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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...
| Autores principales: | , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| 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 |
| _version_ | 1785070282257465344 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Etich, Julia |
| collection | PubMed |
| description | 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] |
| format | Online Article Text |
| id | pubmed-10331569 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-103315692023-07-11 TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta 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 EMBO Mol Med Correspondence 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] John Wiley and Sons Inc. 2023-06-09 /pmc/articles/PMC10331569/ /pubmed/37292039 http://dx.doi.org/10.15252/emmm.202317528 Text en © 2023 The Authors. Published under the terms of the CC BY 4.0 license https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Correspondence 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 TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title |
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_full |
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_fullStr |
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_full_unstemmed |
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_short |
TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta |
| title_sort | tapt1—at the crossroads of extracellular matrix and signaling in osteogenesis imperfecta |
| topic | Correspondence |
| url | 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 |
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