NOTCH3 Gene

Aliases
for NOTCH3 gene

Previous GC identifers: GC19M015649 GC19M015115 GC19M015131 GC19M014839

Summaries
for NOTCH3 gene

Genomic Views
for NOTCH3 gene

RefSeq DNA sequence:

NC_000019.9  NC_018930.1  NT_011295.11  

SwitchGear Promoter luciferase reporter plasmid: NOTCH3 promoter sequence

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

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


GeneLoc information about chromosome 19         GeneLoc Exon Structure

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

Proteins
for NOTCH3 gene

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

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	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 Protein Services for NOTCH3
	GenScript Custom Purified and Recombinant Proteins Services for NOTCH3
	Novus Biologicals NOTCH3 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for NOTCH3

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

	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
	Browse OriGene Antibodies OriGene Custom Antibody Services for NOTCH3
	GenScript Custom Superior Antibodies Services for NOTCH3
	Novus Biologicals NOTCH3 Antibodies
	Abcam antibodies for NOTCH3
	Uscn Antibodies for NOTCH3
	ThermoFisher Antibodies for NOTCH3

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for NOTCH3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for NOTCH3

Protein Domains /
Families
for NOTCH3 gene

ProtoNet protein and cluster: Q9UM47

Function
for NOTCH3 gene

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

15/20 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Notch3)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NOTCH3

miRNA Products:		miRTarBase miRNAs that target NOTCH3: hsa-mir-206 (MIRT000665)
		OriGene 3'-UTR Clone: NOTCH3 Browse MicroRNA Expression Plasmids
		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 plasmid: NOTCH3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NOTCH3 (see all 7) OriGene shRNA RFP: NOTCH3 OriGene siRNA: NOTCH3
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		Sirion Biotech Custom design and validation of potent shRNA sequences against NOTCH3

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for NOTCH3
			Sirion Biotech Customized adenovirus for potent knockdown of NOTCH3

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 NOTCH3 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NOTCH3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: NOTCH3 (NM_000435)
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOTCH3

Pathways & Interactions
for NOTCH3 gene

	Super-pathway	contained gene-specific pathways
1	Mature NOTCH heterodimer traffics to the plasma membrane	Mature NOTCH heterodimer traffics to the plasma membrane 1.00 A third proteolytic cleavage releases NICD 0.44 Transport of fringe-modified NOTCH to plasma membrane 1.00 NICD traffics to nucleus 0.31 Transport of NOTCH precursor to Golgi 1.00 Notch-HLH transcription pathway 0.31 Pre-NOTCH Processing in the Endoplasmic Reticulum 0.67
2	Notch Signaling Pathway	Notch Signaling Pathway 1.00 Delta-Notch Signaling Pathway 0.27 Notch signaling pathway 0.82
3	Generic Transcription Pathway	Generic Transcription Pathway 1.00 Gene Expression 0.46
4	Pre-NOTCH Processing in Golgi	Pre-NOTCH Processing in Golgi 1.00 Pre-NOTCH Expression and Processing 0.55
5	Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	Signaling by NOTCH 0.77 Notch Signaling 0.23

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

5/17        Reactome Pathways for NOTCH3

	Pre-NOTCH Expression and Processing
	A third proteolytic cleavage releases NICD
	Notch-HLH transcription pathway
	NOTCH3 mRNA translation controlled by miRNAs
	Signal Transduction

2         Kegg Pathways  (Kegg details for NOTCH3)

	Dorso-ventral axis formation
	Notch signaling pathway

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

Drugs & Compounds
for NOTCH3 gene

Transcripts
for NOTCH3 gene

Expression
for NOTCH3 gene

NOTCH3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGAATAGA

About this image

NOTCH3 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

10/45 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 45)
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EndotheliumVeinsVascular Smooth Muscle Cells			Smooth Muscle
	HeartAortic Arch ArteriesVascular Smooth Muscle Cells			Myocardium, Neural Crest, Smooth Muscle
	HeartEndocardiumVascular Smooth Muscle Cells			Smooth Muscle
	KidneyAfferent ArterioleJuxtaglomerular Cells			Kidney, Smooth Muscle
	LimbForelimb Dorsal MusclesMononuclear Myocytes			Skeletal Muscle
	LimbForelimb Dorsal MusclesMyoblasts			Skeletal Muscle
	LimbForelimb Ventral MusclesMononuclear Myocytes			Skeletal Muscle
	LimbForelimb Ventral MusclesMyoblasts			Skeletal Muscle
	LimbHindlimb Dorsal MuscleMononuclear Myocytes			Skeletal Muscle
	LimbHindlimb Dorsal MuscleMyoblasts			Skeletal Muscle
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)			Adipose, Bone, Cartilage

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NOTCH3 Browse OriGene validated miRNA SYBR primer pairs
		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
for NOTCH3 gene

Paralogs
for NOTCH3 gene

Paralogs for NOTCH3 gene

NOTCH4²  SNED1²  NOTCH1²  DLL3²  DLL4²  JAG2²  CRB2²  NOTCH2²  

JAG1²  DNER²  CRB1²  DLL1²  

18 SIMAP similar genes for NOTCH3 using alignment to 5 protein entries:     NOTC3_HUMAN (see all proteins):

SLIT2    ACAN    F9 p22    factor IX F9    NOTCH2    CRB1

SVEP1    SLIT3    F9    SNED1    FBLN7    DLK2

NOTCH1    VCAN    JAG1    EYS    CUBN    NCAN

NOTCH3 for paralogs           About GeneDecksing

Genomic Variants
for NOTCH3 gene

10/917 NCBI SNPs in NOTCH3 are shown (see all 917)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs289336981,2	C	pathogenic	15299815(-)	TCACCT/CGTATC	2	/R /C	mis1 ese3		2		NA	4
rs289336971,2	C	pathogenic	15302906(-)	CCTTCC/TGCTGC	2	R C	mis1 ese3		2		NA	4
rs289336961,2	C	pathogenic	15302945(-)	CCTGCC/TGCCAT	2	R C	mis1 ese3		2		NA	4
rs357699761,2	C,F	unknown	15291576(-)	CTGGGG/CCCTAT	2	/P /A	mis1		11		NA WA EU	5179
rs1380929381,2	C	other	15289677(+)	GACCCG/AGGCTA	2	/P /L	mis1		1		NA	3818
rs1912832271,2		--	15270003(+)	ACTCAA/CTTAAC	1	--	ds5001		0	--	--	--	--
rs1838637211,2		--	15270035(+)	GAGCCA/GAGATA	1	--	ds5001		0	--	--	--	--
rs48090261,2	C,F,A	--	15270059(+)	TCAAGG/CAGCCA	1	--	ds5001		9		NA CSA WA EA	369
rs1391555221,2		--	15270149(+)	TCGAAC/TTGGCC	1	--	ds5001		0	--	--	--	--
rs1499498001,2		--	15270232(+)	AGAAAA/GTTCTC	1	--	ds5001		0	--	--	--	--

HapMap Linkage Disequilibrium report for NOTCH3 (15270444 - 15311792 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for NOTCH3
     1 CNV: 47932
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

