NF1 Gene
protein-coding GIFtS : 68
GCID: GC17 P029421
neurofibromin 1
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Aliasesfor NF1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Neurofibromin 1 1 2 Neurofibromatosis-Related Protein NF-12 3 NFNS2 5 VRNF2 5 WSS2 5 Neurofibromin1
Export aliases for NF1 gene to outside databases Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632
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Summariesfor NF1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for NF1 : 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) 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)
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Genomic Viewsfor NF1 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000017.10 NC_018928.1 NT_010799.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NF1 gene promoter: AML1a Other transcription factors Search SABiosciences Chromatin IP Primers for NF1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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) 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
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Proteinsfor NF1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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 , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section 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. Variouslevels 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;
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 Q9UMK3Alternative splicing : 5 isoforms : P21359-1 P21359-2 P21359-3 P21359-4 P21359-5 Explore the universe of human proteins at neXtProt for NF1: NX_P21359 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P21359 NF1 Protein expression data from MOPED and PaxDb : About this image
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 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
NF1 for ontologies About GeneDecksing NF1 Antibody Products: Assay Products for NF1:
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Protein
Domains / Familiesfor NF1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NF1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P21359 ProtoNet protein and cluster: P21359
2 Blocks protein families : IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO) IPB001936 Ras GTPase-activating protein UniProtKB/Swiss-Prot: NF1_HUMAN, P21359 Similarity : Contains 1 CRAL-TRIO domainSimilarity : Contains 1 Ras-GAP domain
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Functionfor NF1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: 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
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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 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
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
NF1 for ontologies About GeneDecksing 4 GenomeRNAi human phenotypes for NF1 :Animal Models: Mouse knock-outs for NF1: Nf1 tm1Fcr Nf1 tm2Tyj Nf1 tm1Cbr Nf1 tm1Tyj Nf1 tm1.1Par 15/23 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Nf1) (see all 23 ):
NF1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor NF1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/11 super-pathways (see all 11 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 G-protein signaling TC21 regulation pathway 2 Development VEGF signaling via VEGFR2 - generic cascades 3 MAPK signaling pathway 4 pilocytic astrocytoma 5 Integrated Breast Cancer Pathway
Pathway sources See GeneCards unified pathways Show all pathways 4 EMD Millipore Pathways for NF1 2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NF1 4 GeneGo (Thomson Reuters) Pathways for NF1 5/7 BioSystems Pathways for NF1 (see all 7 ) 1
Kegg Pathway (Kegg details for NF1) :
NF1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NF1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 22)5/548 Interacting proteins for NF1 (P21359 1 , 2 , 3 ENSP00000351015 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 548 )Interactant Interaction Details GeneCard External ID(s) APP P05067 1 , 3 , ENSP00000284981 4 EBI-1172917,EBI-77613 I2D:
score=3 STRING: ENSP00000284981 YWHAE P62258 2 , 3 MINT-7947479 I2D:
score=1 SUMO1 P63165 2 , 3 , ENSP00000376076 4 MINT-3380416 MINT-7947479 I2D:
score=1 STRING: ENSP00000376076 SDC2 P34741 1 , 3 , ENSP00000307046 4 EBI-1172917,EBI-1172957 I2D:
score=3 STRING: ENSP00000307046 GRIN1 Q05586 3 , ENSP00000360616 4 I2D:
score=3 STRING: ENSP00000360616
About this table Gene Ontology (GO): 5/64 biological process terms (GO ID links to tree view) (see all 64 ): About this table
NF1 for ontologies About GeneDecksing
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Drugs & Compoundsfor NF1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
NF1 for compounds About GeneDecksing Browse Tocris compounds for NF1 10/35 Novoseek 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)
Search CenterWatch for drugs/clinical trials and news about NF1
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Transcriptsfor NF1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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 ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section 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 18/25 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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 3 )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
Additional cDNA 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
24/26 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 24/299 AceView cDNA sequences (see all 299 ):
AL120050 AI244300 AA885527 BX118883 M82814 AI273054 D42072 BM013806 AA770360 BM683129 AW173779 T81221 CD244261 M60915 AA749036 CB243676 D12625 AA917437 M38107 BQ007653 BM504583 BP350476 AA744370 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
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Expression for NF1 gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section NF1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image NF1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Heart Atrioventricular Valves Atrioventricular Valve Cells Endocardium, Myocardium Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See NF1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NF1 SOURCE GeneReport for Unigene cluster: Hs.113577 SABiosciences Expression via Pathway-Focused PCR Arrays including NF1 (see all 6 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NF1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat NF1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NF1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NF1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1
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Orthologsfor NF1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for NF1 gene from 3/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
NF11
neurofibromin 1
83.83(n) 95.52(a)
 
396085 XM_415914.3 XP_415914.2
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 57.97(n) 1 60.35(a) 1
 
96F93 43149 1 NM_170253.2 1 NP_733132.2 1
ENSEMBL Gene Tree for NF1 (if available)TreeFam Gene Tree for NF1 (if available)
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Paralogsfor NF1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section 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
NF1 for paralogs About GeneDecksing 5/9 Pseudogenes.org Pseudogenes for NF1 (see all 9 )PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642
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Genomic Variantsfor NF1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for NF1 (29421945 - 29671945 bp, first 250kb of NF1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 8 variations for NF1 4 CNVs : 72861 4999 72862 72860 4 Indels : 40176 42474 61566 34310 Human Gene Mutation Database (HGMD) : NF1 Locus Specific Mutation Databases (LSDB): NF1 5/15 SABiosciences Cancer Mutation PCR Assays for NF1 (see all 15 ):
