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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Hironori Hara, Norifumi Takeda, Takayuki Fujiwara, Hiroki Yagi, Sonoko Maemura, Tsubasa Kanaya, Kan Nawata, Hiroyuki Morita, Issei Komuro

ABSTRACT

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 in the aorta, despite the in vitro demonstration that the loss-of-function mutation lies within the serine/threonine kinase domain. The mechanism underlying this TGF-β paradox in LDS aortopathy should be further investigated. More... »

PAGES

6

Journal

TITLE

Human Genome Variation

ISSUE

1

VOLUME

6

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0038-x

DOI

http://dx.doi.org/10.1038/s41439-019-0038-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1111507566

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30701076


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