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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NOTCH3 Gene

protein-coding   GIFtS: 69
GCID: GC19M015270

Notch 3

(Previous names: Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila))
(Previous symbol: CADASIL)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Notch 31 2 3     Notch Homolog 3 (Drosophila)1
CADASIL1 2 5     IMF22
CASIL2 5     Neurogenic Locus Notch Homolog Protein 32
Notch (Drosophila) Homolog 31     Notch Homolog 32

External Ids:    HGNC: 78831   Entrez Gene: 48542   Ensembl: ENSG000000741817   OMIM: 6002765   UniProtKB: Q9UM473   

Export aliases for NOTCH3 gene to outside databases

Previous GC identifers: GC19M015649 GC19M015115 GC19M015131 GC19M014839


(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 NOTCH3 Gene:
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein
notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an
intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands
have also been identified in human, but precise interactions between these ligands and the human notch homologues
remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal
dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (provided by RefSeq, Jul 2008)

GeneCards Summary for NOTCH3 Gene: 
NOTCH3 (notch 3) is a protein-coding gene. Diseases associated with NOTCH3 include cadasil, and balo's concentric sclerosis, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants. GO annotations related to this gene include enzyme binding and calcium ion binding. An important paralog of this gene is EYS.

UniProtKB/Swiss-Prot: NOTC3_HUMAN, Q9UM47
Function: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate
determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a
transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects
the implementation of differentiation, proliferation and apoptotic programs (By similarity)

Gene Wiki entry for NOTCH3 (Notch 3) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NOTCH3 gene promoter:
         AP-2gamma   GATA-2   C/EBPalpha   CHOP-10   Pax-3   COMP1   STAT3   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOTCH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NOTCH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOTCH3


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

Entrez Gene cytogenetic band: 19p13.2-p13.1   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.2-p13.1

NOTCH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOTCH3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M015270:  view genomic region     (about GC identifiers)

Start:
15,270,444 bp from pter      End:
15,311,792 bp from pter
Size:
41,349 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NOTC3_HUMAN, Q9UM47 (See protein sequence)
Recommended Name: Neurogenic locus notch homolog protein 3 precursor  
Size: 2321 amino acids; 243631 Da
Subunit: Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by
disulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators
for NOTCH3. Interacts with PSMA1. Interacts with HIF1AN
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Notch 3 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is
translocated to the nucleus
Secondary accessions: Q9UEB3 Q9UPL3 Q9Y6L8

Explore the universe of human proteins at neXtProt for NOTCH3: NX_Q9UM47

Explore proteomics data for NOTCH3 at MOPED 

Post-translational modifications:

  • UniProtKB: Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like
    convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible
    form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding,
    it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called
    notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to
    release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity)
  • UniProtKB: Phosphorylated (By similarity)
  • UniProtKB: Hydroxylated by HIF1AN
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UM47

  • NOTCH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NOTCH3 Protein Expression
    REFSEQ proteins: NP_000426.2  
    ENSEMBL proteins: 
     ENSP00000263388   ENSP00000470661   ENSP00000468879   ENSP00000473138  
    Reactome Protein details: Q9UM47
    Human Recombinant Protein Products for NOTCH3: 
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    R&D Systems Recombinant & Natural Proteins for NOTCH3 (Notch-3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NOTCH3
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    Novus Biologicals NOTCH3 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NOTCH3 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region TAS--
    GO:0005654nucleoplasm TAS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005829cytosol TAS--

    NOTCH3 for ontologies           About GeneDecksing



    NOTCH3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of NOTCH3
    R&D Systems Antibodies for NOTCH3 (Notch-3)
    Cell Signaling Technology (CST) Antibodies for NOTCH3 
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    Novus Biologicals NOTCH3 Antibodies
    Abcam antibodies for NOTCH3
    Cloud-Clone Corp. Antibodies for NOTCH3 
    ThermoFisher Antibodies for NOTCH3
    LSBio Antibodies in human, mouse, rat for NOTCH3 

    Assay Products for NOTCH3: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NOTCH3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NOTCH3 
    Cloud-Clone Corp. CLIAs for NOTCH3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    5/13 InterPro protein domains (see all 13):
     IPR024600 DUF3454_notch
     IPR008297 Notch
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry Q9UM47

    ProtoNet protein and cluster: Q9UM47

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000800 LIN-12/notch repeat (LNR) signature
    IPB001881 EGF-like calcium-binding
    IPB002049 Laminin-type EGF-like domain
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: NOTC3_HUMAN, Q9UM47
    Similarity: Belongs to the NOTCH family
    Similarity: Contains 5 ANK repeats
    Similarity: Contains 34 EGF-like domains
    Similarity: Contains 3 LNR (Lin/Notch) repeats


    NOTCH3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NOTC3_HUMAN, Q9UM47
    Function: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate
    determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a
    transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects
    the implementation of differentiation, proliferation and apoptotic programs (By similarity)

         Genatlas biochemistry entry for NOTCH3:
    Drosophila Notch homolog 3,mediating cell-cell interactions that specify cell fate during development,undergoing a
    first proteolytic cleavage by furin (PACE1) in the Golgi during trafficking of Notch to the cell
    surface,undergoing further cleavage by gamma secretase (see PSEN1) releasing an intracellular domain (NICD) which
    translocates to the nucleus and modulates transcription of target genes,putatively involved in translocation with
    acute lymphoblastic/myeloblastic leukemia and in the decision between the endocrine and exocrine fates in the
    developing pancreas

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11101851
    GO:0019899enzyme binding IEA--
         
    NOTCH3 for ontologies           About GeneDecksing


    Phenotypes:
         15/19 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Notch3) (see all 19):
     behavior/neurological  cardiovascular system  embryogenesis  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  nervous system  normal  renal/urinary system 

    NOTCH3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NOTCH3: Notch3tm1Khan Notch3tm1Grid

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NOTCH3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NOTCH3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NOTCH3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOTCH3 

    miRNA
    Products:
        
    miRTarBase miRNAs that target NOTCH3:
    hsa-mir-206 (MIRT000665)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NOTCH3
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NOTCH3 (see all 25):
    hsa-miR-26a-2* hsa-miR-875-3p hsa-miR-3673 hsa-miR-136 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-300 hsa-miR-24-1*
    SwitchGear 3'UTR luciferase reporter plasmidNOTCH3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NOTCH3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NOTCH3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NOTCH3


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NOTCH3 (see all 5)
    OriGene ORF clones in mouse, rat for NOTCH3
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    GenScript: all cDNA clones in your preferred vector: NOTCH3 (NM_000435)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NOTCH3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NOTCH3
    Search LifeMap BioReagents cell lines for NOTCH3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NOTCH3 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Signaling by NOTCH0.74
    Notch Signaling0.31
    3Signaling by NOTCH3
    Signaling by NOTCH30.83
    Pre-NOTCH Processing in the Endoplasmic Reticulum0.36
    A third proteolytic cleavage releases NICD0.43
    4Pre-NOTCH Processing in Golgi
    Pre-NOTCH Processing in Golgi0.55
    Pre-NOTCH Expression and Processing0.55
    5Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NOTCH3
        Notch Signaling Pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NOTCH3
        Notch Signaling
    Molecular Mechanisms of Cancer
    Presenilin-Mediated Signaling
    Epithelial Adherens Junctions

