Cancer Cell 2005)
    588. RET/PTC-induced gene expression in thyroid PCCL3 cells reveals early activation of genes involved in regulation of the immune response. (PubMed id 15947106)9 Puxeddu E....Fagin J.A. (Endocr. Relat. Cancer 2005)
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    591. Distinctive clinical presentation of a NF-1 patient with loss of heterozygosity of PTCH in his epithelial tumors. (PubMed id 16207184)9 Jacobson E....Smith K. (Int. J. Dermatol. 2005)
    592. New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. (PubMed id 16001332)9 Bertherat J. and Gimenez-Roqueplo A.P. (Horm. Metab. Res. 2005)
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    599. The importance of genome architecture in cancer susceptibility: location, location, location. (PubMed id 15492507)9 Reilly K.M. (Cell Cycle 2004)
    600. Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression. (PubMed id 15123725)9 Scassa M.E....CA!nepa E.T. (J. Biol. Chem. 2004)
    601. Neurofibromatosis type 1 tumour suppressor gene expression is deficient in psoriatic skin in vivo and in vitro: a potential link to increased Ras activity. (PubMed id 14996090)9 Karvonen S.L....Peltonen J. (Br. J. Dermatol. 2004)
    602. Familial segmental neurofibromatosis. (PubMed id 15224714)9 Oguzkan S....Aysun S. (J. Child Neurol. 2004)
    603. Identification of NF1 as a silencer protein of the human adenine nucleotide translocase-2 gene. (PubMed id 15096217)9 Barath P....Nelson B.D. (Eur. J. Biochem. 2004)
    604. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. (PubMed id 14743661)9 Kandt R.S. (Neurol Clin 2003)
    605. Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma. (PubMed id 12822827)9 Krammer U....Frisch H. (J. Child Neurol. 2003)
    606. Cytogenetic characterization of three malignant peripheral nerve sheath tumors. (PubMed id 12810251)9 Frank D....FA1zesi L. (Cancer Genet. Cytogenet. 2003)
    607. Structural fingerprints of the Ras-GTPase activating proteins neurofibromin and p120GAP. (PubMed id 12787671)9 Ahmadian M.R....Scheffzek K. (J. Mol. Biol. 2003)
    608. Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice. (PubMed id 12881715)9 Gutmann D.H....Liskay R.M. (Oncogene 2003)
    609. Characterization and functional analysis of TFPI-2 gene promoter in a human choriocarcinoma cell line. (PubMed id 12757776)9 Hube F.... Gruel Y. (Thromb. Res. 2003)
    610. Leukemic potential of doubly mutant Nf1 and Wv hematopoietic cells. (PubMed id 12393498)9 Ingram D.A....Clapp D.W. (Blood 2003)
    611. [Cognitive impairment in adults with neurofibromatosis type 1]. (PubMed id 12624853)9 Uttner I....Danek A. (Fortschr Neurol Psychiatr 2003)
    612. Malignant blue nevus: a case report and molecular analysis. (PubMed id 12544095)9 Ariyanayagam-Baksh S.M....Barnes E.L. (Am J Dermatopathol 2003)
    613. The mechanism of Ras GTPase activation by neurofibromin. (PubMed id 12667087)9 Phillips R.A....Webb M.R. (Biochemistry 2003)
    614. Brain lipid binding protein in axon-Schwann cell interactions and peripheral nerve tumorigenesis. (PubMed id 12612091)9 Miller S.J....Ratner N. (Mol. Cell. Biol. 2003)
    615. Malignant peripheral nerve sheath tumor cell invasion is facilitated by Src and aberrant CD44 expression. (PubMed id 12730955)9 Su W....Sherman L.S. (Glia 2003)
    616. Bone development in neurofibromatosis 1. (PubMed id 12615500)9 Abdel-Wanis M.E. and Kawahara N. (Med. Hypotheses 2003)