1 SABiosciences Cancer Mutation PCR Array containing NF1 :
1 SABiosciences qBiomarker Copy Number PCR Array containing NF1 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NF1
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About This Section
NF1 for disorders About GeneDecksing OMIM gene information: 613113 OMIM disorders : 162200 607785 162210 601321 193520 UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [MIM:162200]; also known as von Recklinghausen syndrome. 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 Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1) Defects in NF1 are the cause of Watson syndrome (WS) [MIM:193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1 Defects in NF1 are a cause of familial spinal neurofibromatosis (FSNF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is 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 Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500] 20/110 diseases for NF1 (see all 110 ): About MalaCards cafe-au-lait spots neurofibromatosis juvenile myelomonocytic leukemia watson syndrome myelomonocytic leukemia von hippel-lindau disease li-fraumeni syndrome malignant peripheral nerve sheath tumor familial spinal neurofibromatosis melanoma, desmoplastic neurotrophic multiple endocrine neoplasia neurofibromatosis-noonan syndrome ring chromosome 22 multiple endocrine neoplasia type 2a leukemia optic pathway glioma dental enamel hypoplasia ring chromosomes retinol binding protein tenosynovial giant cell tumor 15 diseases from the University of Copenhagen DISEASES database for NF1 :Neurofibromatosis Neurofibroma Malignant peripheral nerve sheath tumor Malignant glioma Neurilemmoma Optic nerve glioma Genetic disorder Juvenile myelomonocytic leukemia Noonan syndrome Paraganglioma Meningocele Hemangioma Meningioma Learning disability Hydrocephalus 10/92 Novoseek 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 Neurofibromatosis 1 Genetic Association Database (GAD): NF1 Human Genome Epidemiology (HuGE) Navigator: NF1 (38 documents) Export disorders for NF1 gene to outside databases
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Publicationsfor NF1 gene (in
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Associations of this gene to articles via
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About This Section PubMed articles for NF1 gene, integrated from 9 sources (see all 745 ) (see top 10 ): (articles sorted by number of sources associating them with NF1) Utopia : connect your pdf to the dynamic world of online information
NF1 gene analysis based on DHPLC. (PubMed id 12552569) 1 , 2 , 4, 9 De Luca A.... Dallapiccola B. (2003) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919) 1 , 2 , 4 De Luca A.... Dallapiccola B. (2005) 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. (2004) 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. (1999) Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960) 1 , 2 , 9 Li Y.... Viskochil D. (1995) 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. (2003) 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. (1995) Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247) 1 , 2 , 9 Li Y.... Cawthon R.M. (1992) NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PubMed id 12746402) 1 , 2 , 9 Kluwe L.... Mautner V.F. (2003) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PubMed id 9668168) 1 , 2 , 9 Klose A....Nuernberg P. (1998) 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. (1990) Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. (PubMed id 22108604) 1 , 2 Thomas L.... Upadhyaya M. (2012) Noonan syndrome and neurofibromatosis type I in a fam ily with a novel mutation in NF1. (PubMed id 19845691) 1 , 2 NystrAPm A.M....AnnerAcn G. (2009) Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). (PubMed id 15520408) 1 , 2 Ferner R.E.... Johnson M.R. (2004) 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. (2004) 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. (2004) Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. (PubMed id 15389774) 1 , 4 Marui T....Sasaki T. (2004) Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. (PubMed id 14722914) 1 , 4 Kluwe L....Mautner V.F. (2004) Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). (PubMed id 12707950) 1 , 2 Baralle D.... ffrench-Constant C. (2003) Status of the NF1 tumor suppressor locus in uveal melanoma. (PubMed id 12963615) 1 , 4 Foster W.J....Harbour J.W. (2003) Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. (PubMed id 12522551) 1 , 2 Wang Q.... Puisieux A. (2003) NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. (PubMed id 11857752) 1 , 2 Kluwe L.... Mautner V.-F. (2002) 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. (2002) 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. (2001) 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. (2001) 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. (2000) 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. (2000) 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. (1999) Analysis of CpG C-to-T mutations in neurofibromatosis type 1. (PubMed id 10336779) 1 , 2 Krkljus S.... Wallace M.R. (1998) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. (PubMed id 9003501) 1 , 2 Upadhyaya M....Cooper D.N. (1997) Six novel mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 9298829) 1 , 2 Upadhyaya M.... Harper P.S. (1997) Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 9101300) 1 , 2 Hudson J.... Thakker N. (1997) 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. (1997) 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. (1997) Molecular genetics of neurofibromatosis type 1 (NF1). (PubMed id 8825042) 1 , 2 Shen M.H.... Upadhyaya M. (1996) The neurofibromatosis type I messenger RNA undergoes base- modification RNA editing. (PubMed id 8602361) 1 , 2 Skuse G.R.... Smith H.C. (1996) 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. (1996) Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. (PubMed id 8807336) 1 , 2 Wu R....Fryns J.-P. (1996) Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. (PubMed id 8544190) 1 , 2 Upadhyaya M.... Harper P.S. (1995) Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. (PubMed id 7981679) 1 , 2 Purandare S.M.... Connor J.M. (1994) 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. (1994) 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. (1994) 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. (1993) Neurofibromatosis type 1 (NF1): the search for mutations by PCR- heteroduplex analysis on Hydrolink gels. (PubMed id 7904209) 1 , 2 Shen M.H.... Upadhyaya M. (1993) A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. (PubMed id 8417346) 1 , 2 Andersen L.B.... Collins F.S. (1993) Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein. (PubMed id 1339276) 1 , 2 Suzuki H.... Shibahara S. