Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
- 10 May 2013
- journal article
- case report
- Published by Elsevier BV in International Journal of Cardiology
- Vol. 165 (2), 314-321
- https://doi.org/10.1016/j.ijcard.2011.08.079
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutationsHuman Mutation, 2011
- Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissectionsEuropean Journal of Human Genetics, 2011
- Mutations in Myosin Light Chain Kinase Cause Familial Aortic DissectionsAmerican Journal of Human Genetics, 2010
- De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunctionAmerican Journal of Medical Genetics Part A, 2010
- Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiencyEuropean Journal of Human Genetics, 2010
- Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic DiseaseAmerican Journal of Human Genetics, 2009
- Fibrillin Assembly Requires FibronectinMolecular Biology of the Cell, 2009
- Hemiarthroplasty or internal fixation for intracapsular displaced femoral neck fractures: randomised controlled trialBMJ, 2007
- MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin IIHuman Molecular Genetics, 2007
- Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan SyndromeScience, 2006