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NOTCH3

DNA2.0 Custom Variant and Variant Library Synthesis for NOTCH3

Disorders / Diseases
for NOTCH3 gene

20/54 diseases for NOTCH3

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

Publications
for NOTCH3 gene

PubMed articles for NOTCH3 gene, integrated from 9 sources (see all 337) (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. 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)
3. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. (PubMed id 9388399)^{1, 2, 9} Joutel A.... Tournier-Lasserve E. (1997)
4. Notch3 gene polymorphism and ischaemic cerebrovascular disease. (PubMed id 11861701)^{1, 4, 9} Ito D....Fukuuchi Y. (2002)
5. 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)
6. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. (PubMed id 12511775)^{1, 4, 9} Dong Y....Markus H.S. (2003)
7. Lack of association between NOTCH3 gene polymorphism and cerebrovascular disease in Japanese patients. (PubMed id 12480758)^{1, 4, 9} Mizuno T....Nakajima K. (2002)
8. 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)
9. Conserved signal peptide of Notch3 inhibits interaction with proteasome. (PubMed id 17292860)^{1, 2} Zhang Y.... Wang M.M. (2007)
10. 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)
11. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
12. Detection of the founder effect in Finnish CADASIL families. (PubMed id 15378071)^{1, 2} Mykkanen K....Poyhonen M. (2004)
13. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)^{1, 2} Wu L.... Griffin J.D. (2002)
14. 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)
15. 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)
16. 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)
17. 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)
18. Human ligands of the Notch receptor. (PubMed id 10079256)^{1, 2} Gray G.E.... Artavanis-Tsakonas S. (1999)
19. 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)
20. An overview of Notch3 function in vascular smooth muscle cells. (PubMed id 17854869)^{1, 9} Wang T....Trump D. (2008)
21. 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)
22. CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene. (PubMed id 19006080)^{1, 9} Ungaro C....Quattrone A. (2008)
23. Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. (PubMed id 18273901)^{2, 9} Fouillade C.... Joutel A. (2008)
24. 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)
25. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. (PubMed id 19174371)^{1, 9} Tikka S....Kalimo H. (2009)
26. 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)
27. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. (PubMed id 17331978)^{1, 9} Monet M....Joutel A. (2007)
28. Investigating the association between Notch3 polymorphism and migraine. (PubMed id 16492242)^{1, 9} Borroni B....Padovani A. (2006)
29. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. (PubMed id 10712431)^{1, 9} Joutel A....Tournier-Lasserve E. (2000)
30. 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)
31. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. (PubMed id 19242647)^{1, 9} Lee Y.C....Soong B.W. (2009)
32. Lysosome-dependent degradation of Notch3. (PubMed id 19735738)^{1, 9} Jia L....Wang M.M. (2009)
33. Notch3: from subtle structural differences to functional diversity. (PubMed id 18758477)^{1, 9} Bellavia D....Screpanti I. (2008)
34. 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)
35. Notch3 signaling promotes the development of pulmonar y arterial hypertension. (PubMed id 19855400)^{1, 9} Li X....Thistlethwaite P.A. (2009)
36. Investigation of the NOTCH3 and TNFSF7 Genes on C19p13 as Candidates for Migraine. (PubMed id 19018300)^{1, 9} Smith R.A....Griffiths L. (2008)
37. A new de novo Notch3 mutation causing CADASIL. (PubMed id 16796587)^{1, 9} Coto E....Alvarez V. (2006)
38. Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study. (PubMed id 16426270)^{1, 9} Schwaag S....Kuhlenbaumer G. (2006)
39. Functional analysis of a recurrent missense mutation in Notch3 in CADASIL. (PubMed id 16107360)^{1, 9} Haritunians T....Schanen C. (2005)
40. 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)
41. 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)
42. 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)
43. [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)
44. 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)
45. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. (PubMed id 11755616)^{2, 9} Joutel A.... Tournier-Lasserve E. (2001)
46. De novo mutation in the Notch3 gene causing CADASIL. (PubMed id 10716263)^{1, 9} Joutel A....Bousser M.G. (2000)
47. 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)
48. A novel heterozygous mutation in the NOTCH3 gene causing CADASIL. (PubMed id 18941948)^{1, 9} Andreadou E....Sfagos C. (2008)
49. Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. (PubMed id 19043263)^{1, 9} Mizuno T....Nakagawa M. (2008)
50. [Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia] (PubMed id 18075987)^{1, 9} Henao-Arboleda E....Lopera F. (2007)
51. Neuromuscular implications in CADASIL. (PubMed id 17878719)^{1, 9} Finsterer J. (2007)
52. Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). (PubMed id 17390743)^{1, 9} Kusaba T....Matsubara H. (2007)
53. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. (PubMed id 16807713)^{1, 9} Annunen-Rasila J.... Majamaa K. (2006)
54. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. (PubMed id 16717210)^{1, 9} Kim Y....Kim J.S. (2006)
55. 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)
56. 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)
57. Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation. (PubMed id 19372454)^{1, 9} MykkAonen K....Viitanen M. (2009)
58. 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)
59. 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)
60. 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)
61. 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)
62. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. (PubMed id 12146805)^{2, 9} Kalimo H.... Kalaria R.N. (2002)
63. 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)
64. Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. (PubMed id 20038773)^{1, 9} Pantoni L....Inzitari D. (2010)
65. NK-like homeodomain proteins activate NOTCH3-signalin g in leukemic T-cells. (PubMed id 19835636)^{1, 9} Nagel S....Macleod R.A. (2009)
66. MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study. (PubMed id 19139365)^{1, 9} Liem M.K....van der Grond J. (2009)
67. 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)
68. 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)
69. Evidence of Notch pathway activation in the ectatic ducts of chronic pancreatitis. (PubMed id 18069660)^{1, 9} Bhanot U....Moller P. (2008)
70. 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)
71. 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)
72. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. (PubMed id 11706120)^{1, 9} Dichgans M....Gasser T. (2001)
73. 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)
74. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. (PubMed id 10227618)^{2, 9} Dichgans M....Yousry T.A. (1999)
75. Notch3 overexpression as potential therapeutic target in advanced stage chemoresistant ovarian cancer. (PubMed id 23010708)¹ Rahman M.T....Miyazaki K. (2012)
76. Overexpression of the Notch3 receptor in non-functioni ng pituitary tumours. (PubMed id 22153798)¹ Miao Z....Lu X. (2012)
77. 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)
78. Notch-3 receptor activation drives inflammation and fi brosis following tubulointerstitial kidney injury. (PubMed id 22806125)¹ Djudjaj S....Mertens P.R. (2012)
79. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)¹ Yatim A....Benkirane M. (2012)
80. Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation. (PubMed id 22079340)¹ Ragno M....Trojano L. (2012)
81. 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)
82. Acetylation controls Notch3 stability and function in T-cell leukemia. (PubMed id 22120716)¹ Palermo R....Screpanti I. (2012)
83. 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)
84. 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)
85. Notch3 regulates the activation of hepatic stellate ce lls. (PubMed id 22493555)¹ Chen Y.X....Zhang S.L. (2012)
86. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL. (PubMed id 22367839)¹ Kim H.J....Kim S.H. (2012)
87. 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)
88. Modeling ductal carcinoma in situ: a HER2-Notch3 colla boration enables luminal filling. (PubMed id 21743488)¹ Pradeep C.R....Yarden Y. (2012)
89. 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)
90. Ultrastructural changes in cerebral capillary pericyte s in aged Notch3 mutant transgenic mice. (PubMed id 22292737)¹ Gu X....Zhao L.R. (2012)
91. Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models. (PubMed id 21702048)¹ Di Maio G....Federico A. (2012)
92. Transendocytosis is impaired in CADASIL-mutant NOTCH3. (PubMed id 22079830)¹ Watanabe-Hosomi A....Mizuno T. (2012)
93. The minimum prevalence of CADASIL in northeast England . (PubMed id 22422895)¹ Narayan S.K....Chinnery P.F. (2012)
94. CADASIL mutation and Balo concentric sclerosis: a link between demyelination and ischemia? (PubMed id 22218279)¹ Chitnis T. and Hollmann T.J. (2012)
95. 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)
96. 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)
97. 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)
98. 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)
99. Defining NOTCH3 target genes in ovarian cancer. (PubMed id 22396495)¹ Chen X....Wang T.L. (2012)
100. The genetics of white matter lesions. (PubMed id 21951372)¹ Assareh A....Sachdev P.S. (2011)
