Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

BACKGROUND: Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes. METHODS AND RESULTS: Consistent with previous reports, we found...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuk, Elena, Hicks, John, Polishchuk, Roman, Bacino, Carlos A., Brunetti‐Pierri, Nicola
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732269/
https://ncbi.nlm.nih.gov/pubmed/31350823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.844
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker