Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked
MBTPS2
X-linked osteogenesis imperfecta
connective tissue
site 2 protease
transcriptomics
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
01
02
2021
accepted:
26
04
2021
entrez:
7
6
2021
pubmed:
8
6
2021
medline:
8
6
2021
Statut:
epublish
Résumé
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone development. In 2016, we described the first X-linked recessive form of OI caused by hemizygous
Identifiants
pubmed: 34093655
doi: 10.3389/fgene.2021.662751
pmc: PMC8176293
doi:
Types de publication
Journal Article
Langues
eng
Pagination
662751Informations de copyright
Copyright © 2021 Lim, Marfurt, Lindert, Opitz, Ndarugendamwo, Srikanthan, Poms, Hersberger, Langhans, Haas, Rohrbach and Giunta.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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