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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
CADASIL Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified 2 NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients.
|
31212292 |
2019 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
CADASIL Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family.
|
30545719 |
2019 |
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 |
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 |