Article
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
The Journal of clinical investigation - 3 Apr 2017
Egunsola Adetutu T, Bae Yangjin, Jiang Ming-Ming, Liu David S, Chen-Evenson Yuqing, Bertin Terry, Chen Shan, Lu James T, Nevarez Lisette, Magal Nurit, Raas-Rothschild Annick, Swindell Eric C, Cohn Daniel H, Gibbs Richard A, Campeau Philippe M, Shohat Mordechai, Lee Brendan H
Abstract excerpt
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation...
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