A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

A mutation inTGFB3associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome

(2013) Hugh Young Rienhoff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The paradoxical TGF-β vasculopathies

(2012) Rosemary J. Akhurst   NATURE GENETICS

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

(2012) Mark E Lindsay et al.   NATURE GENETICS

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

(2012) Catherine Boileau et al.   NATURE GENETICS

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Lessons on the pathogenesis of aneurysm from heritable conditions

(2011) Mark E. Lindsay et al.   NATURE

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

(2010) Sakiko Inamoto et al.   CARDIOVASCULAR RESEARCH

Conditional inactivation of TGF-β type II receptor in smooth muscle cells and epicardium causes lethal aortic and cardiac defects

(2010) Dominique Langlois et al.   TRANSGENIC RESEARCH

Signaling by members of the TGF-β family in vascular morphogenesis and disease

(2010) Evangelia Pardali et al.   TRENDS IN CELL BIOLOGY

The regulation of TGF  signal transduction

(2009) A. Moustakas et al.   DEVELOPMENT

The mammalian nonsense-mediated mRNA decay pathway: To decay or not to decay! Which players make the decision?

(2009) Ana Luísa Silva et al.   FEBS LETTERS

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway

(2009) Delphine Gomez et al.   JOURNAL OF PATHOLOGY

Sequencing of TGF-β Pathway Genes in Familial Cases of Intracranial Aneurysm

(2009) Teresa Santiago-Sim et al.   STROKE

Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction

(2008) Dianna M. Milewicz et al.   Annual Review of Genomics and Human Genetics