Mutations in the COPII Vesicle Component Gene SEC24B are Associated with Human Neural Tube Defects. Issue 8 (13th May 2013)

• Record Type: Journal Article
• Authors: Yang, Xue‐Yan; Zhou, Xiang‐Yu; Wang, Qing Qing; Li, Hong; Chen, Ying; Lei, Yun‐Ping; Ma, Xiao‐Hang; Kong, Pan; Shi, Yan; Jin, Li; Zhang, Ting; Wang, Hong‐Yan
• Is Part Of: Human mutation. Volume 34:Issue 8(2013:Aug.)
• Page Start: 1094
• Page End: 1101
• Publication Date: 2013-05-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22338
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22338-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, we re‐sequenced the coding region of <italic>SEC24B</italic> gene and identified four disease‐specific rare mutations in 163 Chinese NTDs cases that were absent in all controls. Functional analysis <italic>in vitro</italic> and <italic>in vivo</italic> demonstrated that they are all loss‐of‐function mutations. We propose that <italic>SEC24B</italic> mutations may contribute to a subset of human NTDs. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg2718nfc9" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>