Rare deleterious PARD3 variants in the aPKC-binding region are implicated in the pathogenesis of human cranial neural tube defects via disrupting apical tight junction formation

Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial NTD susceptibility prompted us to hypothesize that rare variants of genes in the core apical–basal polarity (ABP) pathway are risk factors for cranial NTDs. In this study, we screened for rare genomic...

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Publicado en:Hum Mutat
Autores principales: Chen, Xiaoli, An, Yu, Gao, Yonghui, Guo, Liu, Rui, Lei, Xie, Hua, Sun, Mei, Hung, Siv Lam, Sheng, Xiaoming, Zou, Jizhen, Bao, Yihua, Guan, Hongyan, Niu, Bo, Li, Zandong, Finnell, Richard H., Gusella, James F., Wu, Bai-Lin, Zhang, Ting
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5513730/
https://ncbi.nlm.nih.gov/pubmed/27925688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23153
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