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Article

Identification of a known mutation in Notch 3 in familiar CADASIL in China.

PloS one - 1 Jan 2012

Tan Zhen-Xuan, Li Fei-Feng, Qu You-Yang, Liu Ji, Liu Gui-Rong, Zhou Jin, Zhu Yu-Lan, Liu Shu-Lin

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to recurrent ischemic stroke and vascular dementia. Numerous mutations in the 23 exons of the NOTCH3 gene have been reported to cause CADASIL in Caucasian populations, but the full spectrum of genetic changes leading to this disease is yet to be known and, especially,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22623959
DOI: 10.1371/journal.pone.0036590
PMCID: PMC3356370

Genes

NOTCH3

Provenance

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Related research

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Research trail→

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Identification of a known mutation in Notch 3 in familiar CADASIL in China.PMID 22623959Read ↗

A Chinese CADASIL family with p.R578C mutation at exon 11 of the NOTCH3 gene.Semantic proximity Read ↗

A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.Semantic proximity Read ↗

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

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.Semantic proximity Read ↗

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

[NOTCH3 gene mutations in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].Semantic proximity Read ↗

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.Semantic proximity Read ↗

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

De novo mutation in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.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 ↗

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