    617. NF1 mutations and molecular testing. (PubMed id 12403553)9 Thomson S.A....Wallace M.R. (J. Child Neurol. 2002)
    618. Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. (PubMed id 11788835)9 Tong J....Zhong Y. (Nat. Neurosci. 2002)
    619. Hyperactivation of protein kinase B and ERK have discrete effects on survival, proliferation, and cytokine expression in Nf1-deficient myeloid cells. (PubMed id 12498719)9 Donovan S....Shannon K.M. (Cancer Cell 2002)
    620. Genetics of neurofibromatosis 1 and the NF1 gene. (PubMed id 12403554)9 Viskochil D. (J. Child Neurol. 2002)
    621. The NFY transcription factor functions as a repressor and activator of the von Willebrand factor promoter. (PubMed id 11895773)9 Peng Y. and Jahroudi N. (Blood 2002)
    622. Aberrant G protein signaling in nervous system tumors. (PubMed id 12296648)9 Woods S.A....Guha A. (J. Neurosurg. 2002)
    623. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease. (PubMed id 11904334)9 Kimura N....Kimura I. (Mod. Pathol. 2002)
    624. Gene-targeted deletion of neurofibromin enhances the expression of a transient outward K+ current in Schwann cells: a protein kinase A-mediated mechanism. (PubMed id 12417644)9 Xu Y....Yamoah E.N. (J. Neurosci. 2002)
    625. Structural and functional characterization of the human PAX7 5'-flanking regulatory region. (PubMed id 12234688)9 Syagailo Y.V....Lesch K.P. (Gene 2002)
    626. Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis. (PubMed id 12237234)9 Koga T....Kikuchi M. (Cancer Genet. Cytogenet. 2002)
    627. Neurofibromin in the brain. (PubMed id 12403558)9 Gutmann D.H. (J. Child Neurol. 2002)
    628. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. (PubMed id 12616676)9 Kandt R.S. (Neurol Clin 2002)
    629. Neurofibromatosis 1. (PubMed id 12432832)9 Lynch T.M. and Gutmann D.H. (Neurol Clin 2002)
    630. Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors. (PubMed id 11406645)9 Birindelli S....Pilotti S. ( a journal of technical methods and pathology 2001)
    631. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. (PubMed id 11404820)9 Astuti D.... Maher E.R. (Am. J. Hum. Genet. 2001)
    632. Cancer-related gene expression profiles in NF1-associated pilocytic astrocytomas. (PubMed id 11294925)9 Li J....Gutmann D.H. (Neurology 2001)
    633. Members of the nuclear factor 1 family reduce the transcriptional potential of the nuclear receptor LXRalpha promoter. (PubMed id 11741331)9 Steffensen K.R....Eskild W. (Biochem. Biophys. Res. Commun. 2001)
    634. Modeling myeloid leukemia tumor suppressor gene inactivation in the mouse. (PubMed id 11407944)9 Shannon K.M....Killeen N. (Semin. Cancer Biol. 2001)
    635. [Bilateral pheochromocytoma associated with duodeno-jejunal GIST in patient with von Recklinghausen disease: report of a clinical case]. (PubMed id 11396074)9 Rizzo S....Rosa G. (Chir Ital 2001)
    636. Genetic aspects of pheochromocytoma. (PubMed id 11308996)9 Koch C.A....Pacak K. (Endocr Regul 2001)
    637. Phosphorylation of neurofibromin by cAMP-dependent protein kinase is regulated via a cellular association of N(G),N(G)-dimethylarginine dimethylaminohydrolase. (PubMed id 11297733)9 Tokuo H....Araki N. (FEBS Lett. 2001)
    638. NF1 tumor suppressor gene function: narrowing the GAP. (PubMed id 11239415)9 Cichowski K. and Jacks T. (Cell 2001)
    639. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. (PubMed id 11468690)9 Jenne D.E.... Kehrer-Sawatzki H. (Am. J. Hum. Genet. 2001)
