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Article

Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects.

CNS neuroscience & therapeutics - 1 May 2018

Liu Xiao-Zhen, Zhang Qin, Jiang Qian, Bai Bao-Ling, Du Xiao-Juan, Wang Fang, Wu Li-Hua, Lu Xiao-Lin, Bao Yi-Hua, Li Hui-Li, Zhang Ting

Abstract excerpt

AIM: Neural tube defects (NTDs) are birth defects of the nervous system and are the second most frequent cause of birth defects worldwide. The etiology of NTDs is complicated and involves both genetic and environmental factors. CASP9 is an initiator caspase in the intrinsic apoptosis pathway, which in Casp9-/- mice has been shown to result in NTDs because of decreased apoptosis. The aim of this study was to...

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Identifiers

PMID: 29365368
DOI: 10.1111/cns.12797
PMCID: PMC6489964

Genes

CASP9

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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