SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

(2015) Aida M. Bertoli-Avella et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

De novo mutation of the latency-associated peptide domain ofTGFB3in a patient with overgrowth and Loeys-Dietz syndrome features

(2014) Gabor Matyas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

(2014) Mélodie Aubart et al.   PLoS One

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

(2013) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Modifications of Chromatin Dynamics Control Smad2 Pathway Activation in Aneurysmal Smooth Muscle Cells

(2013) Delphine Gomez et al.   CIRCULATION RESEARCH

Forgetting to Switch Off SMAD2 in Aneurysmal Disease

(2013) Amy Leung et al.   CIRCULATION RESEARCH

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

(2012) Virginie Carmignac et al.   AMERICAN JOURNAL OF HUMAN 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

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

(2012) Alexander J Doyle et al.   NATURE GENETICS

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

(2011) Ingrid M B H van de Laar et al.   JOURNAL OF MEDICAL GENETICS

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

(2011) Carine Le Goff et al.   NATURE GENETICS

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

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

(2010) Sakiko Inamoto et al.   CARDIOVASCULAR RESEARCH

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

(2009) Delphine Gomez et al.   JOURNAL OF PATHOLOGY