101. 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)
102. NOTCH3 gene mutations in subjects clinically suspected of CADASIL. (PubMed id 21616505)¹ Mosca L....Penco S. (2011)
103. Co-aggregate formation of CADASIL-mutant NOTCH3: a si ngle-particle analysis. (PubMed id 21628316)¹ Duering M....Opherk C. (2011)
104. Activation of Notch signaling in human tongue carcino ma. (PubMed id 20819128)¹ Zhang T.H....Liao G.Q. (2011)
105. CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. (PubMed id 21217157)¹ Bentley P....Sharma P. (2011)
106. Role of STRAP in regulating GSK3I^ function and Notch3 stabilization. (PubMed id 21502811)¹ Kashikar N.D....Datta P.K. (2011)
107. Notch3 activation promotes invasive glioma formation in a tissue site-specific manner. (PubMed id 21245095)¹ Pierfelice T.J....Eberhart C.G. (2011)
108. 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)
109. 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)
110. 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)
111. 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)
112. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. (PubMed id 20935329)¹ Wang Z....Wu S. (2011)
113. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
114. 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)
115. 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)
116. 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)
117. Expression patterns of Notch receptors and their liga nds Jagged and Delta in human placenta. (PubMed id 21726900)¹ Herr F....Zygmunt M. (2011)
118. 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)
119. Association analysis of Notch pathway signalling gene s in diabetic nephropathy. (PubMed id 21103979)¹ Kavanagh D....Savage D.A. (2011)
120. 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)
121. p.Arg332Cys mutation of NOTCH3 gene in two unrelated J apanese families with CADASIL. (PubMed id 22082899)¹ Sano Y....Kanda T. (2011)
122. 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)
123. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)¹ Vinayagam A....Wanker E.E. (2011)
124. 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)
125. 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)
126. 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)
127. 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)
128. 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)
129. Notch3 is critical for proper angiogenesis and mural cell investment. (PubMed id 20689064)¹ Liu H....Lilly B. (2010)
130. Prognostic significance of Notch 3 gene expression in ovarian serous carcinoma. (PubMed id 20624166)¹ Jung S.G....An H.J. (2010)
131. 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 Adib-Samii P....Markus H.S. (2010)
132. 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)
133. 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)
134. 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 Jugessur A....Murray J.C. (2010)
135. Detection of Notch signaling molecules in cemento-oss ifying fibroma of the jaws. (PubMed id 20040020)¹ Zhang T.H....Zheng G.S. (2010)
136. 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)
137. Genetically confirmed CADASIL in a pediatric patient. (PubMed id 21078731)¹ Cleves C....Hussain M.S. (2010)
138. Aberrant expression of Notch signaling molecules in p atients with immune thrombocytopenic purpura. (PubMed id 19603167)¹ Ma D....Hou M. (2010)
139. 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)
140. Association of a Notch 3 gene polymorphism with migra ine susceptibility. (PubMed id 20813781)¹ Menon S....Griffiths L.R. (2010)
141. 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)
142. 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 Johnatty S.E.... . (2010)
143. 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)
144. 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)
145. NOTCH1 and NOTCH3 coordinate esophageal squamous diff erentiation through a CSL-dependent transcriptional network. (PubMed id 20801121)¹ Ohashi S....Nakagawa H. (2010)
146. 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)
147. 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)
148. 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)
149. 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)
150. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)¹ GregA^rio S.P....Dias-Neto E. (2009)
151. Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. (PubMed id 19056668)¹ Liguori M....Quattrone A. (2009)
152. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
153. 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)
154. A case report about CADASlL: mutation in the NOTCH 3 receptor. (PubMed id 20329594)¹ Delibas S....Comoglu S.S. (2009)
155. Expression and clinical significance of Notch receptors in human renal cell carcinoma. (PubMed id 19404845)¹ Sun S....Fan D. (2009)