    640. Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses. (PubMed id 11359370)9 Abdel-Wanis M.E. and Kawahara N. (Med. Hypotheses 2001)
    641. The arginine finger loop of yeast and human GAP is a determinant for the specificity toward Ras GTPase. (PubMed id 11412100)9 te Biesebeke R....Parmeggiani A. (Biochemistry 2001)
    642. Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. (PubMed id 10767330)9 Rutkowski J.L....Legius E. (Hum. Mol. Genet. 2000)
    643. H-ras-1 point mutation in malignant peripheral nerve sheath tumors: polymerase chain reaction restriction fragment length polymorphism analysis and direct sequencing from paraffin-embedded tissues. (PubMed id 10812008)9 Watanabe T....Tsuneyoshi M. (Int. J. Mol. Med. 2000)
    644. Tumor antigen HuR binds specifically to one of five protein-binding segments in the 3'-untranslated region of the neurofibromin messenger RNA. (PubMed id 10673359)9 Haeussler J....Krone W. (Biochem. Biophys. Res. Commun. 2000)
    645. Unequal meiotic crossover: a frequent cause of NF1 microdeletions. (PubMed id 10775528)9 LA^pez Correa C....Legius E. (Am. J. Hum. Genet. 2000)
    646. The neurofibromatosis type 1 (Nf1) tumor suppressor is a modifier of carcinogen-induced pigmentation and papilloma formation in C57BL/6 mice. (PubMed id 10844550)9 Atit R.P....Ratner N. (J. Invest. Dermatol. 2000)
    647. Current topics in pheochromocytoma. (PubMed id 10915008)9 Nakao K....Takaya K. (amp 2000)
    648. A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions. (PubMed id 10843809)9 Jenne D.E.... Thiel G. (Genomics 2000)
    649. Single cell Ras-GTP analysis reveals altered Ras activity in a subpopulation of neurofibroma Schwann cells but not fibroblasts. (PubMed id 10900196)9 Sherman L.S....Ratner N. (J. Biol. Chem. 2000)
    650. A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. (PubMed id 10706287)9 Guo H.F....Zhong Y. (Nature 2000)
    651. [Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells]. (PubMed id 10921317)9 Sakai A. (Nippon Rinsho 2000)
    652. Schwann cell-onion bulb tumor of the trigeminal nerve: hyperplasia, dysplasia or neoplasia? (PubMed id 10651030)9 LaPoint S.F....Sullivan R.P. (Acta Neuropathol. 2000)
    653. [A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension]. (PubMed id 11129996)9 Schuppert F....von zur MA1hlen A. (Dtsch. Med. Wochenschr. 2000)
    654. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. (PubMed id 10754001)9 Yamauchi T....Fukui M. ( a journal of cerebral circulation 2000)
    655. New function for NF1 tumor suppressor. (PubMed id 10692105)9 Koivunen J....Peltonen J. (J. Invest. Dermatol. 2000)
    656. Analysis of mutations in the URR and E6/E7 oncogenes of HPV 16 cervical cancer isolates from central China. (PubMed id 10797293)9 Stephen A.L....Rose B.R. (Int. J. Cancer 2000)
    657. Collision tumour in the pelvic cavity: rectal leiomyosarcoma and prostate adenocarcinoma. (PubMed id 10664249)9 Pavelic J....Pavelic K. (J. Cancer Res. Clin. Oncol. 2000)
    658. Penile neurofibromas. (PubMed id 10528238)9 Kousseff B.G. and Hoover D.L. (Am. J. Med. Genet. 1999)
    659. Characterization of Saccharomyces cerevisiae strains expressing ira1 mutant alleles modeled after disease-causing mutations in NF1. (PubMed id 10706001)9 Gil R. and Seeling J.M. (Mol. Cell. Biochem. 1999)
    660. Sec14p-like domains in NF1 and Dbl-like proteins indicate lipid regulation of Ras and Rho signaling. (PubMed id 10209105)9 Aravind L....Ponting C.P. (Curr. Biol. 1999)