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus. (PubMed id 1302608) 1 , 2 Upadhyaya M.... Harper P.S. (1992) Complete human NF1 cDNA sequence: two alternatively spliced mRNAs and absence of expression in a neuroblastoma line. (PubMed id 1457041) 1 , 2 Bernards A....Gusella J.F. (1992) The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. (PubMed id 1715669) 1 , 3 Skuse G.R....Rowley P.T. (1991) cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. (PubMed id 1783401) 1 , 2 Marchuk D.A....Collins F.S. (1991) Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. (PubMed id 1923522) 1 , 2 Nishi T.... Saya H. (1991) Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. (PubMed id 1662505) 1 , 2 Suzuki Y.... Shibahara S. (1991) Type 1 neurofibromatosis gene: correction. (PubMed id 2125369) 1 , 2 (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. (PubMed id 2114220) 1 , 2 Cawthon R.M.... White R. (1990) Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. (PubMed id 2134734) 1 , 2 Wallace M.R.... Collins F.S. (1990) The neurofibromatosis type 1 gene encodes a protein related to GAP. (PubMed id 2116237) 1 , 2 Xu G.... Weiss R. (1990) The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. (PubMed id 2121370) 1 , 2 Martin G.A.... McCormick F. (1990) Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. (PubMed id 11727265) 1 , 9 Sakamoto A....Tsuneyoshi M. (2001) Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. (PubMed id 9639526) 1 , 9 Side L.E....Shannon K.M. (1998) Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. (PubMed id 18218617) 1 , 9 Patrakitkomjorn S....Araki N. (2008) Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. (PubMed id 19048115) 1 , 9 Sangha N....Cho K.R. (2008) Functional expression of NF1 tumor suppressor protein: association with keratin intermediate filaments during the early development of human epidermis. (PubMed id 12199909) 1 , 9 Malminen M....Peltonen J. (2002) Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I. (PubMed id 7519874) 1 , 9 Gutmann D.H....Collins F.S. (1994) NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? (PubMed id 18183042) 1 , 9 Grisart B....Destree A. (2008) Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein. (PubMed id 15988004) 1 , 9 Yang G....Hiebert S.W. (2005) NF1 tumor suppressor mRNA is targeted to the cell-cell contact zone in Ca(2+)-induced keratinocyte differentiation. (PubMed id 11896214) 1 , 9 Yla-Outinen H....Peltonen J. (2002) Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin. (PubMed id 8176268) 1 , 9 Malhotra R. and Ratner N. (1994) The RasGAP proteins Ira2 and neurofibromin are negati vely regulated by Gpb1 in yeast and ETEA in humans. (PubMed id 20160012) 1 , 9 Phan V.T....McCormick F. (2010) The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family. (PubMed id 18407053) 1 , 9 Yang Q....Liu M. (2008) PU.1, interferon regulatory factor (IRF) 2, and the interferon consensus sequence-binding protein (ICSBP/IRF8) cooperate to activate NF1 transcription in differentiating myeloid cells. (PubMed id 17200120) 1 , 9 Huang W....Eklund E.A. (2007) Leukemia-associated, constitutively active mutants of SHP2 protein tyrosine phosphatase inhibit NF1 transcriptional activation by the interferon consensus sequence binding protein. (PubMed id 16914719) 1 , 9 Huang W....Eklund E.A. (2006) Characterisation of the interaction between syndecan- 2, neurofibromin and CASK: dependence of interaction on syndecan dimerization. (PubMed id 20006588) 1 , 9 Volta M....Roberts R.G. (2010) A retroviral mutagenesis screen reveals strong cooperation between Bcl11a overexpression and loss of the Nf1 tumor suppressor gene. (PubMed id 18948576) 1 , 9 Yin B....Largaespada D.A. (2009) [NF1 mutation analysis in a Chinese family with neuro- fibromatosis type] (PubMed id 18331998) 1 , 9 Huang Y.H....Liu M.G. (2008) The expression of neurofibromin in human osteoblasts and chondrocytes. (PubMed id 18316778) 1 , 9 Chen H....Ma W. (2008) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. (PubMed id 17668375) 1 , 9 Maertens O....Messiaen L. (2007) Angiogenic expression profile of normal and neurofibromin-deficient human Schwann cells. (PubMed id 17404841) 1 , 9 Thomas S.L. and De Vries G.H. (2007) Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt. (PubMed id 16405917) 1 , 9 Boyanapalli M....Mikol D.D. (2006) Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles. (PubMed id 8628317) 1 , 9 Morcos P....Tamanoi F. (1996) RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A. (PubMed id 18592002) 1 , 9 Ahlquist T....Lothe R.A. (2008) Functional analysis of splicing mutations in exon 7 of NF1 gene. (PubMed id 17295913) 1 , 9 Bottillo I....Dallapiccola B. (2007) Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. (PubMed id 17353900) 1 , 9 Flotho C....Niemeyer C.M. (2007) The motor protein kinesin-1 links neurofibromin and merlin in a common cellular pathway of neurofibromatosis. (PubMed id 12191989) 1 , 9 Hakimi M.A....Shiekhattar R. (2002) Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. (PubMed id 1570015) 1 , 9 Basu T.N....Downward J. (1992) Loss of SDHB and NF1 genes in a malignant phyllodes t umor of the breast as detected by oligo-array comparative genomic hybridization . (PubMed id 20082856) 1 , 9 Lee J....Li S. (2010) Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells. (PubMed id 16648142) 1 , 9 Munchhof A.M....Ingram D.A. (2006) The neurofibromatosis type 1 gene product neurofibromin enhances cell motility by regulating actin filament dynamics via the Rho-ROCK-LIMK2-cofilin pathway. (PubMed id 16169856) 1 , 9 Ozawa T....Saya H. (2005) A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient. (PubMed id 10721668) 1 , 9 Park K.C....Eun H.C. (2000) Familial spinal neurofibromatosis: clinical and DNA linkage analysis. (PubMed id 1745350) 1 , 9 Pulst S.M....Korenberg J.R. (1991) Genetic and cellular evidence of vascular inflammatio n in neurofibromin-deficient mice and humans. (PubMed id 20160346) 1 , 9 Lasater E.A....Ingram D.A. (2010) The neurofibromatosis type 1 tumor suppressor control s cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo. (PubMed id 20124472) 1 , 9 Banerjee S....Gutmann D.H. (2010) Mitotic recombination and compound-heterozygous mutat ions are predominant NF1-inactivating mechanisms in children with juvenile myel omonocytic leukemia and neurofibromatosis type 1. (PubMed id 20015894) 1 , 9 Steinemann D....Flotho C. (2010) Schweinfurthin A selectively inhibits proliferation a nd Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GR D-dependent manner. (PubMed id 20442305) 1 , 9 Turbyville T.J....Reilly K.M. (2010) Integrated genomic analysis identifies clinically rel evant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. (PubMed id 20129251) 1 , 9 Verhaak R.G....Hayes D.N. (2010) Effect on the Ras/Raf signaling pathway of post-trans lational modifications of neurofibromin: in silico study of protein modificatio n responsible for regulatory pathways. (PubMed id 19718661) 1 , 9 (2009) A severe form of Noonan syndrome and autosomal dominant cafAc-au-lait spots - evidence for different genetic origins. (PubMed id 19120036) 1 , 9 NystrAPm A.M....Bondeson M.L. (2009) Genome wide molecular analysis of minimally different iated acute myeloid leukemia. (PubMed id 19773259) 1 , 9 Silva F.P....Giphart-Gassler M. (2009) Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. (PubMed id 19601812) 1 , 9 Larizza L....Riva P. (2009) Regulation of the Ras-GTPase activating protein neurofibromin by C-tail phosphorylation: implications for protein kinase C/Ras/extracellular signal-regulated kinase 1/2 pathway signaling and neuronal differentiation. (PubMed id 19220708) 1 , 9 Leondaritis G....Mangoura D. (2009) Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes. (PubMed id 17914445) 1 , 9 De Schepper S....Messiaen L. (2008) Nf1 mutation expands an EGFR-dependent peripheral nerve progenitor that confers neurofibroma tumorigenic potential. (PubMed id 19041782) 1 , 9 Williams J.P....Ratner N. (2008) Growth-dependent repression of human adenine nucleotide translocator-2 (ANT2) transcription: evidence for the participation of Smad and Sp family proteins in the NF1-dependent repressor complex. (PubMed id 18215124) 1 , 9 Luciakova K....Nelson B.D. (2008) Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. (PubMed id 19215943) 1 , 9 Meyer-Rochow G.Y....Benn D.E. (2008) A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. (PubMed id 17514731) 1 , 9 Kebudi R....Yazici H. (2008) The tumor suppressor neurofibromin confers sensitivity to apoptosis by Ras-dependent and Ras-independent pathways. (PubMed id 17096025) 1 , 9 Shapira S....Stein R. (2007) Microsatellite abnormalities and somatic down-regulation of mismatch repair characterize nodular-trabecular muscle-invasive urothelial carcinoma of the bladder. (PubMed id 17880527) 1 , 9 Rubio J....Diaz-Cano S.J. (2007) An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. (PubMed id 17160901) 1 , 9 Upadhyaya M....Messiaen