    3 Cell Signaling Technology (CST) Pathways for NOTCH3
        Wnt / Hedgehog / Notch
    Angiogenesis
    Neuroscience

    4 BioSystems Pathways for NOTCH3
        Notch Signaling Pathway
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    Notch signaling pathway

    5/13        Reactome Pathways for NOTCH3 (see all 13)
        Pre-NOTCH Expression and Processing
    Signaling by NOTCH
    A third proteolytic cleavage releases NICD
    Generic Transcription Pathway
    NICD traffics to nucleus


    3         Kegg Pathways  (Kegg details for NOTCH3):
        Dorso-ventral axis formation
    Notch signaling pathway
    MicroRNAs in cancer


    NOTCH3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOTCH3

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

    5/62 Interacting proteins for NOTCH3 (Q9UM471, 2, 3 ENSP000002633884) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253473 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253473 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253473 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253473 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253473 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007219Notch signaling pathway TAS--
    GO:0007220Notch receptor processing TAS--
    GO:0007275multicellular organismal development ----

    NOTCH3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NOTCH3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NOTCH3 (NOTC3)

    3 Novoseek inferred chemical compound relationships for NOTCH3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 58.1 29 19043263 (2), 16256149 (2), 15714997 (1), 17331978 (1) (see all 18)
    arginine 14.1 3 15714997 (1), 11559313 (1)
    calcium 1.73 1 10024441 (1)

    Search CenterWatch for drugs/clinical trials and news about NOTCH3 / NOTC3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NOTCH3 gene: 
    NM_000435.2  

    Unigene Cluster for NOTCH3:

    Notch 3
    Hs.8546  [show with all ESTs]
    Unigene Representative Sequence: U97669
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263388(uc002nan.3 uc002nao.1) ENST00000595514 ENST00000597756
    ENST00000601011 ENST00000600841 ENST00000595045

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate NOTCH3 (see all 25):
    hsa-miR-26a-2* hsa-miR-875-3p hsa-miR-3673 hsa-miR-136 hsa-miR-520d-5p hsa-miR-1263 hsa-miR-300 hsa-miR-24-1*
    SwitchGear 3'UTR luciferase reporter plasmidNOTCH3 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOTCH3

    Additional mRNA sequence: 

    AB209447.1 U97669.1 

    5 DOTS entries:

    DT.217396  DT.91963540  DT.100815125  DT.75121130  DT.91646701 

    24/277 AceView cDNA sequences (see all 277):

    CK904462 BE764071 BU846477 CB270591 AI969777 BI052410 BU859204 BM021466 
    BI523794 AI921030 BU556839 BM021193 CA446395 AA301460 AI473478 BQ919557 
    CR611252 AW194070 BU553672 CA433198 AI274902 AI091531 BM841037 AI559175 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH3    About this scheme

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

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


    ECgene alternative splicing isoforms for NOTCH3

    (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

    NOTCH3 expression in normal human tissues (normalized intensities)      NOTCH3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGAATAGA
    NOTCH3 Expression
    About this image


    NOTCH3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 40 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 32 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Midbrain tegmentum
             Midbrain   
     
     Limb (Muscoskeletal System)    fully expand to see all 10 entries
             Myoblasts Forelimb Ventral Muscles
             limb/forelimb   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Vascular Smooth Muscle Cells Dorsal Aorta
             heart/ventricle   

    See NOTCH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NOTCH3

    SOURCE GeneReport for Unigene cluster: Hs.8546

    UniProtKB/Swiss-Prot: NOTC3_HUMAN, Q9UM47
    Tissue specificity: Ubiquitously expressed in fetal and adult tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including NOTCH3: 
              Notch Signaling Targets in human mouse rat
              Adherens Junctions in human mouse rat
              Stem Cell Signaling in human mouse rat
              Cell Junction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NOTCH3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NOTCH3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NOTCH3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOTCH3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NOTCH3 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Notch31 , 5 Notch gene homolog 3 (Drosophila)5
    notch 31
    84.42(n)1
    90.98(a)1
      17 (17.37 cM)5
    181311  NM_008716.21  NP_032742.11 
     321208205 
    lizard
    (Anolis carolinensis)
    Reptilia NOTCH36
    notch 3
    62(a)
    1 ↔ 1
    2(103176116-103239023)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420334872   -- 76.95(n)    142033487 
    zebrafish
    (Danio rerio)
    Actinopterygii AF152001.12   -- 75.66(n)   58066  AF152001.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SP10703 Notch binding 38(a)
    (best of 2)
      27D2   --


    ENSEMBL Gene Tree for NOTCH3 (if available)
    TreeFam Gene Tree for NOTCH3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NOTCH3 gene
    EYS2  NOTCH42  NOTCH2NL2  NOTCH12  CRB22  NOTCH22  ENSG000002551682  CRB12  
    18/27 SIMAP similar genes for NOTCH3 using alignment to 5 protein entries:     NOTC3_HUMAN (see all proteins) (see all similar genes):
    F9    F9 p22    factor IX F9    CRB1    SVEP1    SLIT3
    PPP1R12A    NOTCH2    FBLN7    NOTCH1    PROS1    VCAN
    SLIT2    DLL3    GABPB1    SNED1    ANKRD44    EYS

    NOTCH3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/1321 SNPs in NOTCH3 are shown (see all 1321)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443044
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0443042 C Y mis40--------
    VAR_0442344
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442342 C S mis40--------
    VAR_0128904
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0128902 C Y mis40--------
    VAR_0128964
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0128962 R C mis40--------
    VAR_0442864
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442862 C R mis40--------
    VAR_0443134
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0443132 C R mis40--------
    VAR_0442694
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442692 C S mis40--------
    VAR_0442614
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442612 C S mis40--------
    VAR_0442924
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442922 C S mis40--------
    VAR_0442504
    Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)4--see VAR_0442502 C Y mis40--------

    HapMap Linkage Disequilibrium report for NOTCH3 (15270444 - 15311792 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NOTCH3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718225CNV Deletion23290073
    nsv911131CNV Loss21882294
    esv997404CNV Loss20482838
    esv34154CNV Loss18971310
    nsv521424CNV Loss19592680
    nsv911132CNV Loss21882294


    Human Gene Mutation Database (HGMD): NOTCH3

    Locus Specific Mutation Databases (LSDB): NOTCH3
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing NOTCH3:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing NOTCH3
    DNA2.0 Custom Variant and Variant Library Synthesis for NOTCH3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600276   
    OMIM disorders: 125310  
    UniProtKB/Swiss-Prot: NOTC3_HUMAN, Q9UM47
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL)
    [MIM:125310]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy,
    dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/58 diseases for NOTCH3 (see all 58):    About MalaCards
    cadasil    balo's concentric sclerosis    cerebrovascular disease    vascular dementia
    pseudobulbar palsy    migraine with aura    hemiplegic migraine    cerebritis
    migraine    varicose veins    cerebral infarction    dementia
    lymphoblastic lymphoma    arterial occlusive disease    cerebrovascular accident    hemangioma
    periodontal disease    ductal carcinoma in situ    alopecia    purpura

    5 diseases from the University of Copenhagen DISEASES database for NOTCH3:
    Cadasil     Migraine     Vascular dementia     Cerebrovascular accident
    Pseudobulbar palsy

