TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellular matrix changes to...

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Detalles Bibliográficos
Autores principales: Etich, Julia, Semler, Oliver, Stevenson, Nicola L, Stephan, Alice, Besio, Roberta, Garibaldi, Nadia, Reintjes, Nadine, Dafinger, Claudia, Liebau, Max Christoph, Baumann, Ulrich, Mörgelin, Matthias, Forlino, Antonella, Stephens, David J, Netzer, Christian, Zaucke, Frank, Rehberg, Mirko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331569/
https://www.ncbi.nlm.nih.gov/pubmed/37292039
http://dx.doi.org/10.15252/emmm.202317528
Descripción
Sumario:Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellular matrix changes to signaling regulation.[Image: see text]

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