L. (2007) Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells. (PubMed id 16908010) 1 , 9 Thomas S.L....De Vries G.H. (2006) Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells. (PubMed id 16644864) 1 , 9 Li F....Ingram D.A. (2006) Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. (PubMed id 16835897) 1 , 9 Lee M.J....Yu C.L. (2006) Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. (PubMed id 17102080) 1 , 9 Korpershoek E....Dinjens W.N. (2006) Independent NF1 mutations in two large families with spinal neurofibromatosis. (PubMed id 12566521) 1 , 9 Messiaen L....Poyhonen M. (2003) Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. (PubMed id 12807981) 1 , 9 Ars E....Lazaro C. (2003) Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasms. (PubMed id 12152785) 1 , 9 Perry A....Gutmann D.H. (2002) Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B) (PubMed id 10712107) 4, 9 Bahuau M....Vidaud D. (2000) Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. (PubMed id 11140831) 1 , 9 Hamilton S.J. and Friedman J.M. (2000) NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. (PubMed id 10980545) 2 , 9 Boulandet E.G....Wolkenstein P. (2000) Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. (PubMed id 10553997) 1 , 9 Gutmann D.H....Hirbe A. (1999) Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. (PubMed id 10451710) 4, 9 Kluwe L....Mautner V.F. (1999) Neurofibromatosis type 1: piecing the puzzle together. (PubMed id 9706718) 1 , 9 Feldkamp M.M....Guha A. (1998) Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. (PubMed id 8664912) 1 , 9 Robinson P.N....Nurnberg P. (1996) The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes. (PubMed id 1550670) 1 , 9 Daston M.M....Ratner N. (1992) Internal tumor burden in neurofibromatosis Type I pati ents with large NF1 deletions. (PubMed id 22294457) 1 Kluwe L....Mautner V.F. (2012) Neoplasms associated with germline and somatic NF1 gen e mutations. (PubMed id 22240541) 1 Patil S. and Chamberlain R.S. (2012) Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis. (PubMed id 22945628) 1 Dai C....Lindquist S. (2012) Tissue-specific differences in the proportion of mosai c large NF1 deletions are suggestive of a selective growth advantage of hematopo ietic del(+/-) stem cells. (PubMed id 22190464) 1 Roehl A.C....Kehrer-Sawatzki H. (2012) 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. (2012) Dissecting the clinical phenotype associated with mosa ic type-2 NF1 microdeletions. (PubMed id 22581253) 1 Kehrer-Sawatzki H....Mautner V.F. (2012) A fraction of neurofibromin interacts with PML bodies in the nucleus of the CCF astrocytoma cell line. (PubMed id 22293200) 1 Godin F....Benedetti H. (2012) Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326) 1 Tsai Y.C....Cristea I.M. (2012) The neurofibromin 1 type I isoform predominance charac terises female population affected by sporadic breast cancer: preliminary data. (PubMed id 22412049) 1 Marrero D....Salcedo M. (2012) Screening for mutation site on the type I neurofibroma tosis gene in a family. (PubMed id 22207399) 1 Lv M....Li S. (2012) Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. (PubMed id 22585738) 1 Beert E....Debiec-Rychter M. (2012) Cone-rod dystrophy associated with amelogenesis imperf ecta in a child with neurofibromatosis type 1. (PubMed id 21728811) 1 Zobor D....Kohl S. (2012) NF1 microduplications: identification of seven nonrela ted individuals provides further characterization of the phenotype. (PubMed id 22241097) 1 Moles K.J....Shaffer L.G. (2012) Neurofibromin modulates adult hippocampal neurogenesis and behavioral effects of antidepressants. (PubMed id 22399775) 1 Li Y....Parada L.F. (2012) Sensitivity of glioblastomas to clinically available M EK inhibitors is defined by neurofibromin 1 deficiency. (PubMed id 22573716) 1 See W.L....Pieper R.O. (2012) A shared molecular mechanism underlies the human rasop athies Legius syndrome and Neurofibromatosis-1. (PubMed id 22751498) 1 Stowe I.B....McCormick F. (2012) 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. (2012) 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. (2012) Deletion of the tumor-suppressor gene NF1 occurs in 5% of myeloid malignancies and is accompanied by a mutation in the remaining allel e in half of the cases. (PubMed id 22015770) 1 Haferlach C....Haferlach T. (2012) The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently acco mpanied by alterations of the RUNX1, KRAS and NRAS and NF1 genes and mediates a dverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML. (PubMed id 21283084) 1 Haferlach C....Schnittger S. (2011) Neurofibromin (Nf1) is required for skeletal muscle d evelopment. (PubMed id 21478499) 1 Kossler N....Kolanczyk M. (2011) S100B and neurofibromin immunostaining and X-inactiva tion patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas. (PubMed id 21674567) 1 Tucker T....Friedman J.M. (2011) Immune response and mitochondrial metabolism are commo nly deregulated in DMD and aging skeletal muscle. (PubMed id 22096509) 1 Baron D....Pereon Y. (2011) A molecular analysis of individuals with neurofibroma tosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genot ype-phenotype correlations. (PubMed id 21278392) 1 Sharif S....Evans D.G. (2011) Structural and biochemical consequences of NF1 associ ated nontruncating mutations in the Sec14-PH module of neurofibromin. (PubMed id 21089070) 1 Welti S....Scheffzek K. (2011) Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048) 1 Danielsen J.M....Nielsen M.L. (2011) System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692) 2 Rigbolt K.T....Blagoev B. (2011) Mosaic type-1 NF1 microdeletions as a cause of both g eneralized and segmental neurofibromatosis type-1 (NF1). (PubMed id 21280148) 1 Messiaen L....Kehrer-Sawatzki H. (2011) Perinatal or adult Nf1 inactivation using tamoxifen-i nducible PlpCre each cause neurofibroma formation. (PubMed id 21551249) 1 Mayes D.A....Ratner N. (2011) The NF1 gene contains hotspots for L1 endonuclease-dep endent de novo insertion. (PubMed id 22125493) 1 Wimmer K....Messiaen L. (2011) A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473) 1 Wagner S.A....Choudhary C. (2011) The probable cell of origin of NF1- and PDGF-driven gl ioblastomas. (PubMed id 21931722) 1 Hambardzumyan D....Michor F. (2011) Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. (PubMed id 22105171) 1 Wang H.F....Hsueh Y.P. (2011) Neurofibromatosis-1 heterozygosity increases microgli a in a spatially and temporally restricted pattern relevant to mouse optic glio ma formation and growth. (PubMed id 21157378) 1 Simmons G.W....Gutmann D.H. (2011) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011) Absence of exon 17 c.2970-2872delAAT mutation in Turki sh NF1 patients with mild phenotype. (PubMed id 21732117) 1 Terzi Y.K....Ayter S. (2011) Familial spinal neurofibromatosis due to a multiexoni c NF1 gene deletion. (PubMed id 21365283) 1 Pizzuti A....Dallapiccola B. (2011) TGF-I^ signals the formation of a unique NF1/Smad4-dep endent transcription repressor-complex in human diploid fibroblasts. (PubMed id 21782795) 1 Luciakova K....Nelson B.D. (2011) Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. (PubMed id 21838856) 2 Ponti G.... Seidenari S. (2011) A functional tetranucleotide (AAAT) polymorphism in a n Alu element in the NF1 gene is associated with mental retardation. (PubMed id 21236316) 1 VAcdrine S.M....Andres C.R. (2011) Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422) 1 Li S....Dorf M.E. (2011) A novel NF1 gene mutation in an Italian family with n eurofibromatosis type 1. (PubMed id 20927530) 1 Gabriele A.L....Quattrone A. (2011) Variable expression of neurofibromatosis 1 in monozyg otic twins. (PubMed id 21337692) 1 Rieley M.B....Schorry E.K. (2011) The role of motor proficiency in bone health in genet ic syndromes. (PubMed id 21244408) 1 Stevenson D.A. (2011) Protein interaction domain mapping of human kinetocho re protein Blinkin reveals a consensus motif for binding of spindle assembly ch eckpoint proteins Bub1 and BubR1. (PubMed id 21199919) 1 Kiyomitsu T....Yanagida M. (2011) Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. (PubMed id 20503322) 1 Bottillo I....Dallapiccola B. (2010) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Intrachromosomal mitotic nonallelic homologous recomb ination is the major molecular mechanism underlying type-2 NF1 deletions. (PubMed id 20725927) 1 Roehl A.C....Kehrer-Sawatzki H. (2010) The role of neurofibromin in N-Ras mediated AP-1 regu lation in malignant peripheral nerve sheath tumors. (PubMed id 20680410) 1 Kraniak J.M....Tainsky M.A. (2010) AML with CBFB-MYH11 rearrangement demonstrate RAS pat hway alterations in 92% of all cases including a high frequency of NF1 deletion s. (PubMed id 20164853) 1 Haferlach C....Haferlach T. (2010) Neurofibromin regulates corticostriatal inhibitory ne tworks during working memory performance. (PubMed id 20624961) 1 Shilyansky C....Silva A.J. (2010) Pediatric early T-cell precursor leukemia with NF1 de letion and high-sensitivity in vitro to tipifarnib. (PubMed id 20428205) 1 Biagi C....Pession A. (2010) Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031) 1 Casabonne D....de Sanjose S. (2010) NF1 is a tumor suppressor in neuroblastoma that deter mines retinoic acid response and disease outcome. (PubMed id 20655465) 1 HAPlzel M....Bernards R. (2010) Clinical characterisation of 29 neurofibromatosis typ e-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. (PubMed id 20543202) 1 Mautner V.F....Kehrer-Sawatzki H. (2010) NF1 inactivation in adult acute myelogenous leukemia. (PubMed id 20505189) 1 Parkin B....Malek S.N. (2010) Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (PubMed id 20002172) 1 Arima Y....Saya H. (2010) Genomic profiling of adult acute lymphoblastic leukem ia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia. (PubMed id 20435627) 1 Okamoto R....Koeffler H.P. (2010) Extended runs of homozygosity at 17q11.2: an associat ion with type-2 NF1 deletions? (PubMed id 20052761) 1 Roehl A.C....Kehrer-Sawatzki H. (2010) Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untransla ted region, exon and intron 1. (PubMed id 21142935) 1 Harder A....Peters H. (2010) 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. (2010) NF1 inactivation revs up Ras in adult acute myelogeno us leukemia. (PubMed id 20587590) 1 Mullally A. and Ebert B.L. (2010) NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. (PubMed id 20513137) 1 Pasmant E....Vidaud D. (2010) [Developmental manifestation in children with neurofi bromatosis type 1] (PubMed id 20422842) 1 Cohen R. and Shuper A. (2010) Nuclear factor 1 synergizes with progesterone recepto r on the mouse mammary tumor virus promoter wrapped around a histone H3/H4 tetr amer by facilitating access to the central hormone-responsive elements. (PubMed id 19940123) 1 Vicent G.P....Beato M. (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231) 2 Olsen J.V....Mann M. (2010) Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086) 1 Bailey S.D....Anand S. (2010) Plexiform neurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells. (PubMed id 20571392) 1 Staser K....Clapp D.W. (2010) Analysis of NF1 somatic mutations in cutaneous neurof ibromas from patients with high tumor burden. (PubMed id 20358387) 1 Thomas L....Upadhyaya M. (2010) Monozygotic twins with Neurofibromatosis type 1, conc ordant phenotype and synchronous development of MPNST and metastasis. (PubMed id 20687928) 1 Melean G....HernA!ndez-Chico C. (2010) Unravelling the genetic basis of variable clinical ex pression in neurofibromatosis 1. (PubMed id 19417008) 1 Sabbagh A....Wolkenstein P. (2009) Neurofibromatosis type 1 with undescribed osseous abn ormalities: new features? (PubMed id 19238080) 1 Leruste A....Lacombe D. (2009) Large-scale proteomics analysis of the human kinome. (PubMed id 19369195) 2 Oppermann F.S.... Daub H. (2009) Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. (PubMed id 19142971) 1 Bottillo I....Dallapiccola B. (2009) Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (PubMed id 19449407) 1 Thiel C....Rauch A. (2009) Neurofibromatosis type 1 and infantile spasms. (PubMed id 18802710) 1 Ruggieri M....Pavone L. (2009) 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. (2009) RNF135 mutations are not present in patients with Sotos syndrome-like features. (PubMed id 19291764) 1 Visser R....Losekoot M. (2009) The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. (PubMed id 19221814) 1 Upadhyaya M....Mautner V. (2009) Genetic mutations associated with cigarette smoking in pancreatic cancer. (PubMed id 19351817) 1 Blackford A....Hruban R.H. (2009) Low U1 snRNP dependence at the NF1 exon 29 donor splice site. (PubMed id 19292874) 1 Raponi M....Baralle D. (2009) Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121) 1 Talmud P.J.... . (2009) 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. (2009) Frequent genomic abnormalities in acute myeloid leuke mia/myelodysplastic syndrome with normal karyotype. (PubMed id 19144660) 1 Akagi T....Koeffler H.P. (2009) Reproductive decisions after prenatal diagnosis in ne urofibromatosis type 1: importance of genetic counseling. (PubMed id 19650418) 1 Terzi Y.K....Ayter S. (2009) Regulation of neuron-specific alternative splicing of neurofibromatosis type 1 pre-mRNA. (PubMed id 18086893) 1 Zhu H....Lou H. (2008) Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336) 2 Cantin G.T....Yates J.R. III (2008) Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). (PubMed id 17960768) 1 Upadhyaya M....Mautner V. (2008) 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. (2008) Nature and mRNA effect of 282 different NF1 point mut ations: focus on splicing alterations. (PubMed id 18546366) 1 Pros E....LA!zaro C. (2008) Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976) 2 Daub H.... Mann M. (2008) 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. (2008) A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648) 2 Dephoure N.... Gygi S.P. (2008) Germline and somatic NF1 gene mutations in plexiform neurofibromas. (PubMed id 18484666) 1 Upadhyaya M....Mautner V. (2008) The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. (PubMed id 18503770) 1 Skoko N....Baralle F.E. (2008) Neurofibromatosis type I: genetics and clinical manifestations. (PubMed id 18214791) 1 Savar A. and Cestari D.M. (2008) Alphavirus production is inhibited in neurofibromin 1-deficient cells through activated RAS signalling. (PubMed id 18485440) 1 Kolokoltsova O.A....Watowich S.J. (2008) 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. (2008) 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. (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. (PubMed id 17299016) 1 Hyman S.L....North K.N. (2007) 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. (2007) Neurofibromatosis: novel and recurrent mutations in Turkish patients. (PubMed id 18021924) 1 Terzi Y.K....Ayter S. (2007) Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation. (PubMed id 17581973) 1 Ho I.S....Zhong Y. (2007) Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. (PubMed id 16944271) 1 Stewart W....Tobias E.S. (2007) Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. (PubMed id 18055911) 1 De Luca A....Dallapiccola B. (2007) Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. (PubMed id 17216419) 1 Hawes J.J....Reilly K.M. (2007) Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1. (PubMed id 17726231) 1 Bendova S....Marikova T. (2007) 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. (2007) Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients. (PubMed id 17563086) 1 Serra E....Lazaro C. (2007) Molecular diagnosis of neurofibromatosis type 1: 2 years experience. (PubMed id 16944272) 1 Griffiths S....Upadhyaya M. (2007) 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. (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) Nf1+/- mast