Raya Al Maskari Yasmin S Cleary Nikki Figg Sarju Mehta Doris Rassl Ian Wilkinson Kevin M O'Shaughnessy
10.1038/ejhg.2016.143
Eur J Hum Genet
2016 Jan;25(1):157-160.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27782106/
Aortic Aneurysm / genetics Loeys-Dietz Syndrome / genetics Transforming Growth Factor beta1 / biosynthesis Transforming Growth Factor beta2 / genetics
Aortic Aneurysm / genetics Loeys-Dietz Syndrome / genetics Transforming Growth Factor beta1 / biosynthesis Transforming Growth Factor beta2 / genetics Case Reports Research Support, Non-U.S. Gov't Aortic Aneurysm / pathology Gene Expression Regulation Humans Loeys-Dietz Syndrome / pathology Male Middle Aged Mutation, Missense Pedigree Transforming Growth Factor beta1 / genetics Transforming Growth Factor beta2 / biosynthesis TGFB1 protein, human TGFB2 protein, human Transforming Growth Factor beta1 Transforming Growth Factor beta2
PMC5149071
27782106
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression
2016