Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group 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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group 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
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Vascular smooth muscle cells (SMCs) undergo a series of dramatic changes in CADASIL, the most common inherited cause of vascular dementia and stroke. 29931596 2018
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group BEFREE Mild hypothermia inhibits the Notch 3 and Notch 4 activation and seizure after stroke in the rat model. 29754932 2018
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE The consequence of an unpaired cysteine residue in an EGFr domain is an increased multimerization tendency of mutant NOTCH3, leading to toxic accumulation of the protein in the (cerebro)vasculature, and ultimately reduced cerebral blood flow, recurrent stroke and vascular dementia. 26912635 2016
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Mutations in NOTCH 3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a neurological disorder characterized by stroke, and vascular cognitive impairment and dementia. 27174004 2016
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE We found no association between the APOE genotypes, AGT polymorphism, NOTCH3 polymorphism and earlier first-ever stroke or migraine. 25819272 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Mutations in NOTCH3 cause cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common monogenic cause of stroke and vascular dementia. 25604251 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group BEFREE In this second patient, the radiological features were subtle and only the family history of stroke prompted testing for CADASIL using Notch3 genotyping. 24035425 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group BEFREE Clinicians should consider CADASIL in the differential diagnosis even in older patients with stroke. 24840674 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C. 21852154 2013
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the best understood cause of dominantly inherited stroke and results from NOTCH3 mutations that lead to NOTCH3 protein accumulation and selective arterial smooth muscle degeneration. 23028706 2012
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group BEFREE In CADASIL, migraine with aura is more frequent in women and stroke is more frequent in men before the age of menopause. 22033996 2012
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group BEFREE Also reviewed is recent progress in understanding single-gene disorders in which stroke is a major feature of the phenotype, including CADASIL, CARASIL, hereditary angiopathy with nephropathy, aneurysm and muscle cramps, and Fabry disease and progress in pharmacogenomics as it relates to response to antiplatelet therapy. 21058051 2011
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE To gain insight into how Notch 3 function is linked to CADASIL pathophysiology, we studied two phenotypically distinct mutations, C455R and R1031C, respectively associated with early and late onset of stroke, by using hemodynamic analyses in transgenic mouse models, receptor activity assays in cell culture, and proteomic examination of postmortem human tissue. 21555590 2011
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Some features were significantly (Fisher exact test p < 0.05) more frequent in CADASIL than in NOTCH3-negative patients: history of migraine (73 vs 39%), stroke before the age of 60 among relatives (71 vs 32%), severe leukoencephalopathy (94 vs 62%), white matter changes extended to the anterior temporal lobes (93 vs 45%), external capsule involvement (100 vs 50%), and presence of lacunar infarcts (100 vs 65%). 20038773 2010
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke, cognitive decline, psychiatric disturbances and migraine. 21038489 2010
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE The patient experienced a young onset familial stroke with an 856T>G missense mutation in exon 5 of the NOTCH3 gene resulting in a C260G mutation in the sixth epidermal growth factor-like repeat. 19683925 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 Biomarker group GENOMICS_ENGLAND Cysteine-sparing notch3 mutations: cadasil or cadasil variants? 19528524 2009
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Mutations in the Notch3 gene are the cause of CADASIL, a hereditary small vessel disease leading to stroke and vascular dementia. 18537053 2008
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE We report for the first time a mutation (c.3471C>G) on exon 21 of the NOTCH3 gene that leads to a cysteine substitution (p.1131C>W) in the EGF-like repeat 29 of the NOTCH3 receptor extracellular domain, and that is responsible for CADASIL in a functionally independent elderly man who came to our attention at the age of 79 because of a minor stroke. 18022198 2008
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Notch signaling is critically important for proper architecture of the vascular system, and mutations in NOTCH3 are associated with CADASIL, a stroke and dementia syndrome with vascular smooth muscle cell (VSMC) dysfunction. 18483410 2008
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is caused by mutations in the NOTCH3 gene and is clinically characterized by recurrent stroke and cognitive decline. 17272761 2007
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Thirty-eight CADASIL patients (19 to 61 years old; 20 in a prestroke group, 15 in a stroke group, and 3 in a dementia group), all with the R133C NOTCH3 mutation and including one homozygous patient, underwent a detailed ophthalmologic examination. 16877080 2006
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.500 GeneticVariation group BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), due to mutations in the Notch 3 gene, is the best example of monogenic pathology leading to stroke. 16833024 2006