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

Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice

(2012) Jun-ichi Iwata et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Noncanonical TGF  Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice

(2011) T. M. Holm et al.   SCIENCE

Angiotensin II Type 2 Receptor Signaling Attenuates Aortic Aneurysm in Mice Through ERK Antagonism

(2011) J. P. Habashi et al.   SCIENCE

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

(2010) Marjolijn Renard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

Histopathologic Findings in Ascending Aortas From Individuals With Loeys-Dietz Syndrome (LDS)

(2009) Joseph J. Maleszewski et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Circulating Transforming Growth Factor-β in Marfan Syndrome

(2009) Peter Matt et al.   CIRCULATION

The regulation of TGF  signal transduction

(2009) A. Moustakas et al.   DEVELOPMENT

Absence of TGFβ signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm

(2009) Bibha Choudhary et al.   GENESIS

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

(2009) Delphine Gomez et al.   JOURNAL OF PATHOLOGY