    661. Region-specific astrogliosis in brains of mice heterozygous for mutations in the neurofibromatosis type 1 (Nf1) tumor suppressor. (PubMed id 9878702)9 Rizvi T.A....Ratner N. (Brain Res. 1999)
    662. Correlation between clinicopathological features and karyotype in spindle cell sarcomas. A report of 130 cases from the CHAMP study group. (PubMed id 10362810)9 Fletcher C.D....WillAcn H. (Am. J. Pathol. 1999)
    663. Absence of APOBEC-1 mediated mRNA editing in human carcinomas. (PubMed id 10597235)9 Greeve J....Greten H. (Oncogene 1999)
    664. Aberrant cutaneous expression of the angiogenic factor midkine is associated with neurofibromatosis type-1. (PubMed id 10469340)9 Mashour G.A....Kurtz A. (J. Invest. Dermatol. 1999)
    665. Structural differences between valine-12 and aspartate-12 Ras proteins may modify carcinoma aggression. (PubMed id 10398103)9 Al-Mulla F....Birnie G.D. (J. Pathol. 1999)
    666. Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (PubMed id 10023674)9 Dunn J....Field J.K. (Oncogene 1999)
    667. Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. (PubMed id 10469433)9 Woodruff J.M. (Am. J. Med. Genet. 1999)
    668. Magnesium fluoride-dependent binding of small G proteins to their GTPase-activating proteins. (PubMed id 10555980)9 Graham D.L....Lowe P.N. (Biochemistry 1999)
    669. [HNPCC syndrome, microsatellite instability and NF1 gene alteration]. (PubMed id 10572231)9 Puisieux A. (Bull Cancer 1999)
    670. Neurofibromatosis type 1 peripheral nerve tumors: aberrant activation of the Ras pathway. (PubMed id 10029430)9 Feldkamp M.M....Guha A. (Surg Neurol 1999)
    671. [Pathogenesis of malignant melanoma. Molecular biology aspect]. (PubMed id 10427507)9 Waldmann V....NAoher H. ( Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 1999)
    672. NF1 inactivation cooperates with N-ras in in vivo lymphogenesis activating Erk by a mechanism independent of its Ras-GTPase accelerating activity. (PubMed id 9796699)9 Mangues R....Pellicer A. (Oncogene 1998)
    673. RXRA and HSPA5 map to the telomeric end of dog chromosome 9. (PubMed id 9720182)9 Werner P....Patterson D.F. (Anim. Genet. 1998)
    674. Ras activation in astrocytomas and neurofibromas. (PubMed id 9827227)9 Guha A. (Can J Neurol Sci 1998)
    675. The importance of two conserved arginine residues for catalysis by the ras GTPase-activating protein, neurofibromin. (PubMed id 9545275)9 Sermon B.A....Eccleston J.F. (J. Biol. Chem. 1998)
    676. Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. (PubMed id 9919310)9 Cowley G.S....Gusella J.F. (Somat. Cell Mol. Genet. 1998)
    677. [A rare combination of pheochromocytoma ans somatostatin-rich neuroendocrine tumor of Vater's papilla (carcinoid) in a patient with von Recklinghausen neurofibromatosis]. (PubMed id 9577907)9 Hardt P.D....Hinrichs B. (Z Gastroenterol 1998)
    678. The human PTFgamma/SNAP43 gene: structure, chromosomal location, and identification of a VNTR in 5'-UTR. (PubMed id 9644240)9 Maeng J.H. and Yoon J.B. (J. Biochem. 1998)
    679. Fluoride activation of the Rho family GTP-binding protein Cdc42Hs. (PubMed id 9468490)9 Hoffman G.R....Cerione R.A. (J. Biol. Chem. 1998)
    680. Mutational analysis of N-RAS and GAP-related domain of the neurofibromatosis type 1 gene in chronic myelogenous leukemia. (PubMed id 9783802)9 Garicochea B....Bendit I. (Leuk. Res. 1998)
