NOTCH3 gene mutations in subjects clinically suspected of CADASIL
Journal of the Neurological Sciences, 2011 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported.
Enrico Grosso +2 more
exaly +5 more sources
Notch3 in Development, Health and Disease
Biomolecules, 2020 Notch3 is one of four mammalian Notch proteins, which act as signalling receptors to control cell fate in many developmental and adult tissue contexts.
Samira Hosseini-Alghaderi, Martin Baron
doaj +2 more sources
Investigation of the NOTCH3 and TNFSF7 Genes on C19p13 as Candidates for Migraine [PDF]
The Open Neurology Journal, 2008 To investigate the migraine locus around the C19p13 region through analysis of the NOTCH3 gene (C19p13.2-p13.1), previously shown to be a gene involved in CADASIL and the TNFSF7 gene (C19p13), homologous to the ligands of TNF-alpha and TNF-beta, genes that have previously been associated with migraine.
Smith, Robert +5 more
openaire +6 more sources
Association of NOTCH3 Gene Polymorphisms with Ischemic Stroke and Its Subtypes: A Meta-Analysis
Medicina, 2019 Background and objectives: NOTCH3 gene variations play a significant role in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Loo Keat Wei +3 more
doaj +2 more sources
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3. [PDF]
PLoS ONE, 2012 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 ...
He Meng +6 more
doaj +2 more sources
De novo mutation in the NOTCH3 gene causing CADASIL [PDF]
Biomolecules and Biomedicine, 2014 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a
Dragan Stojanov +6 more
openaire +5 more sources
Integrative analysis of single-cell RNA sequencing, bulk RNA sequencing, and proteomic data identified NOTCH3 as a hub gene contributing to human intervertebral disc fibrosis [PDF]
Scientific ReportsIntervertebral disc degeneration (IDD) is marked by nucleus pulposus (NP) fibrosis, but its molecular drivers remain unclear. This study investigated NP cellular heterogeneity and key regulators using integrative multi-omics.
Qi Ding +6 more
doaj +2 more sources
Four Novel Disease-Causing Variants in the <i>NOTCH3</i> Gene in Russian Patients with CADASIL. [PDF]
Genes (Basel), 2023 Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with unknown mechanisms and a broad phenotypic spectrum. It is caused by pathogenic variants in the NOTCH3 gene.
Bostanova F +9 more
europepmc +2 more sources
Chorea Associated with Notch3 Gene Mutation [PDF]
Movement Disorders Clinical PracticeKamran Rezaei +2 more
exaly +2 more sources
Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL
Frontiers in Neurology, 2022 This study aimed to evaluate the utility of immunohistochemical staining of vascular Notch3 deposits in biopsied unfixed frozen skin samples from patients with suspected cerebral autosomal dominant arteriopathy with subcortical infarcts and ...
Akihiko Ueda +8 more
doaj +1 more source