Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.
TGF-β
fibrosis
losartan
pathogenesis
stiff skin syndrome
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
20 Jul 2020
20 Jul 2020
Historique:
received:
29
05
2020
revised:
16
07
2020
accepted:
17
07
2020
entrez:
24
7
2020
pubmed:
24
7
2020
medline:
20
2
2021
Statut:
epublish
Résumé
Transforming growth factor β (TGF-β) superfamily signaling pathways are ubiquitous and essential for several cellular and physiological processes. The overexpression of TGF-β results in excessive fibrosis in multiple human disorders. Among them, stiff skin syndrome (SSS) is an ultrarare and untreatable condition characterized by the progressive thickening and hardening of the dermis, and acquired joint limitations. SSS is distinct in a widespread form, caused by recurrent germline variants of
Identifiants
pubmed: 32698527
pii: ijms21145141
doi: 10.3390/ijms21145141
pmc: PMC7404389
pii:
doi:
Substances chimiques
Transforming Growth Factor beta
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero della Salute
ID : Ricerca corrente 2018-2019
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