Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization

Shprintzen–Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys–Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped to t...

Full description

Bibliographic Details
Main Authors: Ilaria Gori, Roger George, Andrew G Purkiss, Stephanie Strohbuecker, Rebecca A Randall, Roksana Ogrodowicz, Virginie Carmignac, Laurence Faivre, Dhira Joshi, Svend Kjær, Caroline S Hill
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-01-01
Series:eLife
Subjects:
Shprintzen-Goldberg syndrome
SKI
TGF-β
Activin
SMAD
Marfan syndrome
Online Access:https://elifesciences.org/articles/63545

Internet

https://elifesciences.org/articles/63545

Similar Items