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Article

Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL.

CNS & neurological disorders drug targets - 1 Jan 2017

Hou Xiaoxia, He Chuan, Jin Qingwen, Niu Qi, Ren Guang, Cheng Hong

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results from NOTCH3 gene mutations, which lead to the degeneration of vascular smooth muscle cells (VSMCs). The clinical presentation of CADASIL patients is dependent on the impact of other vascular risk factors and the type of NOTCH3 mutation present. METHODS: Here, we report a rare pathogenic...

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Source

Identifiers

PMID: 27781952
DOI: 10.2174/1871527315666161024125952

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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