Ontology highlight
ABSTRACT:
SUBMITTER: Gori I
PROVIDER: S-EPMC7834018 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Gori Ilaria I George Roger R Purkiss Andrew G AG Strohbuecker Stephanie S Randall Rebecca A RA Ogrodowicz Roksana R Carmignac Virginie V Faivre Laurence L Joshi Dhira D Kjær Svend S Hill Caroline S CS
eLife 20210108
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 ligand stimulation. The molecular consequences of these mutations, however, are not ...[more]