A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

(2018) Thomas R. Caulfield et al.   Molecular Genetics & Genomic Medicine

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

(2018) Catalina Vasilescu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Post-Translational Modifications of the TAK1-TAB Complex

(2017) Yusuke Hirata et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Dilated cardiomyopathy

(2017) Robert G Weintraub et al.   LANCET

TGF-β Signaling in Control of Cardiovascular Function

(2017) Marie-José Goumans et al.   Cold Spring Harbor Perspectives in Biology

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

(2016) Emma M. Wade et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel mutation of GATA4 (K300T) associated with familial atrial septal defect

(2016) Jia Chen et al.   GENE

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

(2016) Jaeger P. Ackerman et al.   Congenital Heart Disease

FamilialTAB2microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

(2015) Karin Weiss et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

(2015) Vincenzo Salpietro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Sudden Death in Childhood Cardiomyopathy

(2015) Tara Bharucha et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Modulation of Transforming Growth Factor-  Signaling and Extracellular Matrix Production in Myxomatous Mitral Valves by Angiotensin II Receptor Blockers

(2012) A. Geirsson et al.   CIRCULATION

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Ligand-specific function of transforming growth factor beta in epithelial-mesenchymal transition in heart development

(2009) Mohamad Azhar et al.   DEVELOPMENTAL DYNAMICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols