Article
Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.
Cell death & disease - 23 Nov 2020
Zhang Yuan, Chen Weicheng, Zeng Weijia, Lu Zhouping, Zhou Xiangyu
Abstract excerpt
Defective left-right (LR) organization involving abnormalities in cilia ultrastructure causes laterality disorders including situs inversus (SI) and heterotaxy (Htx) with the prevalence approximately 1/10,000 births. In this study, we describe two unrelated family trios with abnormal cardiac LR patterning. Through whole-exome sequencing (WES), we identified compound heterozygous mutations (c.805-1G >C; p....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.