Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

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 performe...

詳細記述

保存先:
書誌詳細
出版年:J Clin Invest
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2017
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5373861/
https://ncbi.nlm.nih.gov/pubmed/28263186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90193
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