    NOTCH3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/27 Novoseek inferred disease relationships for NOTCH3 gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cadasil 99.3 380 15857853 (5), 10766655 (5), 11391502 (5), 16580020 (5) (see all 99)
    infarct 87.7 115 18572291 (2), 12417361 (2), 16949066 (2), 16580020 (2) (see all 99)
    migraine 83 26 16492242 (6), 16426270 (3), 19018300 (2), 15313840 (1) (see all 12)
    dementia vascular 82 11 11757773 (1), 11706120 (1), 11102981 (1), 15857853 (1) (see all 10)
    dementia 76.1 27 11391502 (3), 11591842 (1), 10712431 (1), 10716263 (1) (see all 24)
    subcortical infarction 74.7 3 16580020 (1), 19242647 (1)
    infarction lacunar 74 2 17239802 (1), 12511775 (1)
    stroke 73.4 33 7783868 (2), 11591842 (1), 11757773 (1), 10712431 (1) (see all 31)
    cerebrovascular disease 66.2 13 11861701 (2), 11578869 (1), 19139365 (1), 12480758 (1) (see all 10)
    t-all 60.4 10 11891328 (2), 12524208 (1), 18032925 (1), 16838279 (1) (see all 7)

    GeneTests: NOTCH3
    GeneReviews: NOTCH3
    Genetic Association Database (GAD): NOTCH3
    Human Genome Epidemiology (HuGE) Navigator: NOTCH3 (67 documents)

