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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Principais autores: Hara, Hironori, Takeda, Norifumi, Fujiwara, Takayuki, Yagi, Hiroki, Maemura, Sonoko, Kanaya, Tsubasa, Nawata, Kan, Morita, Hiroyuki, Komuro, Issei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6338757/
https://ncbi.nlm.nih.gov/pubmed/30701076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0038-x
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