Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NOTCH3 variants and risk of ischemic stroke.

PloS one - 1 Jan 2013

Ross Owen A, Soto-Ortolaza Alexandra I, Heckman Michael G, Verbeeck Christophe, Serie Daniel J, Rayaprolu Sruti, Rich Stephen S, Nalls Michael A, Singleton Andrew, Guerreiro Rita, Kinsella Emma, Wszolek Zbigniew K, Brott Thomas G, Brown Robert D, Worrall Bradford B, Meschia James F

Abstract excerpt

BACKGROUND: Mutations within the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL mutations appear to be restricted to the first twenty-four exons, resulting in the gain or loss of a cysteine amino acid. The role of other exonic NOTCH3 variation not involving cysteine residues and mutations in exons 25-33 in ischemic stroke remains...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Brain Ischemia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Case-Control Studies

Share to Models, Genetic

Share to Receptor, Notch3

Share to Receptors, Notch

Share to Stroke

Share to White People

Source

Open in PubMed Open full text

Identifiers

PMID: 24086431
DOI: 10.1371/journal.pone.0075035
PMCID: PMC3781028

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NOTCH3 variants and risk of ischemic stroke.PMID 24086431Read ↗

NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.Semantic proximity Read ↗

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.Semantic proximity Read ↗

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL PatientsSemantic proximity Read ↗

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Semantic proximity Read ↗

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.Semantic proximity Read ↗

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL.Semantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population.Semantic proximity Read ↗

Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.Semantic proximity Read ↗

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.Semantic proximity Read ↗

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.