cells induce neurofibroma like phenotypes through secreted TGF-beta signaling. (PubMed id 16835260) 1 Yang F.C....Clapp D.W. (2006) 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. (2006) 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. (2006) An extended consensus motif enhances the specificity of substrate modification by SUMO. (PubMed id 17036045) 1 Yang S.H....Sharrocks A.D. (2006) 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. (2006) 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. (2006) 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. (2006) Double inactivation of NF1 in tibial pseudarthrosis. (PubMed id 16773574) 1 Stevenson D.A....Viskochil D.H. (2006) The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974) 2 Sjoeblom T.... Velculescu V.E. (2006) DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196) 2 Zody M.C.... Nusbaum C. (2006) 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. (2006) The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1. (PubMed id 16479075) 1 Jeong S.Y....Kim H.J. (2006) Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220) 1 Nousiainen M.... Koerner R. (2006) Neurofibromin: a general outlook. (PubMed id 16813595) 1 Trovo-Marqui A.B. and Tajara E.H. (2006) Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (PubMed id 15948193) 2 Bertola D.R.... Krieger J.E. (2005) 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. (2005) TATA-binding protein (TBP)-like factor (TLF) is a fun ctional regulator of transcription: reciprocal regulation of the neurofibromato sis type 1 and c-fos genes by TLF/TRF2 and TBP. (PubMed id 15767669) 1 Chong J.A....Clapham D.E. (2005) Evidence by expression analysis of candidate genes fo r congenital heart defects in the NF1 microdeletion interval. (PubMed id 16138909) 1 Venturin M....Riva P. (2005) Global phosphoproteome of HT-29 human colon adenocarcinoma cells. (PubMed id 16083285) 1 Kim J.-E.... White F.M. (2005) 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. (2005) The effect of extracellular calcium concentration on calcium-mediated cell signaling in NF1 tumor suppressor-deficient keratinocytes. (PubMed id 15735964) 1 Korkiamaki T....Peltonen J. (2005) 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. (2005) Splicing in action: assessing disease causing sequence changes. (PubMed id 16199547) 1 Baralle D. and Baralle M. (2005) Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis. (PubMed id 16005615) 1 Cai Y....Wang S. (2005) Genomic organization and evolution of the NF1 microdeletion region. (PubMed id 15233998) 1 De Raedt T....Legius E. (2004) Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935) 1 Beausoleil S.A....Gygi S.P. (2004) Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197) 1 Brandenberger R.... Stanton L.W. (2004) Expression, purification and preliminary crystallographic characterization of a novel segment from the neurofibromatosis type 1 protein. (PubMed id 15583390) 1 Bonneau F....Scheffzek K. (2004) Neurofibromin is actively transported to the nucleus. (PubMed id 14988005) 1 Vandenbroucke I....Messiaen L. (2004) Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. (PubMed id 14729829) 4 Venturin M....Riva P. (2004) 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. (2004) Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region. (PubMed id 14647436) 1 Zou M.X....Rodenhiser D.I. (2004) Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. (PubMed id 15627836) 1 Trovo-Marqui A.B....Tajara E.H. (2004) Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556) 1 Suzuki Y.... Sugano S. (2004) A new insight into our understanding of neurofibromatosis type 1? (PubMed id 15096131) 1 Chimenti S. (2004) The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1. (PubMed id 15371411) 1 Zhu C....Eklund E.A. (2004) 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. (2003) Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1. (PubMed id 14565158) 4 Tada K....Ushio Y. (2003) 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. (2003) Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. (PubMed id 12872266) 1 Origone P....Bonioli E. (2003) Elevated risk for MPNST in NF1 microdeletion patients. (PubMed id 12660952) 1 De Raedt T....Legius E. (2003) 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. (2003) RT-PCR splicing analysis of the NF1 open reading frame. (PubMed id 12073021) 1 Thomson S.A. and Wallace M.R. (2002) 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. (2002) 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. (2002) Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. (PubMed id 12077339) 1 Bajenaru M.L....Gutmann D.H. (2002) 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. (2002) 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. (2002) Quantification of NF1 transcripts reveals novel highly expressed splice variants. (PubMed id 12095621) 1 Vandenbroucke I....Messiaen L. (2002) 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. (2002) Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. (PubMed id 12438263) 1 Maris J.M....Shusterman S. (2002) 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. (2001) 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. (2001) Bipartite interaction between neurofibromatosis type I protein (neurofibromin) and syndecan transmembrane heparan sulfate proteoglycans. (PubMed id 11356864) 1 Hsueh Y.P....Roberts R.G. (2001) Genotype analysis of the NF1 gene in the French Canadians from the Quebec population. (PubMed id 11754043) 1 Fang L....Thirion J.P. (2001) Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism. 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(2007) Elucidating the altered transcriptional programs in breast cancer using independent component analysis. (PubMed id 17708679) 9 Teschendorff A.E....Caldas C. (2007) Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma. (PubMed id 17712732) 9 Janzarik W.G....Omran H. (2007) NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. (PubMed id 17215493) 9 Dombi E....Widemann B.C. (2007) Gene expression profiling of metastatic brain cancer. (PubMed id 17611651) 9 Zohrabian V.M....Jhanwar-Uniyal M. (2007) Signal transduction in early heart development (II): ventricular chamber specification, trabeculation, and heart valve formation. (PubMed id 17609502) 9 Wagner M. and Siddiqui M.A. (2007) Colocalized cellular schwannoma and plexiform neurofibroma in the absence of neurofibromatosis. Case report. (PubMed id 17695403) 9 Spinner R.J....Gutmann D.H. (2007) NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. (PubMed id 17967772) 9 Xu J....Epstein J.A. (2007) Role of maxillofacial surgery in patients with neurofibromatosis type I. (PubMed id 17538307) 9 Fadda M.T....Calvieri S.S. (2007) Conditional N-rasG12V expression promotes manifestations of neurofibromatosis in a mouse model. (PubMed id 17237809) 9 Saito H....Suzuki N. (2007) Phosphatidylinositol 3-kinase and Akt nonautonomously promote perineurial glial growth in Drosophila peripheral nerves. (PubMed id 17215387) 9 Lavery W....Stern M. (2007) The GAP-related domain of neurofibromin attenuates proliferation and downregulates N- and K-Ras activation in Nf1-negative AML cells. (PubMed id 17222906) 9 Morgan K.J....Largaespada D.A. (2007) 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. (2007) Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expression. (PubMed id 16536802) 9 Endo H....Shinkai H. (2006) Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. (PubMed id 17102089) 9 Dahia P.L. (2006) Molecular and cellular biology of pheochromocytomas and extra-adrenal paragangliomas. (PubMed id 17525480) 9 Tischler A.S. (2006) Combined genome-wide allelotyping and copy number analysis identify frequent genetic losses without copy number reduction in medulloblastoma. (PubMed id 16149064) 9 Langdon J.A....Clifford S.C. (2006) Pediatric paraganglioma: an early manifestation of an adult disease secondary to germline mutations. (PubMed id 16304664) 9 Mora J....Catala A. (2006) Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? (PubMed id 16735498) 9 Jimenez C....Gagel R.F. 