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Open Access 01-12-2023 | Osteogenesis Imperfecta | Review

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Authors: Hongjie Yu, Changrong Li, Huixiao Wu, Weibo Xia, Yanzhou Wang, Jiajun Zhao, Chao Xu

Published in: Orphanet Journal of Rare Diseases | Issue 1/2023

Abstract

Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack structure and scientific basis and have poor applicability. In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the perspectives of type I collagen defects(synthesis defects, processing defects, post-translational modification defects, folding and cross-linking defects), bone mineralization disorders, osteoblast differentiation and functional defects respectively, and also generalize several new untyped OI-causing genes and their pathogenic mechanisms, intending to provide the evidence of classification and a scientific basis for the precise diagnosis and treatment of OI.

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Title: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Authors: Hongjie Yu
Changrong Li
Huixiao Wu
Weibo Xia
Yanzhou Wang
Jiajun Zhao
Chao Xu
Publication date: 01-12-2023
Publisher: BioMed Central
Keyword: Osteogenesis Imperfecta
Published in: Orphanet Journal of Rare Diseases / Issue 1/2023
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-023-02849-5

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Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

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