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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2017
Assuntos:
Research Article
Acesso em linha: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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