    Export disorders for NOTCH3 gene to outside databases

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

    PubMed articles for NOTCH3 gene, integrated from 9 sources (see all 349) (see top 10):
    (articles sorted by number of sources associating them with NOTCH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (PubMed id 16009764)1, 2, 4, 9 Peters N.... Dichgans M. (2005)
    2. CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene. (PubMed id 19006080)1, 4, 9 Ungaro C....Quattrone A. (2008)
    3. Investigating the association between Notch3 polymorphism and migraine. (PubMed id 16492242)1, 4, 9 Borroni B....Padovani A. (2006)
    4. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. (PubMed id 12810003)1, 2, 9 Santa Y....Tabira T. (2003)
    5. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. (PubMed id 9388399)1, 2, 9 Joutel A.... Tournier-Lasserve E. (1997)
    6. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. (PubMed id 19242647)1, 4, 9 Lee Y.C....Soong B.W. (2009)
    7. Notch3 gene polymorphism and ischaemic cerebrovascular disease. (PubMed id 11861701)1, 4, 9 Ito D....Fukuuchi Y. (2002)
    8. Investigation of the NOTCH3 and TNFSF7 Genes on C19p13 as Candidates for Migraine. (PubMed id 19018300)1, 4, 9 Smith R.A....Griffiths L. (2008)
    9. Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study. (PubMed id 16426270)1, 4, 9 Schwaag S....Kuhlenbaumer G. (2006)
    10. A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. (PubMed id 11559313)1, 2, 9 Oliveri R.L.... Quattrone A. (2001)
    11. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. (PubMed id 12511775)1, 4, 9 Dong Y....Markus H.S. (2003)
    12. [Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia] (PubMed id 18075987)1, 4, 9 Henao-Arboleda E....Lopera F. (2007)
    13. MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. (PubMed id 19139365)1, 4, 9 Liem M.K....van der Grond J. (2009)
    14. Lack of association between NOTCH3 gene polymorphism and cerebrovascular disease in Japanese patients. (PubMed id 12480758)1, 4, 9 Mizuno T....Nakajima K. (2002)
    15. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. (PubMed id 8878478)1, 2, 9 Joutel A.... Tournier-Lasserve E. (1996)
    16. Clinical spectrum of CADASIL and the effect of cardio vascular risk factors on phenotype: study in 200 consecutively recruited indivi duals. (PubMed id 20167921)1, 4 Adib-Samii P....Markus H.S. (2010)
    17. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    18. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility 'hot-spot'. (PubMed id 20628624)1, 4 Johnatty S.E.... . (2010)
    19. 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, 4 Bailey S.D....Anand S. (2010)
    20. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (2009)
    21. [Periodontal disease as an early clinical sign of cer ebral autosomal dominant arteriopathy with subcortical infarcts and leukoenceph alopathy (CADASIL)] (PubMed id 19859875)1, 4 Luna-Maldonado E....Lopera F. (2009)
    22. Conserved signal peptide of Notch3 inhibits interaction with proteasome. (PubMed id 17292860)1, 2 Zhang Y.... Wang M.M. (2007)
    23. Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor. (PubMed id 17573339)1, 2 Coleman M.L....Schofield C.J. (2007)
    24. Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PubMed id 16899352)1, 4 Passos Gregorio S....Dias-Neto E. (2006)
    25. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    26. Detection of the founder effect in Finnish CADASIL families. (PubMed id 15378071)1, 2 Mykkanen K....Poyhonen M. (2004)
    27. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)1, 2 Wu L.... Griffin J.D. (2002)
    28. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. (PubMed id 12136071)1, 2 Arboleda-Velasquez J.F.... Kosik K.S. (2002)
    29. Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. (PubMed id 10802807)1, 2 Joutel A.... Tournier-Lasserve E. (2000)
    30. Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients. (PubMed id 11032621)1, 4 Wang T....Sharma P. (2000)
    31. MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors. (PubMed id 11101851)1, 2 Wu L....Griffin J.D. (2000)
    32. Human ligands of the Notch receptor. (PubMed id 10079256)1, 2 Gray G.E.... Artavanis-Tsakonas S. (1999)
    33. Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3. (PubMed id 7835890)1, 3 Sugaya K.... Ikemura T. (1994)
    34. An overview of Notch3 function in vascular smooth muscle cells. (PubMed id 17854869)1, 9 Wang T....Trump D. (2008)
    35. Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell prolifera tion. (PubMed id 19825845)1, 9 Takahashi K....Watanabe A. (2010)
    36. Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. (PubMed id 18273901)2, 9 Fouillade C.... Joutel A. (2008)
    37. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway. (PubMed id 14714274)1, 9 Joutel A....Tournier-Lasserve E. (2004)
    38. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. (PubMed id 19174371)1, 9 Tikka S....Kalimo H. (2009)
    39. Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain. (PubMed id 19293235)1, 9 Monet-LeprA-tre M....Joutel A. (2009)
    40. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. (PubMed id 17331978)1, 9 Monet M....Joutel A. (2007)
    41. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. (PubMed id 10712431)1, 9 Joutel A....Tournier-Lasserve E. (2000)
    42. Differential subcellular localization regulates c-Cbl E3 ligase activity upon Notch3 protein in T-cell leukemia. (PubMed id 19966856)1, 9 Checquolo S....Screpanti I. (2010)
    43. Lysosome-dependent degradation of Notch3. (PubMed id 19735738)1, 9 Jia L....Wang M.M. (2009)
    44. Notch3: from subtle structural differences to functional diversity. (PubMed id 18758477)1, 9 Bellavia D....Screpanti I. (2008)
    45. Combined expression of pTalpha and Notch3 in T cell leukemia identifies the requirement of preTCR for leukemogenesis. (PubMed id 11891328)1, 9 Bellavia D....Screpanti I. (2002)
    46. Notch3 signaling promotes the development of pulmonar y arterial hypertension. (PubMed id 19855400)1, 9 Li X....Thistlethwaite P.A. (2009)
    47. A new de novo Notch3 mutation causing CADASIL. (PubMed id 16796587)1, 9 Coto E....Alvarez V. (2006)
    48. Functional analysis of a recurrent missense mutation in Notch3 in CADASIL. (PubMed id 16107360)1, 9 Haritunians T....Schanen C. (2005)
    49. Report of two Chinese families and a review of Mainland Chinese CADASIL patients. (PubMed id 19167727)1, 9 Yin X.Z....Zhao G.H. (2009)
    50. Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit? (PubMed id 18572291)1, 9 Guerrot D....Godin M. (2008)
    51. A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient. (PubMed id 18022198)1, 9 Pescini F....Pantoni L. (2008)
    52. [A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene] (PubMed id 17853970)1, 9 Avila A....Gomez M.I. (2007)
    53. Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 15694192)1, 9 Tang S.C....Yip P.K. (2005)
    54. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. (PubMed id 11755616)2, 9 Joutel A.... Tournier-Lasserve E. (2001)
    55. De novo mutation in the Notch3 gene causing CADASIL. (PubMed id 10716263)1, 9 Joutel A....Bousser M.G. (2000)
    56. Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content. (PubMed id 11102981)2, 9 Escary J.-L.... Joutel A. (2000)
    57. A novel heterozygous mutation in the NOTCH3 gene causing CADASIL. (PubMed id 18941948)1, 9 Andreadou E....Sfagos C. (2008)
    58. Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. (PubMed id 19043263)1, 9 Mizuno T....Nakagawa M. (2008)
    59. Neuromuscular implications in CADASIL. (PubMed id 17878719)1, 9 Finsterer J. (2007)
    60. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (PubMed id 17390743)1, 9 Kusaba T....Matsubara H. (2007)
    61. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. (PubMed id 16807713)1, 9 Annunen-Rasila J.... Majamaa K. (2006)
    62. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. (PubMed id 16717210)1, 9 Kim Y....Kim J.S. (2006)
    63. Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 15096408)1, 9 Rufa A....Federico A. (2004)
    64. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. (PubMed id 10371548)2, 9 Lesnik Oberstein S.A.J.... Haan J. (1999)
    65. Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation. (PubMed id 19372454)1, 9 MykkAonen K....Viitanen M. (2009)
