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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Biochemistry and Chemical Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7834018/
https://www.ncbi.nlm.nih.gov/pubmed/33416497
http://dx.doi.org/10.7554/eLife.63545

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