    681. Ionic currents in normal and neurofibromatosis type 1-affected human Schwann cells: induction of tumor cell K current in normal Schwann cells by cyclic AMP. (PubMed id 9822160)9 Fieber L.A. (J. Neurosci. Res. 1998)
    682. [Neurofibromatosis versus schwannomatosis]. (PubMed id 9676422)9 Mautner V.F....Kluwe L. (Fortschr Neurol Psychiatr 1998)
    683. A role for cyclin-dependent kinase(s) in the modulation of fast anterograde axonal transport: effects defined by olomoucine and the APC tumor suppressor protein. (PubMed id 9742142)9 Ratner N....Brady S.T. (J. Neurosci. 1998)
    684. Secondary leukemias induced by topoisomerase-targeted drugs. (PubMed id 9748598)9 Felix C.A. (Biochim. Biophys. Acta 1998)
    685. Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1. (PubMed id 9452037)9 Horiuchi T....Fujita S. (Hum. Mutat. 1998)
    686. Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals. (PubMed id 9571157)9 Margarit E....Oliva R. (Biochem. Biophys. Res. Commun. 1998)
    687. Fusion activity of transmembrane and cytoplasmic domain chimeras of the influenza virus glycoprotein hemagglutinin. (PubMed id 9420208)9 Schroth-Diez B....Herrmann A. (J. Virol. 1998)
    688. Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1. (PubMed id 9713168)9 Kai S....Sasaki H. (Int. J. Hematol. 1998)
    689. Prolonged extreme thrombocytosis associated with neurofibromatosis type 1. (PubMed id 9042140)9 Hasle H....Tommerup N. (J. Pediatr. 1997)
    690. Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. (PubMed id 9222967)9 Colman S.D....Wallace M.R. (J. Med. Genet. 1997)
    691. Identification of cis-regulatory elements in the upstream regulatory region of human papillomavirus type 59. (PubMed id 9085547)9 Rho J....Choe J. (Virus Res. 1997)
    692. Nf1-deficient mouse Schwann cells are angiogenic and invasive and can be induced to hyperproliferate: reversion of some phenotypes by an inhibitor of farnesyl protein transferase. (PubMed id 9001241)9 Kim H.A....Ratner N. (Mol. Cell. Biol. 1997)
    693. Genetic aberrations in the development and subsequent progression of myelodysplastic syndrome. (PubMed id 9209448)9 Misawa S....Kashima K. (Leukemia 1997)
    694. [Molecular-genetic aspects of neurofibromatosis]. (PubMed id 9190537)9 Hulsebos T.J. (Ned Tijdschr Geneeskd 1997)
    695. Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. (PubMed id 9169039)9 Martinsson T....Kogner P. (Cancer Genet. Cytogenet. 1997)
    696. Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. (PubMed id 9100669)9 Huynh D.P....Pulst S.M. (J. Neuropathol. Exp. Neurol. 1997)
    697. Physical and linkage mapping of human chromosome 17 loci to dog chromosomes 9 and 5. (PubMed id 9177778)9 Werner P....Patterson D.F. (Genomics 1997)
    698. Skin abnormalities in neurofibromatosis 2. (PubMed id 9420538)9 Mautner V.F....Gottschalk J. (Arch Dermatol 1997)
    699. Chemotactic peptide-induced activation of Ras in human neutrophils is associated with inhibition of p120-GAP activity. (PubMed id 9287361)9 Zheng L....Andersson T. (J. Biol. Chem. 1997)
    700. [Evaluation of cancer risk through genetic analysis?]. (PubMed id 9340835)9 Luz A. (Strahlenther Onkol 1997)
    701. Estrogen receptor diminishes DNA-binding activities of chicken GATA-1 and CACCC-binding proteins. (PubMed id 9428796)9 Holth L.T....Davie J.R. (DNA Cell Biol. 1997)
    702. Role of the NF1 gene in leukemogenesis and myeloid growth control. (PubMed id 9407945)9 O'Marcaigh A.S. and Shannon K.M. (J. Pediatr. Hematol. Oncol. 1997)