156. [Periodontal disease as an early clinical sign of cer ebral autosomal dominant arteriopathy with subcortical infarcts and leukoenceph alopathy (CADASIL)] (PubMed id 19859875)¹ Luna-Maldonado E....Lopera F. (2009)
157. 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)
158. 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)
159. CADASIL mutations enhance spontaneous multimerization of NOTCH3. (PubMed id 19417009)¹ Opherk C....Dichgans M. (2009)
160. 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)
161. Jagged-1 and Notch3 juxtacrine loop regulates ovarian tumor growth and adhesion. (PubMed id 18632624)¹ Choi J.H....Wang T.L. (2008)
162. Deregulated expression of Notch receptors in human hepatocellular carcinoma. (PubMed id 17920003)¹ Gao J....Fan D. (2008)
163. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Arabs. (PubMed id 18626519)¹ Bohlega S.A. and Abu-Amero K.K. (2008)
164. Cysteine-sparing notch3 mutations: cadasil or cadasil variants? (PubMed id 18765654)¹ Scheid R....Froster U.G. (2008)
165. 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)
166. 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)
167. CADASIL in Arabs: clinical and genetic findings. (PubMed id 17996090)¹ Bohlega S....Abu-Amero K.K. (2007)
168. 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)
169. Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers. (PubMed id 17804716)¹ Konishi J....Dang T.P. (2007)
170. 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)
171. A study on Notch signaling in human breast cancer. (PubMed id 17822320)¹ Zang S....Guo D. (2007)
172. Notch3 activation modulates cell growth behaviour and cross-talk to Wnt/TCF signalling pathway. (PubMed id 17822871)¹ Wang T....Trump D. (2007)
173. p14ARF interacts with N-Myc and inhibits its transcriptional activity. (PubMed id 17289033)¹ Amente S....Majello B. (2007)
174. 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)
175. 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)
176. 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)
177. 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)
178. Aberrant Notch3 and Notch4 expression in human hepatocellular carcinoma. (PubMed id 17696940)¹ Gramantieri L....Bolondi L. (2007)
179. Impaired expression of Notch signaling genes in aged human skeletal muscle. (PubMed id 17301032)¹ Carey K.A....Cameron-Smith D. (2007)
180. 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)
181. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 16833034)¹ Guidetti D....Dotti M.T. (2006)
182. 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 Passos Gregorio S....Dias-Neto E. (2006)
183. 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)
184. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (PubMed id 15818833)² Soong B.W.... Lu Y.-C. (2005)
185. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. (PubMed id 15229130)² Singhal S.... Markus H.S. (2004)
186. 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)
187. Gene symbol: NOTCH3. Disease: CADASIL. (PubMed id 15300988)² Rojas-Marcos I.... Garcia-Lozano J.R. (2004)
188. 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)
189. [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)
190. 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)
191. 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)
192. Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL. (PubMed id 11810186)² Feuerhake F.... Dichgans M. (2002)
193. 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)
194. 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)
195. Murine notch homologs (N1-4) undergo presenilin-dependent proteolysis. (PubMed id 11518718)¹ Saxena M.T....Kopan R. (2001)
196. [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)
197. Physical interaction of Delta1, Jagged1, and Jagged2 with Notch1 and Notch3 receptors. (PubMed id 11006133)¹ Shimizu K....Hirai H. (2000)
198. Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. (PubMed id 11058919)² Grigg R....Griffiths L. (2000)
199. Neurogenic genes and vertebrate neurogenesis. (PubMed id 8794055)¹ Lewis J. (1996)
200. 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)
201. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. (PubMed id 8485581)¹ Tournier-Lasserve E....Maciazek J. (1993)
202. CADASIL (PubMed id 20301673)¹ Lesnik Oberstein S.A.J....Dichgans M. (1993)
203. Comparison of male and female kidney transplant survival rates. (PubMed id 4557798)¹ Beleil O.M....Terasaki P.I. (1972)
204. Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. (PubMed id 12756589)⁹ Lesnik Oberstein S.A....Haan J. (2003)
205. Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. (PubMed id 16256149)⁹ Kim Y....Yoo H.W. (2006)
206. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. (PubMed id 16871402)⁹ Ishiko A....Suzuki N. (2006)
207. Novel mutation of the Notch3 gene in a Japanese patient with CADASIL. (PubMed id 17389000)⁹ Oki K....Suzuki N. (2007)
