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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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
Idioma:Inglês
Publicado em: 2017
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados