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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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| Pubblicato in: | eLife |
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| Autori principali: | , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
eLife Sciences Publications, Ltd
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7834018/ https://ncbi.nlm.nih.gov/pubmed/33416497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.63545 |
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