    66. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study. (PubMed id 18948701)1, 9 Mazzucco S....Rizzuto N. (2009)
    67. Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene. (PubMed id 18499132)1, 9 Pradotto L....Mauro A. (2008)
    68. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PubMed id 15364702)2, 9 Opherk C.... Dichgans M. (2004)
    69. A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient. (PubMed id 12589106)2, 9 Moon S.-Y.... Na D.L. (2003)
    70. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. (PubMed id 12146805)2, 9 Kalimo H.... Kalaria R.N. (2002)
    71. No association between multiple sclerosis and the Notch3 gene responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (PubMed id 11413271)4, 9 Broadley S.A....Compston D.A. (2001)
    72. Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. (PubMed id 20038773)1, 9 Pantoni L....Inzitari D. (2010)
    73. NK-like homeodomain proteins activate NOTCH3-signalin g in leukemic T-cells. (PubMed id 19835636)1, 9 Nagel S....Macleod R.A. (2009)
    74. High recurrence of the R1006C NOTCH3 mutation in cent ral Italian patients with cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy (CADASIL). (PubMed id 19576955)1, 9 Cappelli A....Pianese L. (2009)
    75. Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells. (PubMed id 18483410)1, 9 Jin S....Lendahl U. (2008)
    76. Evidence of Notch pathway activation in the ectatic ducts of chronic pancreatitis. (PubMed id 18069660)1, 9 Bhanot U....Moller P. (2008)
    77. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. (PubMed id 15304596)1, 9 Mazzei R....Quattrone A. (2004)
    78. Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (PubMed id 12861102)4, 9 Lesnik Oberstein S.A....Haan J. (2003)
    79. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. (PubMed id 11706120)1, 9 Dichgans M....Gasser T. (2001)
    80. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. (PubMed id 10854111)2, 9 Dichgans M....Gasser T. (2000)
    81. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PubMed id 10227618)2, 9 Dichgans M....Yousry T.A. (1999)
    82. Human equilibrative nucleoside transporter 1 and Notch 3 can predict gemcitabine effects in patients with unresectable pancreatic cance r. (PubMed id 23492684)1 Eto K....Sakamoto N. (2013)
    83. Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL. (PubMed id 23649698)1 Monet-Lepretre M....Joutel A. (2013)
    84. The significance of Notch1 compared with Notch3 in hig h metastasis and poor overall survival in hepatocellular carcinoma. (PubMed id 23468978)1 Zhou L....Dou K. (2013)
    85. Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation. (PubMed id 23412372)1 Ragno M....De Michele G. (2013)
    86. Experimental studies of mitochondrial function in CADA SIL vascular smooth muscle cells. (PubMed id 23036509)1 Viitanen M....Behbahani H. (2013)
    87. Brain microvascular accumulation and distribution of t he NOTCH3 ectodomain and granular osmiophilic material in CADASIL. (PubMed id 23584202)1 Yamamoto Y....Kalaria R.N. (2013)
    88. A rare population of CD24(+)ITGB4(+)Notch(hi) cells dr ives tumor propagation in NSCLC and requires Notch3 for self-renewal. (PubMed id 23845442)1 Zheng Y....Sweet-Cordero E.A. (2013)
    89. Diversity of stroke presentation in CADASIL: study fro m patients harboring the predominant NOTCH3 mutation R544C. (PubMed id 21852154)1 Choi J.C....Kang J.H. (2013)
    90. Notch3 overexpression as potential therapeutic target in advanced stage chemoresistant ovarian cancer. (PubMed id 23010708)1 Rahman M.T....Miyazaki K. (2012)
    91. Overexpression of the Notch3 receptor in non-functioni ng pituitary tumours. (PubMed id 22153798)1 Miao Z....Lu X. (2012)
    92. Targeting Notch, a key pathway for ovarian cancer stem cells, sensitizes tumors to platinum therapy. (PubMed id 23019585)1 McAuliffe S.M....Dinulescu D.M. (2012)
    93. Notch-3 receptor activation drives inflammation and fi brosis following tubulointerstitial kidney injury. (PubMed id 22806125)1 Djudjaj S....Mertens P.R. (2012)
    94. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)
    95. Biochemical characterization and cellular effects of C ADASIL mutants of NOTCH3. (PubMed id 23028706)1 Meng H....Wang M.M. (2012)
    96. Notch3 and HEY-1 as prognostic biomarkers in pancreati c adenocarcinoma. (PubMed id 23226563)1 Mann C.D....Manson M.M. (2012)
    97. Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation. (PubMed id 22079340)1 Ragno M....Trojano L. (2012)
    98. Downregulation of transforming growth factor, beta rec eptor 2 and Notch signaling pathway in human abdominal aortic aneurysm. (PubMed id 22310065)1 Biros E....Golledge J. (2012)
    99. Acetylation controls Notch3 stability and function in T-cell leukemia. (PubMed id 22120716)1 Palermo R....Screpanti I. (2012)
    100. CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells. (PubMed id 22948298)1 Tikka S....Baumann M. (2012)
    101. The role of endothelial cell-bound Jagged1 in Notch3-i nduced human coronary artery smooth muscle cell differentiation. (PubMed id 22204979)1 Xia Y....Mequanint K. (2012)
    102. Notch3 regulates the activation of hepatic stellate ce lls. (PubMed id 22493555)1 Chen Y.X....Zhang S.L. (2012)
    103. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. (PubMed id 22367839)1 Kim H.J....Kim S.H. (2012)
    104. Inhibition of Notch3 signalling induces rhabdomyosarco ma cell differentiation promoting p38 phosphorylation and p21(Cip1) expression a nd hampers tumour cell growth in vitro and in vivo. (PubMed id 22117196)1 Raimondi L....Rota R. (2012)
    105. Modeling ductal carcinoma in situ: a HER2-Notch3 colla boration enables luminal filling. (PubMed id 21743488)1 Pradeep C.R....Yarden Y. (2012)
    106. Exome sequencing reveals an unexpected genetic cause o f disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. (PubMed id 22153900)1 Guerreiro R.J....Singleton A. (2012)
    107. Ultrastructural changes in cerebral capillary pericyte s in aged Notch3 mutant transgenic mice. (PubMed id 22292737)1 Gu X....Zhao L.R. (2012)
    108. Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models. (PubMed id 21702048)1 Di Maio G....Federico A. (2012)
    109. Transendocytosis is impaired in CADASIL-mutant NOTCH3. (PubMed id 22079830)1 Watanabe-Hosomi A....Mizuno T. (2012)
    110. The minimum prevalence of CADASIL in northeast England . (PubMed id 22422895)1 Narayan S.K....Chinnery P.F. (2012)
    111. CADASIL mutation and Balo concentric sclerosis: a link between demyelination and ischemia? (PubMed id 22218279)1 Chitnis T. and Hollmann T.J. (2012)
    112. Silencing of Notch3 Using shRNA driven by survivin pro moter inhibits growth and promotes apoptosis of human T-cell acute lymphoblastic leukemia cells. (PubMed id 21940234)1 Xiang J....Zhang H. (2012)
    113. Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (PubMed id 22664156)1 Testi S....Fabrizi G.M. (2012)
    114. Identification of a known mutation in Notch 3 in famil iar CADASIL in China. (PubMed id 22623959)1 Tan Z.X....Liu S.L. (2012)
    115. CDKN1C/P57 is regulated by the Notch target gene Hes1 and induces senescence in human hepatocellular carcinoma. (PubMed id 22705236)1 Giovannini C....Bolondi L. (2012)
    116. Profiling immunohistochemical expression of NOTCH1-3, JAGGED1, cMET, and phospho-MAPK in 100 carcinomas of unknown primary. (PubMed id 22526456)1 Krikelis D....Pavlidis N. (2012)
    117. Defining NOTCH3 target genes in ovarian cancer. (PubMed id 22396495)1 Chen X....Wang T.L. (2012)
    118. The genetics of white matter lesions. (PubMed id 21951372)1 Assareh A....Sachdev P.S. (2011)
    119. Cyclic stretch stimulates vascular smooth muscle cell alignment by redox-dependent activation of Notch3. (PubMed id 21169401)1 Zhu J.H....Flavahan N.A. (2011)
    120. NOTCH3 gene mutations in subjects clinically suspected of CADASIL. (PubMed id 21616505)1 Mosca L....Penco S. (2011)
    121. Co-aggregate formation of CADASIL-mutant NOTCH3: a si ngle-particle analysis. (PubMed id 21628316)1 Duering M....Opherk C. (2011)
    122. Activation of Notch signaling in human tongue carcino ma. (PubMed id 20819128)1 Zhang T.H....Liao G.Q. (2011)
    123. CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. (PubMed id 21217157)1 Bentley P....Sharma P. (2011)
