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

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. Here, we...

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Detalles Bibliográficos
Autores principales: Zhu, Mengjie, Metzen, Fabian, Hopkinson, Mark, Betz, Janina, Heilig, Juliane, Sodhi, Jassi, Imhof, Thomas, Niehoff, Anja, Birk, David E., Izu, Yayoi, Krüger, Marcus, Pitsillides, Andrew A., Altmüller, Janine, van Osch, Gerjo J.V.M., Straub, Volker, Schreiber, Gudrun, Paulsson, Mats, Koch, Manuel, Brachvogel, Bent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362267/
https://www.ncbi.nlm.nih.gov/pubmed/37485359
http://dx.doi.org/10.1016/j.isci.2023.107225

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