Article

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

2020-10-09

Abstract excerpt

<h4>ABSTRACT</h4> 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 the transcriptional corepressor SKI, which is a negative regulator of TGF-β signaling that is rapid...

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Literature Corpus work: d1b97f8a-63bc-5a57-84db-4ca3800e41ec
DOI: 10.1101/2020.10.07.330407

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