    124. Role of STRAP in regulating GSK3I^ function and Notch3 stabilization. (PubMed id 21502811)1 Kashikar N.D....Datta P.K. (2011)
    125. Notch3 activation promotes invasive glioma formation in a tissue site-specific manner. (PubMed id 21245095)1 Pierfelice T.J....Eberhart C.G. (2011)
    126. Notch-3 and Notch-4 signaling rescue from apoptosis h uman B-ALL cells in contact with human bone marrow-derived mesenchymal stromal cells. (PubMed id 21602525)1 Nwabo Kamdje A.H....Krampera M. (2011)
    127. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy affecting an African American man: identi fication of a novel 15-base pair NOTCH3 duplication. (PubMed id 22159056)1 Lee S.J....Wang M.M. (2011)
    128. Endothelial cells downregulate apolipoprotein D expre ssion in mural cells through paracrine secretion and Notch signaling. (PubMed id 21705670)1 Pajaniappan M....Lilly B. (2011)
    129. Modulation of microRNA expression in human T-cell dev elopment: targeting of NOTCH3 by miR-150. (PubMed id 21551231)1 Ghisi M....Zanovello P. (2011)
    130. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. (PubMed id 20935329)1 Wang Z....Wu S. (2011)
    131. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    132. A NOTCH3-mediated squamous cell differentiation progr am limits expansion of EMT-competent cells that express the ZEB transcription f actors. (PubMed id 21890822)1 Ohashi S....Nakagawa H. (2011)
    133. Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant ar teriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 21940951)1 Wallays G....Dewerchin M. (2011)
    134. Genetic variants of the NOTCH3 gene in the elderly an d magnetic resonance imaging correlates of age-related cerebral small vessel di sease. (PubMed id 22006983)1 Schmidt H....Schmidt R. (2011)
    135. Expression patterns of Notch receptors and their liga nds Jagged and Delta in human placenta. (PubMed id 21726900)1 Herr F....Zygmunt M. (2011)
    136. Notch signaling modulates MUC16 biosynthesis in an in vitro model of human corneal and conjunctival epithelial cell differentiation. (PubMed id 21508102)1 Xiong L....ArgA1eso P. (2011)
    137. Association analysis of Notch pathway signalling gene s in diabetic nephropathy. (PubMed id 21103979)1 Kavanagh D....Savage D.A. (2011)
    138. HGF/c-Met signalling promotes Notch3 activation and hu man vascular smooth muscle cell osteogenic differentiation in vitro. (PubMed id 21920521)1 Liu Y....Alexander M.Y. (2011)
    139. p.Arg332Cys mutation of NOTCH3 gene in two unrelated J apanese families with CADASIL. (PubMed id 22082899)1 Sano Y....Kanda T. (2011)
    140. 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)
    141. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    142. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    143. Expression of Notch1 to -4 and their ligands in renal cell carcinoma: a tissue microarray study. (PubMed id 21471519)1 Aparicio L.M....BolA^s M.V. (2011)
    144. First report of a pathogenic mutation on exon 24 of th e NOTCH3 gene in a CADASIL family. (PubMed id 21409506)1 Valenti R....Pantoni L. (2011)
    145. Evidence of the cross talk between Wnt and Notch sign aling pathways in non-small-cell lung cancer (NSCLC): Notch3-siRNA weakens the effect of LiCl on the cell cycle of NSCLC cell lines. (PubMed id 20614134)1 Li C....Xue X. (2011)
    146. Hepatitis C virus NS3 protein can activate the Notch- signaling pathway through binding to a transcription factor, SRCAP. (PubMed id 21673954)1 Iwai A....Miyazaki T. (2011)
    147. Notch3 cooperates with the EGFR pathway to modulate a poptosis through the induction of bim. (PubMed id 19881544)1 Konishi J....Dang T.P. (2010)
    148. Notch3 is critical for proper angiogenesis and mural cell investment. (PubMed id 20689064)1 Liu H....Lilly B. (2010)
    149. Prognostic significance of Notch 3 gene expression in ovarian serous carcinoma. (PubMed id 20624166)1 Jung S.G....An H.J. (2010)
    150. Low density lipoprotein receptor-related protein-1 (L RP1) regulates thrombospondin-2 (TSP2) enhancement of Notch3 signaling. (PubMed id 20472562)1 Meng H....Wang M.M. (2010)
    151. Notch and MAML-1 complexation do not detectably alter the DNA binding specificity of the transcription factor CSL. (PubMed id 21124806)1 Del Bianco C....Blacklow S.C. (2010)
    152. Detection of Notch signaling molecules in cemento-oss ifying fibroma of the jaws. (PubMed id 20040020)1 Zhang T.H....Zheng G.S. (2010)
    153. High frequency of exon 10 mutations in the NOTCH3 gen e in Italian CADASIL families: phenotypic peculiarities. (PubMed id 20169447)1 Bianchi S....Federico A. (2010)
    154. Genetically confirmed CADASIL in a pediatric patient. (PubMed id 21078731)1 Cleves C....Hussain M.S. (2010)
    155. Aberrant expression of Notch signaling molecules in p atients with immune thrombocytopenic purpura. (PubMed id 19603167)1 Ma D....Hou M. (2010)
    156. A switch in Notch gene expression parallels stem cell to endothelial transition in infantile hemangioma. (PubMed id 20069356)1 Wu J.K....Kitajewski J. (2010)
    157. Association of a Notch 3 gene polymorphism with migra ine susceptibility. (PubMed id 20813781)1 Menon S....Griffiths L.R. (2010)
    158. Notch3 overexpression is related to the recurrence of ovarian cancer and confers resistance to carboplatin. (PubMed id 20671266)1 Park J.T....Wang T.L. (2010)
    159. Squamous odontogenic tumor of the mandible: a case re port demonstrating immunoexpression of Notch1, 3, 4, Jagged1 and Delta1. (PubMed id 20554499)1 Siar C.H....Kawakami T. (2010)
    160. NOTCH1 and NOTCH3 coordinate esophageal squamous diff erentiation through a CSL-dependent transcriptional network. (PubMed id 20801121)1 Ohashi S....Nakagawa H. (2010)
    161. Notch3 in human breast cancer cell lines regulates os teoblast-cancer cell interactions and osteolytic bone metastasis. (PubMed id 20651241)1 Zhang Z....Hauschka P.V. (2010)
    162. Expression of nuclear Notch3 in cervical squamous cel l carcinomas and its association with adverse clinical outcomes. (PubMed id 20359736)1 Yeasmin S....Miyazaki K. (2010)
    163. Inhibition of Notch3 enhances sensitivity to gemcitab ine in pancreatic cancer through an inactivation of PI3K/Akt-dependent pathway. (PubMed id 19816816)1 Yao J. and Qian C. (2010)
    164. Aldehyde dehydrogenase activity selects for lung aden ocarcinoma stem cells dependent on notch signaling. (PubMed id 21118965)1 Sullivan J.P....Minna J.D. (2010)
    165. Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. (PubMed id 19056668)1 Liguori M....Quattrone A. (2009)
    166. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    167. Cross-talk between tumor and endothelial cells involving the Notch3-Dll4 interaction marks escape from tumor dormancy. (PubMed id 19208840)1 Indraccolo S....Amadori A. (2009)
    168. A case report about CADASlL: mutation in the NOTCH 3 receptor. (PubMed id 20329594)1 Delibas S....Comoglu S.S. (2009)
    169. Expression and clinical significance of Notch receptors in human renal cell carcinoma. (PubMed id 19404845)1 Sun S....Fan D. (2009)
    170. Association of three-gene interaction among MTHFR, AL OX5AP and NOTCH3 with thrombotic stroke: a multicenter case-control study. (PubMed id 19373490)1 Liu J....Hui R. (2009)
    171. NOTCH3 expression is induced in mural cells through an autoregulatory loop that requires endothelial-expressed JAGGED1. (PubMed id 19150886)1 Liu H....Lilly B. (2009)
    172. CADASIL mutations enhance spontaneous multimerization of NOTCH3. (PubMed id 19417009)1 Opherk C....Dichgans M. (2009)
    173. Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways. (PubMed id 18299578)2 Zheng X....Poellinger L. (2008)
    174. Jagged-1 and Notch3 juxtacrine loop regulates ovarian tumor growth and adhesion. (PubMed id 18632624)1 Choi J.H....Wang T.L. (2008)
    175. Deregulated expression of Notch receptors in human hepatocellular carcinoma. (PubMed id 17920003)1 Gao J....Fan D. (2008)
    176. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs. (PubMed id 18626519)1 Bohlega S.A. and Abu-Amero K.K. (2008)
    177. Cysteine-sparing notch3 mutations: cadasil or cadasil variants? (PubMed id 18765654)1 Scheid R....Froster U.G. (2008)
    178. Identification of Pbx1, a potential oncogene, as a Notch3 target gene in ovarian cancer. (PubMed id 18974129)1 Park J.T....Wang T.L. (2008)
