Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
Classification
Osteogenesis imperfecta
Pathogenic mechanism
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
09 08 2023
09 08 2023
Historique:
received:
07
06
2023
accepted:
31
07
2023
medline:
11
8
2023
pubmed:
10
8
2023
entrez:
9
8
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37559063
doi: 10.1186/s13023-023-02849-5
pii: 10.1186/s13023-023-02849-5
pmc: PMC10411007
doi:
Substances chimiques
Collagen Type I
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
234Informations de copyright
© 2023. Institut National de la Santé et de la Recherche Médicale (INSERM).
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