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 in DDRGK domain containing 1 (
Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan H. Lee
Title and authors | Publication | Year |
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Targeting chondrocytes for arresting bony fusion in ankylosing spondylitis
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Zebrafish Models for Human Skeletal Disorders
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p53-mediated G1 arrest requires the induction of both p21 and Killin in human colon cancer cells
D Luo, C Yu, J Yu, C Su, S Li, P Liang |
Cell cycle (Georgetown, Tex.) | 2021 |