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Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation

Summary: Collagen XII, belonging to the fibril-associated collagens, is a homotrimeric secreted extracellular matrix (ECM) protein encoded by the COL12A1 gene. Mutations in the human COL12A1 gene cause an Ehlers-Danlos/myopathy overlap syndrome leading to skeletal abnormalities and muscle weakness....

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Principais autores: Mengjie Zhu, Fabian Metzen, Mark Hopkinson, Janina Betz, Juliane Heilig, Jassi Sodhi, Thomas Imhof, Anja Niehoff, David E. Birk, Yayoi Izu, Marcus Krüger, Andrew A. Pitsillides, Janine Altmüller, Gerjo J.V.M. van Osch, Volker Straub, Gudrun Schreiber, Mats Paulsson, Manuel Koch, Bent Brachvogel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2023-07-01
coleção:iScience
Assuntos:
Health sciences
Biological sciences
Molecular biology
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2589004223013020
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