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(PubMed id 10775528) 9 Lopez Correa C....Legius E. (2000) 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. (2000) Current topics in pheochromocytoma. (PubMed id 10915008) 9 Nakao K....Takaya K. (2000) 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. (2000) 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. (2000) A neurofibromatosis-1-regulated pathway is required for learning in Drosophila. (PubMed id 10706287) 9 Guo H.F....Zhong Y. (2000) [Characterization of the neurofibromatosis type 1 gene and neurofibromin's role in cells] (PubMed id 10921317) 9 Sakai A. (2000) Schwann cell-onion bulb tumor of the trigeminal nerve: hyperplasia, dysplasia or neoplasia? (PubMed id 10651030) 9 LaPoint S.F....Sullivan R.P. (2000) [A young woman with neurofibromatosis 1 (Recklinghausen disease), abdominal tumor and hypertension] (PubMed id 11129996) 9 Schuppert F....von zur MA1hlen A. (2000) Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. (PubMed id 10754001) 9 Yamauchi T....Fukui M. (2000) New function for NF1 tumor suppressor. (PubMed id 10692105) 9 Koivunen J....Peltonen J. (2000) 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. (2000) Collision tumour in the pelvic cavity: rectal leiomyosarcoma and prostate adenocarcinoma. (PubMed id 10664249) 9 Pavelic J....Pavelic K. (2000) Penile neurofibromas. (PubMed id 10528238) 9 Kousseff B.G. and Hoover D.L. (1999) 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. (1999) 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. (1999) 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. (1999) 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. (1999) Absence of APOBEC-1 mediated mRNA editing in human carcinomas. (PubMed id 10597235) 9 Greeve J....Greten H. (1999) Aberrant cutaneous expression of the angiogenic factor midkine is associated with neurofibromatosis type-1. (PubMed id 10469340) 9 Mashour G.A....Kurtz A. (1999) Structural differences between valine-12 and aspartate-12 Ras proteins may modify carcinoma aggression. (PubMed id 10398103) 9 Al-Mulla F....Birnie G.D. (1999) Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (PubMed id 10023674) 9 Dunn J....Field J.K. (1999) Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. (PubMed id 10469433) 9 Woodruff J.M. (1999) Magnesium fluoride-dependent binding of small G proteins to their GTPase-activating proteins. (PubMed id 10555980) 9 Graham D.L....Lowe P.N. (1999) [HNPCC syndrome, microsatellite instability and NF1 gene alteration] (PubMed id 10572231) 9 Puisieux A. (1999) Neurofibromatosis type 1 peripheral nerve tumors: aberrant activation of the Ras pathway. (PubMed id 10029430) 9 Feldkamp M.M....Guha A. (1999) [Pathogenesis of malignant melanoma. Molecular biology aspect] (PubMed id 10427507) 9 Waldmann V....NAoher H. (1999) 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. (1998) RXRA and HSPA5 map to the telomeric end of dog chromosome 9. (PubMed id 9720182) 9 Werner P....Patterson D.F. (1998) Ras activation in astrocytomas and neurofibromas. (PubMed id 9827227) 9 Guha A. (1998) 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. (1998) 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. (1998) [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. (1998) 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. (1998) Fluoride activation of the Rho family GTP-binding protein Cdc42Hs. (PubMed id 9468490) 9 Hoffman G.R....Cerione R.A. (1998) 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. (1998) 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. (1998) [Neurofibromatosis versus schwannomatosis] (PubMed id 9676422) 9 Mautner V.F....Kluwe L. (1998) 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. (1998) Secondary leukemias induced by topoisomerase-targeted drugs. (PubMed id 9748598) 9 Felix C.A. (1998) Identification of two novel mutations (1448delA and Q 682X) in the NF1 gene and analysis for nonsense mutations in patients with neur ofibromatosis type 1. (PubMed id 9452037) 9 Horiuchi T....Fujita S. (1998) Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals. (PubMed id 9571157) 9 Margarit E....Oliva R. (1998) Fusion activity of transmembrane and cytoplasmic domain chimeras of the influenza virus glycoprotein hemagglutinin. (PubMed id 9420208) 9 Schroth-Diez B....Herrmann A. (1998) Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1. (PubMed id 9713168) 9 Kai S....Sasaki H. (1998) Prolonged extreme thrombocytosis associated with neurofibromatosis type 1. (PubMed id 9042140) 9 Hasle H....Tommerup N. (1997) Four frameshift mutations in neurofibromatosis type 1 caused by small insertions. (PubMed id 9222967) 9 Colman S.D....Wallace M.R. (1997) Identification of cis-regulatory elements in the upstream regulatory region of human papillomavirus type 59. (PubMed id 9085547) 9 Rho J....Choe J. (1997) 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. (1997) Genetic aberrations in the development and subsequent progression of myelodysplastic syndrome. (PubMed id 9209448) 9 Misawa S....Kashima K. (1997) [Molecular-genetic aspects of neurofibromatosis] (PubMed id 9190537) 9 Hulsebos T.J. (1997) Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. (PubMed id 9169039) 9 Martinsson T....Kogner P. (1997) Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. (PubMed id 9100669) 9 Huynh D.P....Pulst S.M. (1997) Physical and linkage mapping of human chromosome 17 loci to dog chromosomes 9 and 5. (PubMed id 9177778) 9 Werner P....Patterson D.F. (1997) Skin abnormalities in neurofibromatosis 2. (PubMed id 9420538) 9 Mautner V.F....Gottschalk J. (1997) 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. (1997) [Evaluation of cancer risk through genetic analysis?] (PubMed id 9340835) 9 Luz A. (1997) Estrogen receptor diminishes DNA-binding activities of chicken GATA-1 and CACCC-binding proteins. (PubMed id 9428796) 9 Holth L.T....Davie J.R. (1997) Role of the NF1 gene in leukemogenesis and myeloid growth control. (PubMed id 9407945) 9 O'Marcaigh A.S. and Shannon K.M. (1997) 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....Guerin S.L. (1997) Cloning and characterization of the human mitochondrial 3-hydroxy-3- methylglutaryl CoA synthase gene. (PubMed id 9305755) 9 Boukaftane Y. and Mitchell G.A. (1997) Increased neurofibromatosis 1 gene expression in astrocytic tumors: positive regulation by p21-ras. (PubMed id 8668337) 9 Gutmann D.H....Guha A. (1996) 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. (1996) 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. (1996) 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. (1996) Ras-GTP levels are elevated in human NF1 peripheral nerve tumors. (PubMed id 8637706) 9 Guha A....Boss G. (1996) 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. (1996) 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. (1996) Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. (PubMed id 8824721) 9 Carbonara C....Migone N. (1996) 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. (1996) 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. (1996) [Natural evolution of neurocutaneous syndrome in adul ts] (PubMed id 8755348) 9 Pou Serradell A. (1996) Expression of the neurofibromatosis 1 (NF1) gene during growth arrest. (PubMed id 8730839) 9 Norton K.K....Gutmann D.H. (1996) 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. (1996) Control of ras activation. (PubMed id 8909796) 9 Downward J. (1996) 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. (1995) Neurofibromin expression and astrogliosis in neurofib romatosis (type 1) brains. (PubMed id 7602332) 9 Nordlund M.L....Ratner N. (1995) 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. (1995) Farnesyltransferase inhibitors block the neurofibromatosis type I (NF1) malignant