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.
Chen, Xiaoli; An, Yu; Gao, Yonghui; Guo, Liu; Rui, Lei; Xie, Hua; Sun, Mei; Lam Hung, Siv; Sheng, Xiaoming; Zou, Jizhen; Bao, Yihua; Guan, Hongyan; Niu, Bo; Li, Zandong; Finnell, Richard H; Gusella, James F; Wu, Bai-Lin; Zhang, Ting.
; 38(4): 378-389, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27925688
Neural tube defects.
Formate rescues neural tube defects caused by mutations in <i>Slc25a32</i>.
Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect.
Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects.
A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees.
Lack of association between the methylenetetrahydropholate reductase gene A1298C polymorphism and neural tube defects in a Turkish study group.
Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population.