Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1

Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and dissection. We report an LDS patient with a de novo missense variant of TGFBR1 [c.1126A>G, p.(Lys376Glu)] in which active TGF-β signaling was observed...

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Detalles Bibliográficos
Autores principales: Hara, Hironori, Takeda, Norifumi, Fujiwara, Takayuki, Yagi, Hiroki, Maemura, Sonoko, Kanaya, Tsubasa, Nawata, Kan, Morita, Hiroyuki, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338757/
https://www.ncbi.nlm.nih.gov/pubmed/30701076
http://dx.doi.org/10.1038/s41439-019-0038-x

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