TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
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ABSTRACT:
SUBMITTER: Etich J
PROVIDER: S-EPMC10331569 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Publications
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.
Etich Julia J Semler Oliver O Stevenson Nicola L NL Stephan Alice A Besio Roberta R Garibaldi Nadia N Reintjes Nadine N Dafinger Claudia C Liebau Max Christoph MC Baumann Ulrich U Mörgelin Matthias M Forlino Antonella A Stephens David J DJ Netzer Christian C Zaucke Frank F Rehberg Mirko M
EMBO molecular medicine 20230609 7
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. ...[more]
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Project description:In this study, our objective is to broaden the understanding of the genetic and clinical characteristics of OI by investigating rare pathogenic variants (PVs) not only within the well-established COL1A1 and COL1A2, which are responsible for more than 85-90% of all cases but also in other genes involved in OI. To achieve this, we performed next-generation sequencing (NGS) analysis on OI patients from the Puglia Region in South Italy, a population with limited genetic data on OI
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