Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases

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• 作者：Xia Li^a ; ^b ; ¹ ; Shuai Shi^c ; ¹ ; Fei-Feng Li^a ; ^b ; ¹ ; ^{lff-1981@163.com} ; Rui Cheng^c ; Ying Han^c ; Li-Wei Diao^d ; Qiong Zhang^e ; Ji-Xin Zhi^c ; ^{Zhijixin23@163.com} ; Shu-Lin Liu^a ; ^b ; ^f ; ^{slliu@ucalgary.ca}
• 关键词：CHD ; congenital heart disease ; ASD ; atrial septal defect ; VSD ; ventricular septal defect ; STX18 ; syntaxin18 ; HES ; human embryonic stem ; LD ; linkage-disequilibrium
• 刊名：Gene
• 出版年：2017
• 出版时间：20 January 2017
• 年：2017
• 卷：598
• 期：Complete
• 页码：79-83
• 全文大小：370 K
• 卷排序：598

文摘

Many cell types are involved in the mammalian heart development, and any mistakes in the developmentprocess or in the cells may result in congenital heart malformations. Syntaxin18 (STX18) plays key roles in transporting vesicle membrane fusion with target compartments of cells and forms complexes with cell cycle-related proteins. In this work we found that variant rs12644497 near the 5’UTR and Exon1 of the STX18 gene was associated with the risk of CHD.