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Article

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

eLife - 8 Jan 2021

Gori Ilaria, George Roger, Purkiss Andrew G, Strohbuecker Stephanie, Randall Rebecca A, Ogrodowicz Roksana, Carmignac Virginie, Faivre Laurence, Joshi Dhira, Kjær Svend, Hill Caroline S

Abstract excerpt

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 co-repressor SKI, which is a negative regulator of TGF-β signaling that is rapidly degraded upon...

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Identifiers

PMID: 33416497
DOI: 10.7554/eLife.63545
PMCID: PMC7834018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.PMID 33416497Read ↗

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