    703. The rat growth hormone and human cellular retinol binding protein 1 genes share homologous NF1-like binding sites that exert either positive or negative influences on gene expression in vitro. (PubMed id 9303437)9 Leclerc S....GuAcrin S.L. (DNA Cell Biol. 1997)
    704. Cloning and characterization of the human mitochondrial 3-hydroxy-3- methylglutaryl CoA synthase gene. (PubMed id 9305755)9 Boukaftane Y. and Mitchell G.A. (Gene 1997)
    705. Increased neurofibromatosis 1 gene expression in astrocytic tumors: positive regulation by p21-ras. (PubMed id 8668337)9 Gutmann D.H....Guha A. (Oncogene 1996)
    706. Mechanism of inhibition by arachidonic acid of the catalytic activity of Ras GTPase-activating proteins. (PubMed id 8576154)9 Sermon B.A....Lowe P.N. (J. Biol. Chem. 1996)
    707. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells. (PubMed id 8563751)9 Bollag G....Shannon K. (Nat. Genet. 1996)
    708. The translational placement of nucleosome cores in vitro determines the access of the transacting factor suGF1 to DNA. (PubMed id 8932393)9 Patterton H.G. and Hapgood J. (Nucleic Acids Res. 1996)
    709. Ras-GTP levels are elevated in human NF1 peripheral nerve tumors. (PubMed id 8637706)9 Guha A....Boss G. (Oncogene 1996)
    710. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. (PubMed id 8938439)9 Zhuchenko O.... Lee C.C. (Genomics 1996)
    711. Formation of a transition-state analog of the Ras GTPase reaction by Ras-GDP, tetrafluoroaluminate, and GTPase-activating proteins. (PubMed id 8658179)9 Mittal R....Wittinghofer A. (Science 1996)
    712. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. (PubMed id 8824721)9 Carbonara C....Migone N. (amp 1996)
    713. Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report. (PubMed id 8622163)9 Feldkamp M.M....Guha A. (J. Neurosurg. 1996)
    714. Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia. (PubMed id 8563750)9 Largaespada D.A....Copeland N.G. (Nat. Genet. 1996)
    715. [Natural evolution of neurocutaneous syndrome in adults]. (PubMed id 8755348)9 Pou Serradell A. (Rev Neurol 1996)
    716. Expression of the neurofibromatosis 1 (NF1) gene during growth arrest. (PubMed id 8730839)9 Norton K.K....Gutmann D.H. (Neuroreport 1996)
    717. Induction of the HPV16 enhancer activity by Jun-B and c-Fos through cooperation of the promoter-proximal AP-1 site and the epithelial cell type--specific regulatory element in fibroblasts. (PubMed id 8938978)9 Kikuchi K....Yasumoto S. (Virus Genes 1996)
    718. Control of ras activation. (PubMed id 8909796)9 Downward J. (Cancer Surv. 1996)
    719. Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene. (PubMed id 7575561)9 BAPddrich A....NA1rnberg P. (Biochem. Biophys. Res. Commun. 1995)
    720. Neurofibromin expression and astrogliosis in neurofibromatosis (type 1) brains. (PubMed id 7602332)9 Nordlund M.L....Ratner N. (J. Neuropathol. Exp. Neurol. 1995)
    721. Colorectal carcinomas show frequent allelic loss on the long arm of chromosome 17 with evidence for a specific target region. (PubMed id 7734302)9 Leggett B....Ward M. (Br. J. Cancer 1995)
    722. Farnesyltransferase inhibitors block the neurofibromatosis type I (NF1) malignant phenotype. (PubMed id 7627966)9 Yan N....Manne V. (Cancer Res. 1995)
    723. Lack of NF1 expression in a sporadic schwannoma from a patient without neurofibromatosis. (PubMed id 8543966)9 Gutmann D.H....Rutkowski J.L. (J. Neurooncol. 1995)