phenotype. (PubMed id 7627966) 9 Yan N....Manne V. (1995) Lack of NF1 expression in a sporadic schwannoma from a patient without neurofibromatosis. (PubMed id 8543966) 9 Gutmann D.H....Rutkowski J.L. (1995) 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. (1995) Alterations of microsatellites in neurofibromas of von Recklinghausen's disease. (PubMed id 7585653) 9 Ottini L....Calvieri S. (1995) 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. (1995) Loss of neurofibromatosis type I (NF1) gene expression in pheochromocytomas from patients without NF1. (PubMed id 7542904) 9 Gutmann D.H....Moley J.F. (1995) 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. (1995) Effect of retinoic acid on p21ras and regulators of its activity in neuroblastoma. (PubMed id 7576949) 9 Burchill S.A....Lewis I.J. (1995) 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. (1995) Identification and management of inherited cancer susceptibility. (PubMed id 8741802) 9 Li F.P. (1995) Interactions between Ras and Raf: key regulatory proteins in cellular transformation. (PubMed id 8607981) 9 Marshall M. (1995) 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. (1995) Neurofibromatosis type 1: pathology, clinical features and molecular genetics. (PubMed id 7670656) 9 von Deimling A....Menon A.G. (1995) 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. (1995) Regulation of the Ras signalling network. (PubMed id 7945277) 9 Maruta H. and Burgess A.W. (1994) Direct measurement of the binding of RAS to neurofibromin using a scintillation proximity assay. (PubMed id 7887472) 9 Skinner R.H....Lowe P.N. (1994) Genetic mechanisms of solid tumor oncogenesis. (PubMed id 8140969) 9 Kelley M.J. and Johnson B.E. (1994) Tumour predisposition in mice heterozygous for a targ eted mutation in Nf1. (PubMed id 7920653) 9 Jacks T....Weinberg R.A. (1994) Activation of the tyrosinase gene promoter by neurofibromin. (PubMed id 7811291) 9 Suzuki H....Shibahara S. (1994) Genetic basis of neurological tumours. (PubMed id 7952851) 9 Louis D.N. and Seizinger B.R. (1994) The NF1 gene in myelopoiesis and childhood myelodysplastic syndromes. (PubMed id 8302348) 9 Brodeur G.M. (1994) Study of 5'-flanking region of human Cu/Zn superoxide dismutase. (PubMed id 8024598) 9 Kim H.T....Jung G. (1994) TP53 mutations are frequent in malignant NF1 tumors. (PubMed id 7522538) 9 Legius E....Glover T.W. (1994) Species specificity and organ, cellular and subcellular localization of the 100 kDa Ras GTPase activating protein. (PubMed id 8006063) 9 Mollat P....Thang M.N. (1994) Identification of a human rasGAP-related protein containing calmodulin-binding motifs. (PubMed id 8051149) 9 Weissbach L.... Bernards A. (1994) A novel isoform of the neurofibromatosis type-1 mRNA and a switch of isoforms during murine cell differentiation and proliferation. (PubMed id 7958951) 9 Mantani A....Yamamura K. (1994) Genetic analysis is consistent with the hypothesis that NF1 limits myeloid cell growth through p21ras. (PubMed id 7949098) 9 Kalra R....Shannon K.M. (1994) Binding of a member of the NF1 family of transcription factors to two distinct cis-acting elements in the promoter and 5'-flanking region of the human cellular retinol binding protein 1 gene. (PubMed id 7935489) 9 Eskild W....Guerin S.L. (1994) Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma. (PubMed id 8285583) 9 van Meyel D.J....Cairncross J.G. (1994) R-ras interacts with rasGAP, neurofibromin and c-raf but does not regulate cell growth or differentiation. (PubMed id 8108110) 9 Rey I....Hall A. (1994) Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. (PubMed id 8314000) 9 Huynh D.P....Pulst S.M. (1994) The minimal fragments of c-Raf-1 and NF1 that can suppress v-Ha-Ras-induced malignant phenotype. (PubMed id 7982912) 9 Fridman M....Maruta H. (1994) NF1 gene mutation and acute myelogenous leukaemia. (PubMed id 8142156) 9 Horiuchi T....Fujita S. (1994) Low frequency of NF1 gene mutations in malignant glio mas. (PubMed id 8518039) 9 Tenan M....Finocchiaro G. (1993) Human JC virus perfect palindromic nuclear factor 1-binding sequences important for glial cell-specific expression in differentiating embryonal carcinoma cells. (PubMed id 8380093) 9 Kumar K.U....Pater M.M. (1993) Cell transformation by ras and regulation of its protein product. (PubMed id 8299427) 9 Lowy D.R....Look A.T. (1993) [Functions of antioncogene products] (PubMed id 8346943) 9 Akiyama T. (1993) Plasma membrane-targeted ras GTPase-activating protein is a potent suppressor of p21ras function. (PubMed id 8455619) 9 Huang D.C....Hancock J.F. (1993) Autosomal dominant multiple cafAc-au-lait spots and ne urofibromatosis-1: evidence of non-linkage. (PubMed id 8456833) 9 Charrow J....Ward K. (1993) Interaction of GTPase activating proteins (GAPs) with p21ras measured by a novel fluorescence anisotropy method. Essential role of Arg-903 of GAP in activation of GTP hydrolysis on p21ras. (PubMed id 8496156) 9 Brownbridge G.G....Webb M.R. (1993) Role of GTPases and GTPase regulatory proteins in oncogenesis. (PubMed id 8353139) 9 Grunicke H.H. and Maly K. (1993) Characterization of full-length neurofibromin: tubulin inhibits Ras GAP activity. (PubMed id 8491185) 9 Bollag G....Clark R. (1993) Ring chromosome 22 and neurofibromatosis. (PubMed id 1424240) 9 Tommerup N....Petersen G.B. (1992) Interactions between p21ras proteins and their GTPase activating proteins. (PubMed id 1386285) 9 Polakis P. and McCormick F. (1992) [Magnetic resonance imaging of neurofibromatoses] (PubMed id 1300092) 9 Raveau V....Tubiana J.M. (1992) Mechanistic aspects of signaling through Ras in NIH 3T3 cells. (PubMed id 1496380) 9 Zhang K....Lowy D.R. (1992) The role of Gln61 and Glu63 of Ras GTPases in their activation by NF1 and Ras GAP. (PubMed id 1362901) 9 Nur-E-Kamal M.S. and Maruta H. (1992) Neurofibromatosis type 2 appears to be a genetically homogeneous disease. (PubMed id 1496982) 9 Narod S.A....Haines J. (1992) Beta-naphthoflavone induction of a cytochrome P-450 arachidonic acid epoxygenase in chick embryo liver distinct from the aryl hydrocarbon hydroxylase and from phenobarbital-induced arachidonate epoxygenase. (PubMed id 1527070) 9 Nakai K....Rifkind A.B. (1992) Transcriptional regulation by triiodothyronine requires synergistic action of the thyroid receptor with another trans-acting factor. (PubMed id 1324411) 9 Voz M.L....Martial J.A. (1992) Expression of neurofibromin, the neurofibromatosis 1 gene product: studies in human neuroblastoma cells and rat brain. (PubMed id 1436672) 9 Huynh D.P....Pulst S.M. (1992) The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain. (PubMed id 1280127) 9 Teinturier C....Bernheim A. (1992) Watson syndrome: is it a subtype of type 1 neurofibromatosis? (PubMed id 1770531) 9 Allanson J.E....Harper P.S. (1991) Effect of intron A from human cytomegalovirus (Towne) immediate-early gene on heterologous expression in mammalian cells. (PubMed id 1650459) 9 Chapman B.S....Haigwood N.L. (1991) Pathways of oncogenesis in primary brain tumors. (PubMed id 1909900) 9 Steck P.A. and Saya H. (1991) A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage. (PubMed id 1685193) 9 Rodenhiser D.I....Singh S.M. (1991) How does p21ras transform cells? (PubMed id 2031288) 9 Marshall C.J. (1991) Regulatory domains within the P0 promoter of human c-myc. (PubMed id 1945411) 9 Lang J.C....Frame M.C. (1991)
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About This Section 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
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OriGene Antibodies for NF1 OriGene shRNA RFP for NF1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for NF1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NF1 OriGene Protein Over-expression Lysate for NF1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for NF1 OriGene 3'-UTR Clone for NF1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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