Article
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
International journal of cardiology - 10 May 2013
Renard Marjolijn, Callewaert Bert, Baetens Machteld, Campens Laurence, MacDermot Kay, Fryns Jean-Pierre, Bonduelle Maryse, Dietz Harry C, Gaspar Isabel Mendes, Cavaco Diogo, Stattin Eva-Lena, Schrander-Stumpel Constance, Coucke Paul, Loeys Bart, De Paepe Anne, De Backer Julie
Abstract excerpt
BACKGROUND: Thoracic aortic aneurysm/dissection (TAAD) is a common phenotype that may occur as an isolated manifestation or within the constellation of a defined syndrome. In contrast to syndromic TAAD, the elucidation of the genetic basis of isolated TAAD has only recently started. To date, defects have been found in genes encoding extracellular matrix proteins (fibrillin-1, FBN1; collagen type III alpha 1,...
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