Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta (OI). BS is caused by bi-allelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hyd...

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Библиографические подробности
Опубликовано в: :J Bone Miner Res
Главные авторы: Gistelinck, Charlotte, Witten, Paul Eckhard, Huysseune, Ann, Symoens, Sofie, Malfait, Fransiska, Larionova, Daria, Simoens, Pascal, Dierick, Manuel, Van Hoorebeke, Luc, De Paepe, Anne, Kwon, Ronald Y, Weis, MaryAnn, Eyre, David R, Willaert, Andy, Coucke, Paul J
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5364950/
https://ncbi.nlm.nih.gov/pubmed/27541483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2977
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