208. 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)
209. CADASIL mutations impair Notch3 glycosylation by Fringe. (PubMed id 15857853)⁹ Arboleda-Velasquez J.F....Kosik K.S. (2005)
210. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. (PubMed id 15210536)⁹ Dotti M.T....Federico A. (2004)
211. [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)
212. 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)
213. [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)
214. [Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)] (PubMed id 19363995)⁹ Ueda M....Ando Y. (2009)
215. Notch3 and the Notch3-upregulated RNA-binding protein HuD regulate Ikaros alternative splicing. (PubMed id 17332745)⁹ Bellavia D....Screpanti I. (2007)
216. 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)
217. 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)
218. 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)
219. CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y). (PubMed id 16974063)⁹ Ishida C....Yamada M. (2006)
220. 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)
221. [Clinical, radiological, histopathological and genetic findings in a Danish 'CADASIL' family] (PubMed id 10766655)⁹ Binzer M.N....Stenager E. (2000)
222. 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)
223. 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)
224. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. (PubMed id 7783868)⁹ Chabriat H....Tehindrazanarivelo A. (1995)
225. 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)
226. 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)
227. 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)
228. A novel hereditary small vessel disease of the brain. (PubMed id 16404745)⁹ Verreault S....Chabriat H. (2006)
229. The spectrum of Notch3 mutations in 28 Italian CADASIL families. (PubMed id 15834039)⁹ Dotti M.T....Quattrone A. (2005)
230. Two Japanese CADASIL families with a R141C mutation in the Notch3 gene. (PubMed id 11757773)⁹ Murakami T....Abe K. (2001)
231. 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)
232. [CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy): clinical features and neuroimaging] (PubMed id 11261256)⁹ Chabriat H....Bousser M.G. (2000)
233. Notch signaling in pulmonary hypertension. (PubMed id 20204737)⁹ Thistlethwaite P.A....Zhang X. (2010)
234. 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)
235. Notch signaling and CADASIL. (PubMed id 19673359)⁹ Tang S.C....Yip P.K. (2009)
236. 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)
237. EWS-FLI1 suppresses NOTCH-activated p53 in Ewing's sarcoma. (PubMed id 18757425)⁹ Ban J....Kovar H. (2008)
238. 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)
239. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy. (PubMed id 17368936)⁹ Ungaro C....Mazzei R. (2007)
240. CADASIL-causing mutations do not alter Notch3 receptor processing and activation. (PubMed id 16791082)⁹ Low W.C....Kalaria R.N. (2006)
241. Cerebral autosomal dominant arteriopathy with subcort ical infarcts and leukoencephalopathy (CADASIL). (PubMed id 15876982)⁹ Lesnik Oberstein S.A. and Haan J. (2004)
242. 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)
243. Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. (PubMed id 11244211)⁹ Kotorii S....Tabira T. (2001)
244. CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy): an Australian perspective. (PubMed id 11535004)⁹ Chuah T.L....Lander C. (2001)
245. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. (PubMed id 10969905)⁹ Uyama E....Uchino M. (2000)
246. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. (PubMed id 10476042)⁹ Kalimo H....Winblad B. (1999)
247. 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)
248. [CADASIL] (PubMed id 19069156)⁹ Uchino M. (2008)
249. Amplicon profiles in ovarian serous carcinomas. (PubMed id 17351921)⁹ Nakayama K....Wang T.L. (2007)
250. Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL. (PubMed id 17272761)⁹ Liem M.K....Lesnik Oberstein S.A. (2007)
251. Varicose veins associated with CADASIL result from a novel mutation in the Notch3 gene. (PubMed id 16864835)⁹ Saiki S....Hirose G. (2006)
252. 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)
253. Incipient CADASIL. (PubMed id 12756134)⁹ Lesnik Oberstein S.A....Haan J. (2003)
254. Cerebral hemodynamics and white matter hyperintensiti es in CADASIL. (PubMed id 12771575)⁹ van den Boom R....van Buchem M.A. (2003)
255. Distinct and regulated expression of Notch receptors in hematopoietic lineages and during myeloid differentiation. (PubMed id 11745340)⁹ Jonsson J.I....Nilsson G. (2001)
256. [Two case reports of cerebral autosomal dominant arteriophaty with subcortical infarctions and leukoencephalopathy (CADASIL)] (PubMed id 11675581)⁹ Pellicano S....Terra L. (2001)
257. 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)
