X
Xiao J
Publications - 1
Citations - 219
Xiao J is an academic researcher. The author has contributed to research in topics: Null allele. The author has an hindex of 1, co-authored 1 publications receiving 174 citations.
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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
Nan Wu,Ming X,Xiao J,Z. Wu,Xiaoli Chen,Marwan Shinawi,Shen Y,Yu G,Jiaqi Liu,Xie H,Zoran Gucev,S. B. Liu,Yang N,Hussam Al-Kateb,Chen J,Zhang J,Natalie Hauser,Zhang T,Tasic,Pengfei Liu,Su X,Xuedong Pan,Liu C,Lu Wang,Joseph J. Shen,Yi Chen,Kwong Wai Choy,Jian Wang,Quan Wang,Shu Li,Weichen Zhou,Jun Guo,Y. F. Wang,Zhang C,Zhao H,An Y,Ye Zhao,Z. A. Liu,Yuzhi Zuo,Tian Y,Weng X,Vernon R. Sutton,Hui Wang,Ming Y,Shashikant Kulkarni,Zhong Tp,Philip F. Giampietro,Sally L. Dunwoodie,Cheung Sw,Xue Zhang,Li Jin,Lupski,Guixing Qiu,Feng Zhang +53 more
TL;DR: Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of congenital scoliosis cases in the series that was analyzed, and in vitro functional assays suggested that the risk haplotype is a Hypomorphic allele.