NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family. 31813735 2020
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE In summary, we report a novel pathogenic mutation (NOTCH3 c.598_610delinsAGAACCC; p.Pro200_Ser204delinsArgThrPro) associated with CADASIL. 31699577 2020
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE NOTCH3 mutations are responsible for the most common form of hereditary stroke, the progressive disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 31502763 2020
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Our study here identified G73A as a new mutation in NOTCH3 to cause CADASIL and revealed that the G73A mutation and two known mutants R75P and R133C decreased NOTCH3 protein turnover and induced cell death. 31720972 2020
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is caused by mutations in the <i>NOTCH3</i> gene which maps to the short arm of chromosome 19 and encodes the NOTCH3 receptor protein, predominantly expressed in adults by vascular smooth muscle cells and pericytes. 31324668 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 Biomarker disease BEFREE Except for isolated cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy or CADASIL, hereditary arteriopathies have so far not been reported in Africa. 29807146 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Twenty-nine individuals (mean age: 54.1 years old) were included in the study; five CADASIL NOTCH3 mutation carriers and twenty-five age-matched non-carriers. 30445028 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE We found that SVCI patients, regardless of the presence of NOTCH3 variants, showed significantly greater microstructural alterations (W-score, p < 0.05, FWE-corrected) and cortical thinning (W-score, p < 0.05, FDR-corrected) than typical CADASIL patients. 30692550 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 Biomarker disease BEFREE Aberrant vascular responses and signaling in CADASIL were ameliorated by inhibitors of Notch3 (γ-secretase inhibitor), Nox5 (mellitin), ER stress (4-phenylbutyric acid), and ROCK (fasudil). 31647781 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 Biomarker disease BEFREE We modified the CADASIL scale reported by Pescini et al based on clinical features of 126 CADASIL patients and 53 NOTCH3-negative CADASIL-like patients diagnosed up until March 2016 (Phase 1). 30956055 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the vascular accumulation of NOTCH3 around smooth muscle cells and pericytes. 31753008 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE We identified 2 NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. 31212292 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral white matter changes observed by MRI are a key CADASIL characteristic in young adult patients often before severe symptoms and trigger NOTCH3 genetic testing. 30855338 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Here, we generated non-integrative induced pluripotent stem cells (iPSCs) from fibroblasts of a CADASIL patient harboring a heterozygous NOTCH3 mutation (c.3226C>T, p.R1076C). 30778920 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE NOTCH2 mutations lead to the development of Alagille syndrome, while mutations in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 29767458 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare monogenic disorder caused by mutations in the NOTCH3 gene. 31488796 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE We present a case of a 28-year-old woman who began treatment for MS and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation. 31598433 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of genetic stroke and vascular dementia syndrome resulting from mutations in NOTCH3. 31680059 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE We studied a rare case of an infat boy diagnosed with both congenital PCD and CADASIL; congenital PCD was attributable to a compound that was homozygous for (A-G)-12 at the transcription initiation site in the promoter region of the PROC gene, and CADASIL was caused by missense mutation in exon 24 of NOTCH3. 30883460 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Molecular genetic testing identified a homozygous pathologic variant, c.1672C > T (p. Arg558Cys), in the NOTCH3 gene.The diagnosis of CADASIL was confirmed. 31146726 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. 30237574 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE NOTCH3 pathogenic variant position is the most important determinant of CADASIL disease severity, with EGFr 7-34 pathogenic variant predisposing to a later onset of stroke and longer survival. 30032161 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family. 30545719 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy with adult onset caused by a missense mutation in the NOTCH3 gene in chromosome 19p13. 30993645 2019
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
0.700 GeneticVariation disease BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular small-vessel disease caused by Notch3 mutations and represents the most common form of hereditary stroke disorder. 29802397 2018