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

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

Graphical Abstract 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 extracellula...

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Main Authors: Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg
Format: Article
Language:English
Published: Springer Nature 2023-06-01
Series:EMBO Molecular Medicine
Online Access:https://doi.org/10.15252/emmm.202317528
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https://doi.org/10.15252/emmm.202317528

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