258. [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)
259. 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)
260. Migraine with aura and white matter abnormalities: Notch3 mutation. (PubMed id 10802804)⁹ Ceroni M....Carrera P. (2000)
261. 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)
262. [CADASIL: genetics and physiopathology] (PubMed id 11261257)⁹ Joutel A....Tournier-Lasserve E. (2000)
263. Acetazolamide improves cerebral hemodynamics in CADAS IL. (PubMed id 20227091)⁹ Huang L....Wang H. (2010)
264. Childhood-onset CADASIL: clinical, imaging, and neuro cognitive features. (PubMed id 20197270)⁹ Hartley J....Yoon G. (2010)
265. 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)
266. Evaluation of brain apoptosis in a CADASIL postmortem case. (PubMed id 19788051)⁹ Battisti C....Federico A. (2009)
267. Molecular genetics of migraine. (PubMed id 19455354)⁹ de Vries B....van den Maagdenberg A.M. (2009)
268. On the diagnosis of CADASIL. (PubMed id 19542611)⁹ Ampuero I....de YAcbenes J.G. (2009)
269. 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)
270. Magnetic resonance findings in leucodystrophies and M S. (PubMed id 19671368)⁹ Labauge P. (2009)
271. 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)
272. 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)
273. 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)
274. Cadasil. (PubMed id 19539236)⁹ Chabriat H....Bousser M.G. (2009)
275. Glycogene expression in conjunctiva of patients with dry eye: downregulation of Notch signaling. (PubMed id 19011014)⁹ Mantelli F....ArgA1eso P. (2009)
276. Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: a new disease entity? (PubMed id 17656057)⁹ Hirabayashi S....Arima K. (2008)
277. Enhanced L-arginine-induced vasoreactivity suggests endothelial dysfunction in CADASIL. (PubMed id 18537053)⁹ Peters N....Dichgans M. (2008)
278. 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)
279. NOTCH1 regulates osteoclastogenesis directly in osteoclast precursors and indirectly via osteoblast lineage cells. (PubMed id 18156632)⁹ Bai S....Teitelbaum S.L. (2008)
280. Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL. (PubMed id 17620550)⁹ Viswanathan A....Chabriat H. (2007)
281. Neuropsychiatric manifestations in CADASIL. (PubMed id 17726918)⁹ Chabriat H. and Bousser M.G. (2007)
282. Genetics of ischaemic stroke. (PubMed id 17239802)⁹ Dichgans M. (2007)
283. Notch and Ikaros: not only converging players in T cell leukemia. (PubMed id 18032925)⁹ Bellavia D....Screpanti I. (2007)
284. 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)
285. Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient. (PubMed id 17622327)⁹ Ihalainen S....Baumann M. (2007)
286. A novel CADASIL-causing mutation in a stroke patient. (PubMed id 17629811)⁹ Vikelis M....Karageorgiou C.E. (2007)
287. 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)
288. Cross talk among Notch3, pre-TCR, and Tal1 in T-cell development and leukemogenesis. (PubMed id 16368887)⁹ Talora C....Screpanti I. (2006)
289. 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)
290. The genetic studies of dementias in Taiwan. (PubMed id 16599291)⁹ Chen H.H. and Hu C.J. (2006)
291. Unexpected features of acute T lymphoblastic lymphomas in Notch1IC transgenic rats. (PubMed id 16838279)⁹ van den Brandt J....Reichardt H.M. (2006)
292. Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. (PubMed id 17008614)⁹ Opherk C....Dichgans M. (2006)
293. [Case of CADASIL showing spontaneous subcortical hemorrhage with a novel mutation of Notch3 gene] (PubMed id 17260807)⁹ Kotorii S....Shibuya N. (2006)
294. Genetic characteristics of dementia in Taiwan. (PubMed id 16995595)⁹ Chen H.H. and Hu C.J. (2006)
295. [CADASIL with minimal symptoms after 60 years] (PubMed id 17028543)⁹ Mourad A....Chabriat H. (2006)
296. Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. (PubMed id 16844717)⁹ Viswanathan A....Chabriat H. (2006)
297. Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study. (PubMed id 16514092)⁹ Cumurciuc R....Vahedi K. (2006)
298. Cortical neuronal apoptosis in CADASIL. (PubMed id 17008611)⁹ Viswanathan A....Chabriat H. (2006)
299. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. (PubMed id 16302168)⁹ Milunsky A....Pangalos C. (2005)
300. The spectrum of mutations for CADASIL diagnosis. (PubMed id 15995828)⁹ Federico A....Dotti M.T. (2005)
301. The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. (PubMed id 16263847)⁹ Peters N....Dichgans M. (2005)
302. Phox2B mutations and the Delta-Notch pathway in neuroblastoma. (PubMed id 16084642)⁹ van Limpt V....Versteeg R. (2005)
303. [A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch 3 gene] (PubMed id 15714997)⁹ Matsumoto H....Tsuji S. (2005)
304. Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study. (PubMed id 16269644)⁹ HoltmannspAPtter M....Dichgans M. (2005)

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