Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

(2016) Aline Verstraeten et al.   HUMAN MUTATION

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

(2015) Dorien Proost et al.   HUMAN MUTATION

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

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

(2014) Geert Vandeweyer et al.   Genome Medicine

Decreased Body Fat, Elevated Plasma Transforming Growth Factor-β Levels, and Impaired BMP4-Like Signaling in Biglycan-Deficient Mice

(2012) Tao Tang et al.   CONNECTIVE TISSUE RESEARCH

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

(2012) G. Zanni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

(2011) Geert Vandeweyer et al.   BMC BIOINFORMATICS

Deficiency of Biglycan Causes Cardiac Fibroblasts to Differentiate into a Myofibroblast Phenotype

(2011) Ariane Melchior-Becker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lessons on the pathogenesis of aneurysm from heritable conditions

(2011) Mark E. Lindsay et al.   NATURE

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

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

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

(2009) Delphine Gomez et al.   JOURNAL OF PATHOLOGY

Variation in the histopathological features of patients with ascending aortic aneurysms: a study of 111 surgically excised cases

(2007) M J Collins et al.   JOURNAL OF CLINICAL PATHOLOGY