Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

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-li...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Lim, Pei Jin, Marfurt, Severin, Lindert, Uschi, Opitz, Lennart, Ndarugendamwo, Timothée, Srikanthan, Pakeerathan, Poms, Martin, Hersberger, Martin, Langhans, Claus-Dieter, Haas, Dorothea, Rohrbach, Marianne, Giunta, Cecilia
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8176293/
https://ncbi.nlm.nih.gov/pubmed/34093655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.662751
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