    724. Different structural requirements within the switch II region of the Ras protein for interactions with specific downstream targets. (PubMed id 7630628)9 Moodie S.A....Wolfman A. (Oncogene 1995)
    725. Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. (PubMed id 7585653)9 Ottini L....Calvieri S. (Cancer Res. 1995)
    726. A conserved region of c-Ha-Ras is required for efficient GTPase stimulation by GTPase activating protein but not neurofibromin. (PubMed id 7499225)9 Yoder-Hill J....Stacey D.W. (J. Biol. Chem. 1995)
    727. Loss of neurofibromatosis type I (NF1) gene expression in pheochromocytomas from patients without NF1. (PubMed id 7542904)9 Gutmann D.H....Moley J.F. (amp 1995)
    728. Analysis of mutations of neurofibromatosis type 1 gene and N-ras gene in acute myelogenous leukemia. (PubMed id 8528106)9 Lee Y.Y....Choi I.Y. (Stem Cells 1995)
    729. Effect of retinoic acid on p21ras and regulators of its activity in neuroblastoma. (PubMed id 7576949)9 Burchill S.A....Lewis I.J. (Eur. J. Cancer 1995)
    730. Properties and regulation of the catalytic domain of Ira2p, a Saccharomyces cerevisiae GTPase-activating protein of Ras2p. (PubMed id 7577970)9 Parrini M.C....Parmeggiani A. (Biochemistry 1995)
    731. Identification and management of inherited cancer susceptibility. (PubMed id 8741802)9 Li F.P. (Environ. Health Perspect. 1995)
    732. Interactions between Ras and Raf: key regulatory proteins in cellular transformation. (PubMed id 8607981)9 Marshall M. (Mol. Reprod. Dev. 1995)
    733. Kinetics of inorganic phosphate release during the interaction of p21ras with the GTPase-activating proteins, p120-GAP and neurofibromin. (PubMed id 7492562)9 Nixon A.E....Webb M.R. (Biochemistry 1995)
    734. Neurofibromatosis type 1: pathology, clinical features and molecular genetics. (PubMed id 7670656)9 von Deimling A....Menon A.G. (Brain Pathol. 1995)
    735. Neurofibromatosis 1 gene (NF1) mutation is a rare genetic event in myelodysplastic syndrome regardless of the disease progression. (PubMed id 7599322)9 Kaneko H....Kashima K. (Int. J. Hematol. 1995)
    736. Regulation of the Ras signalling network. (PubMed id 7945277)9 Maruta H. and Burgess A.W. (Bioessays 1994)
    737. Direct measurement of the binding of RAS to neurofibromin using a scintillation proximity assay. (PubMed id 7887472)9 Skinner R.H....Lowe P.N. (Anal. Biochem. 1994)
    738. Genetic mechanisms of solid tumor oncogenesis. (PubMed id 8140969)9 Kelley M.J. and Johnson B.E. (Adv Intern Med 1994)
    739. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. (PubMed id 7920653)9 Jacks T....Weinberg R.A. (Nat. Genet. 1994)
    740. Activation of the tyrosinase gene promoter by neurofibromin. (PubMed id 7811291)9 Suzuki H....Shibahara S. (Biochem. Biophys. Res. Commun. 1994)

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    Entrez Gene: 4763 HGNC: 7765 AceView: NF1 Ensembl:ENSG00000196712 euGenes: HUgn4763
    ECgene: NF1 Kegg: 4763 H-InvDB: NF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NF1 Genetics and Cytogenetics in Oncology and Haematology
    NF1 Genetic Mutation Analysis Consortiumhttp://www.upmc.edu/Neurofibro/NNFFconsortium.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NF1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NF1 gene:
    Search GeneIP for patents involving NF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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