A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms

(2017) Audrey Courtois et al.   European Journal of Medical Genetics

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

(2016) Jeffrey A. Schubert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders?

(2015) Bart L. Loeys   DRUG DISCOVERY TODAY

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3

(2015) A. Blinc et al.   EUROPEAN JOURNAL OF VASCULAR AND ENDOVASCULAR SURGERY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections

(2015) Dimitra Micha 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

Molecular pathogenesis of Marfan syndrome

(2015) Chrishan J.A. Ramachandra et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis

(2015) Gabe Haller et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

A Case of Rheumatoid Arthritis Associated with SMAD3 Gene Mutation: A New Clinical Entity?

(2015) E. BERTHET et al.   JOURNAL OF RHEUMATOLOGY

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

Endovascular repair of an internal mammary artery aneurysm in a patient with SMAD-3 mutation

(2015) Chris Burke et al.   JOURNAL OF VASCULAR SURGERY

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

(2015) Alma Kuechler et al.   MOLECULAR AND CELLULAR PROBES

Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

(2015) Laurence Campens et al.   Orphanet Journal of Rare Diseases

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

Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

(2014) Marco Ritelli et al.   BMC Medical Genetics

Aortopathy in Marfan syndrome: an update

(2014) Federico Romaniello et al.   CARDIOVASCULAR PATHOLOGY

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

(2014) Marina Gago-Díaz et al.   CLINICA CHIMICA ACTA

Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

(2014) J.R. Cook et al.   CLINICAL GENETICS

Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene

(2014) Paolo Fontana et al.   GENE

Loeys–Dietz syndrome: a primer for diagnosis and management

(2014) Gretchen MacCarrick et al.   GENETICS IN MEDICINE

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

(2014) Jordan P. Lerner-Ellis et al.   MOLECULAR GENETICS AND METABOLISM

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

(2014) Ronald V. Lacro et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a NovelSMAD3Mutation: Further Delineation of the Phenotype

(2013) Anita Wischmeijer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

(2013) Ruth Leutermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

(2013) Elena M. Gallo et al.   JOURNAL OF CLINICAL INVESTIGATION

GM-CSF contributes to aortic aneurysms resulting from SMAD3 deficiency

(2013) Ping Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

Multiple Aneurysms in a Patient With Aneurysms-Osteoarthritis Syndrome

(2012) Thomas Martens et al.   ANNALS OF THORACIC SURGERY

An unanticipated copy number variant of chromosome 15 disruptingSMAD3reveals a three-generation family at serious risk for aortic dissection

(2012) Y Hilhorst-Hofstee et al.   CLINICAL GENETICS

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

(2012) Marjolijn Renard et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

(2012) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

(2011) Mine Arslan-Kirchner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Generation of mice with a conditional allele for the transforming growth factor beta3 gene

(2011) Thomas Doetschman et al.   GENESIS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

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

Latent TGF-β structure and activation

(2011) Minlong Shi et al.   NATURE

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

A Continuous Observation of the Degenerative Process in the Intervertebral Disc of Smad3 Gene Knock-Out Mice

(2009) Chen-Guang Li et al.   SPINE

Non-Smad pathways in TGF-β signaling

(2008) Ying E Zhang   CELL RESEARCH

TRAF6 Mediates Smad-Independent Activation of JNK and p38 by TGF-β

(2008) Motozo Yamashita et al.   MOLECULAR CELL