    179. NOTCH3 signaling pathway plays crucial roles in the proliferation of ErbB2-negative human breast cancer cells. (PubMed id 18339869)1 Yamaguchi N....Watanabe S. (2008)
    180. CADASIL in Arabs: clinical and genetic findings. (PubMed id 17996090)1 Bohlega S....Abu-Amero K.K. (2007)
    181. Mutational analysis of NOTCH1, 2, 3 and 4 genes in common solid cancers and acute leukemias. (PubMed id 18184405)1 Lee S.H....Lee S.H. (2007)
    182. Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers. (PubMed id 17804716)1 Konishi J....Dang T.P. (2007)
    183. Coexpression of Notch3 and Rgs5 in the pericyte-vascular smooth muscle cell axis in response to pulp injury. (PubMed id 17939118)1 Lovschall H....Kjeldsen A.L. (2007)
    184. A study on Notch signaling in human breast cancer. (PubMed id 17822320)1 Zang S....Guo D. (2007)
    185. Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway. (PubMed id 17822871)1 Wang T....Trump D. (2007)
    186. p14ARF interacts with N-Myc and inhibits its transcriptional activity. (PubMed id 17289033)1 Amente S....Majello B. (2007)
    187. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)
    188. IL-6 triggers malignant features in mammospheres from human ductal breast carcinoma and normal mammary gland. (PubMed id 18060036)1 Sansone P....Bonafe M. (2007)
    189. Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation. (PubMed id 17690848)1 Ragno M....Trojano L. (2007)
    190. p66Shc/Notch-3 interplay controls self-renewal and hypoxia survival in human stem/progenitor cells of the mammary gland expanded in vitro as mammospheres. (PubMed id 17158237)1 Sansone P....Bonafe M. (2007)
    191. Aberrant Notch3 and Notch4 expression in human hepatocellular carcinoma. (PubMed id 17696940)1 Gramantieri L....Bolondi L. (2007)
    192. Impaired expression of Notch signaling genes in aged human skeletal muscle. (PubMed id 17301032)1 Carey K.A....Cameron-Smith D. (2007)
    193. Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene. (PubMed id 16998728)1 Ragno M....Trojano L. (2006)
    194. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 16833034)1 Guidetti D....Dotti M.T. (2006)
    195. Notch-mediated CBF-1/RBP-J{kappa}-dependent regulation of human vascular smooth muscle cell phenotype in vitro. (PubMed id 15987768)1 Morrow D....Cahill P.A. (2005)
    196. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 15818833)2 Soong B.W.... Lu Y.-C. (2005)
    197. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PubMed id 15229130)2 Singhal S.... Markus H.S. (2004)
    198. An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene. (PubMed id 14767686)1 Guidetti D....Brini M. (2004)
    199. Gene symbol: NOTCH3. Disease: CADASIL. (PubMed id 15300988)2 Rojas-Marcos I.... Garcia-Lozano J.R. (2004)
    200. Mutation of the Notch 3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family. (PubMed id 12678157)1 Suwanwela N....Suwanwela N. (2003)
    201. [Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain] (PubMed id 12134625)1 Joutel A. and Tournier-Lasserve E. (2002)
    202. Notch signalling is linked to epidermal cell differentiation level in basal cell carcinoma, psoriasis and wound healing. (PubMed id 11978185)1 Thelu J....Favier B. (2002)
    203. Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. (PubMed id 12210282)1 Ahearn E.P....Krishnan K.R. (2002)
    204. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. (PubMed id 11810186)2 Feuerhake F.... Dichgans M. (2002)
    205. A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling. (PubMed id 12482954)1 Karlstrom H....Lundkvist J. (2002)
    206. The origin of the ankyrin repeat region in Notch intracellular domains is critical for regulation of HES promoter activity. (PubMed id 11404076)1 Beatus P....Lendahl U. (2001)
    207. Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis. (PubMed id 11518718)1 Saxena M.T....Kopan R. (2001)
    208. [Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk] (PubMed id 11481859)4 Yamada H....Sunada Y. (2001)
    209. Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors. (PubMed id 11006133)1 Shimizu K....Hirai H. (2000)
    210. Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. (PubMed id 11058919)2 Grigg R....Griffiths L. (2000)
    211. Neurogenic genes and vertebrate neurogenesis. (PubMed id 8794055)1 Lewis J. (1996)
    212. The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation. (PubMed id 7698746)1 Larsson C.... Lendahl U. (1994)
    213. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. (PubMed id 8485581)1 Tournier-Lasserve E....Maciazek J. (1993)
    214. CADASIL (PubMed id 20301673)1 Lesnik Oberstein S.A.J....Dichgans M. (1993)
    215. Comparison of male and female kidney transplant survival rates. (PubMed id 4557798)1 Beleil O.M....Terasaki P.I. (1972)
    216. Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (PubMed id 12756589)9 Lesnik Oberstein S.A....Haan J. (2003)
    217. Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. (PubMed id 16256149)9 Kim Y....Yoo H.W. (2006)
    218. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. (PubMed id 16871402)9 Ishiko A....Suzuki N. (2006)
    219. Novel mutation of the Notch3 gene in a Japanese patient with CADASIL. (PubMed id 17389000)9 Oki K....Suzuki N. (2007)
    220. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese. (PubMed id 16580020)9 Lee Y.C....Soong B.W. (2006)
    221. CADASIL mutations impair Notch3 glycosylation by Fringe. (PubMed id 15857853)9 Arboleda-Velasquez J.F....Kosik K.S. (2005)
    222. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. (PubMed id 15210536)9 Dotti M.T....Federico A. (2004)
    223. [NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy] (PubMed id 15387979)9 Wang Z.X....Yuan Y. (2004)
    224. Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 12507916)9 Ruchoux M.M....Joutel A. (2003)
    225. [Vascular hereditary dementia CADASIL type in Colombia. III. Linkage analysis to notch3 gene] (PubMed id 11391502)9 Arcos-Burgos O.M....Lopera Restrepo F. (2001)
    226. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)] (PubMed id 19363995)9 Ueda M....Ando Y. (2009)
    227. Notch3 and the Notch3-upregulated RNA-binding protein HuD regulate Ikaros alternative splicing. (PubMed id 17332745)9 Bellavia D....Screpanti I. (2007)
    228. CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. (PubMed id 15350543)9 Peters N....Dichgans M. (2004)
    229. Notch3 and IL-1beta exert opposing effects on a vascular smooth muscle cell inflammatory pathway in which NF-kappaB drives crosstalk. (PubMed id 17881497)9 Clement N....Limon I. (2007)
    230. The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome. (PubMed id 16730748)9 Uyguner Z.O....Wollnik B. (2006)
    231. CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y). (PubMed id 16974063)9 Ishida C....Yamada M. (2006)
    232. Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL. (PubMed id 14667809)9 Donahue C.P. and Kosik K.S. (2004)
    233. [Clinical, radiological, histopathological and genetic findings in a Danish 'CADASIL' family] (PubMed id 10766655)9 Binzer M.N....Stenager E. (2000)
    234. Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 10609671)9 Kamimura K....Tabira T. (1999)
    235. Identification of a key recombinant narrows the CADAS IL gene region to 8 cM and argues against allelism of CADASIL and familial hemi plegic migraine. (PubMed id 8786108)9 Dichgans M....Gasser T. (1996)
    236. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. (PubMed id 7783868)9 Chabriat H....Tehindrazanarivelo A. (1995)
    237. Modulation of Notch signaling by antibodies specific for the extracellular negative regulatory region of NOTCH3. (PubMed id 18182388)9 Li K....Zhou B.B. (2008)
    238. Notch3 inhibition in myelin-reactive T cells down-regulates protein kinase C theta and attenuates experimental autoimmune encephalomyelitis. (PubMed id 18250475)9 Jurynczyk M....Selmaj K. (2008)
    239. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. (PubMed id 17235124)9 Low W.C....Kalaria R.N. (2007)
    240. A novel hereditary small vessel disease of the brain. (PubMed id 16404745)9 Verreault S....Chabriat H. (2006)
    241. The spectrum of Notch3 mutations in 28 Italian CADASIL families. (PubMed id 15834039)9 Dotti M.T....Quattrone A. (2005)
    242. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. (PubMed id 11757773)9 Murakami T....Abe K. (2001)
