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...

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Опубликовано в: :J Clin Invest
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2017
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Research Article
Online-ссылка: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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