    243. A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL. (PubMed id 11715067)9 Finnila S....Majamaa K. (2001)
    244. [CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging] (PubMed id 11261256)9 Chabriat H....Bousser M.G. (2000)
    245. Notch signaling in pulmonary hypertension. (PubMed id 20204737)9 Thistlethwaite P.A....Zhang X. (2010)
    246. Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. (PubMed id 19180562)9 Formichi P....Federico A. (2009)
    247. Notch signaling and CADASIL. (PubMed id 19673359)9 Tang S.C....Yip P.K. (2009)
    248. YB-1 acts as a ligand for Notch-3 receptors and modul ates receptor activation. (PubMed id 19640841)9 Rauen T....Mertens P.R. (2009)
    249. EWS-FLI1 suppresses NOTCH-activated p53 in Ewing's sarcoma. (PubMed id 18757425)9 Ban J....Kovar H. (2008)
    250. A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 16949066)9 Au K.M....Chan A.Y. (2007)
    251. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy. (PubMed id 17368936)9 Ungaro C....Mazzei R. (2007)
    252. CADASIL-causing mutations do not alter Notch3 receptor processing and activation. (PubMed id 16791082)9 Low W.C....Kalaria R.N. (2006)
    253. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy (CADASIL). (PubMed id 15876982)9 Lesnik Oberstein S.A. and Haan J. (2004)
    254. Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. (PubMed id 11591842)9 de la Pena P....Garesse R. (2001)
    255. Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. (PubMed id 11244211)9 Kotorii S....Tabira T. (2001)
    256. CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian perspective. (PubMed id 11535004)9 Chuah T.L....Lander C. (2001)
    257. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. (PubMed id 10969905)9 Uyama E....Uchino M. (2000)
    258. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. (PubMed id 10476042)9 Kalimo H....Winblad B. (1999)
    259. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval. (PubMed id 8554054)9 Ducros A....Delrieu O. (1996)
    260. [CADASIL] (PubMed id 19069156)9 Uchino M. (2008)
    261. Amplicon profiles in ovarian serous carcinomas. (PubMed id 17351921)9 Nakayama K....Wang T.L. (2007)
    262. Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. (PubMed id 17272761)9 Liem M.K....Lesnik Oberstein S.A. (2007)
    263. Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. (PubMed id 16864835)9 Saiki S....Hirose G. (2006)
    264. The prevalence of cerebral autosomal dominant arterio pathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west o f Scotland. (PubMed id 15834040)9 Razvi S.S....Muir K.W. (2005)
    265. Incipient CADASIL. (PubMed id 12756134)9 Lesnik Oberstein S.A....Haan J. (2003)
    266. Cerebral hemodynamics and white matter hyperintensiti es in CADASIL. (PubMed id 12771575)9 van den Boom R....van Buchem M.A. (2003)
    267. Distinct and regulated expression of Notch receptors in hematopoietic lineages and during myeloid differentiation. (PubMed id 11745340)9 Jonsson J.I....Nilsson G. (2001)
    268. [Two case reports of cerebral autosomal dominant arteriophaty with subcortical infarctions and leukoencephalopathy (CADASIL)] (PubMed id 11675581)9 Pellicano S....Terra L. (2001)
    269. A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene. (PubMed id 11718749)9 de Freitas G.R....Bogousslavsky J. (2001)
    270. [From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy] (PubMed id 11257815)9 Oberstein S.A....Haan J. (2001)
    271. An animal model for the molecular genetics of CADASIL. (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). (PubMed id 11136906)9 Fryxell K.J....Jordan T.V. (2001)
    272. Migraine with aura and white matter abnormalities: Notch3 mutation. (PubMed id 10802804)9 Ceroni M....Carrera P. (2000)
    273. Detection of complement factor B in the cerebrospinal fluid of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy disease using two-dimensional gel electrophoresis and mass spectrometry. (PubMed id 10717413)9 Unlu M....St Clair D. (2000)
    274. [CADASIL: genetics and physiopathology] (PubMed id 11261257)9 Joutel A....Tournier-Lasserve E. (2000)
    275. Acetazolamide improves cerebral hemodynamics in CADAS IL. (PubMed id 20227091)9 Huang L....Wang H. (2010)
    276. Childhood-onset CADASIL: clinical, imaging, and neuro cognitive features. (PubMed id 20197270)9 Hartley J....Yoon G. (2010)
    277. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease. (PubMed id 20386637)9 Choi J.C. (2010)
    278. Evaluation of brain apoptosis in a CADASIL postmortem case. (PubMed id 19788051)9 Battisti C....Federico A. (2009)
    279. Molecular genetics of migraine. (PubMed id 19455354)9 de Vries B....van den Maagdenberg A.M. (2009)
    280. On the diagnosis of CADASIL. (PubMed id 19542611)9 Ampuero I....de YAcbenes J.G. (2009)
    281. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka. (PubMed id 19683925)9 De Silva K.R....Mizuno T. (2009)
    282. Magnetic resonance findings in leucodystrophies and M S. (PubMed id 19671368)9 Labauge P. (2009)
    283. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old mal e. (PubMed id 19207299)9 Granild-Jensen J....Hansen U.S. (2009)
    284. Valproate activates the Notch3/c-FLIP signaling cascade: a strategy to attenuate white matter hyperintensities in bipolar disorder in late life? (PubMed id 19419383)9 Yuan P....Manji H.K. (2009)
    285. Nerve conduction studies in cerebral autosomal domina nt arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 19488673)9 Kang S.Y....Lee J.S. (2009)
    286. Cadasil. (PubMed id 19539236)9 Chabriat H....Bousser M.G. (2009)
    287. Glycogene expression in conjunctiva of patients with dry eye: downregulation of Notch signaling. (PubMed id 19011014)9 Mantelli F....ArgA1eso P. (2009)
    288. Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: a new disease entity? (PubMed id 17656057)9 Hirabayashi S....Arima K. (2008)
    289. Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL. (PubMed id 18537053)9 Peters N....Dichgans M. (2008)
    290. Homozygosity for a NOTCH3 mutation in a 65-year-old C ADASIL patient with mild symptoms: a family report. (PubMed id 19153638)9 Liem M.K....Helderman-van den Enden A.T. (2008)
    291. NOTCH1 regulates osteoclastogenesis directly in osteoclast precursors and indirectly via osteoblast lineage cells. (PubMed id 18156632)9 Bai S....Teitelbaum S.L. (2008)
    292. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. (PubMed id 17620550)9 Viswanathan A....Chabriat H. (2007)
    293. Neuropsychiatric manifestations in CADASIL. (PubMed id 17726918)9 Chabriat H. and Bousser M.G. (2007)
    294. Genetics of ischaemic stroke. (PubMed id 17239802)9 Dichgans M. (2007)
    295. Notch and Ikaros: not only converging players in T cell leukemia. (PubMed id 18032925)9 Bellavia D....Screpanti I. (2007)
    296. Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA. (PubMed id 17276737)9 Annunen-Rasila J....Majamaa K. (2007)
    297. Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. (PubMed id 17622327)9 Ihalainen S....Baumann M. (2007)
    298. A novel CADASIL-causing mutation in a stroke patient. (PubMed id 17629811)9 Vikelis M....Karageorgiou C.E. (2007)
    299. CUTLL1, a novel human T-cell lymphoma cell line with t(7;9) rearrangement, aberrant NOTCH1 activation and high sensitivity to gamma-secretase inhibitors. (PubMed id 16688224)9 Palomero T....Ferrando A.A. (2006)
    300. Cross talk among Notch3, pre-TCR, and Tal1 in T-cell development and leukemogenesis. (PubMed id 16368887)9 Talora C....Screpanti I. (2006)
    301. Skin biopsy findings and results of neuropsychologica l testing in the first confirmed cases of CADASIL in Norway. (PubMed id 16643313)9 Rein Gustavsen W....Schlosser A. (2006)
    302. The genetic studies of dementias in Taiwan. (PubMed id 16599291)9 Chen H.H. and Hu C.J. (2006)
    303. Unexpected features of acute T lymphoblastic lymphomas in Notch1IC transgenic rats. (PubMed id 16838279)9 van den Brandt J....Reichardt H.M. (2006)
    304. Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. (PubMed id 17008614)9 Opherk C....Dichgans M. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4854 HGNC: 7883 AceView: NOTCH3 Ensembl:ENSG00000074181 euGenes: HUgn4854
    ECgene: NOTCH3 Kegg: 4854 H-InvDB: NOTCH3

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    PharmGKB entry for NOTCH3 Pharmacogenomics, SNPs, Pathways
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