Genetics of Valvular Heart Disease

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with aMYH7mutation

(2013) Audra L. Bettinelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

(2013) Ilenia Foffa et al.   BMC Medical Genetics

Expression of the BMP Receptor Alk3 in the Second Heart Field Is Essential for Development of the Dorsal Mesenchymal Protrusion and Atrioventricular Septation

(2013) Laura E. Briggs et al.   CIRCULATION RESEARCH

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

(2013) Rong Xiang et al.   GENE

Valvular Heart Disease in Patients with Osteogenesis Imperfecta

(2013) Mohammad Q. Najib et al.   JOURNAL OF CARDIAC SURGERY

Insufficient versican cleavage and Smad2 phosphorylation results in bicuspid aortic and pulmonary valves

(2013) Loren E. Dupuis et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Tgfβ-Smad and MAPK signaling mediate scleraxis and proteoglycan expression in heart valves

(2013) Damien N. Barnette et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease

(2013) Kevin Bosse et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Genetic Associations with Valvular Calcification and Aortic Stenosis

(2013) George Thanassoulis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

(2013) Marco Ritelli et al.   Orphanet Journal of Rare Diseases

Developmental basis for filamin-A-associated myxomatous mitral valve disease

(2012) Kimberly Sauls et al.   CARDIOVASCULAR RESEARCH

Heart Disease and Stroke Statistics—2013 Update

(2012) Alan S. Go et al.   CIRCULATION

Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart

(2012) Andy Wessels et al.   DEVELOPMENTAL BIOLOGY

Coordinating Tissue Interactions: Notch Signaling in Cardiac Development and Disease

(2012) José Luis de la Pompa et al.   DEVELOPMENTAL CELL

Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

(2012) Huay L. Tan et al.   HUMAN MUTATION

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

(2012) Ratnasari Padang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Deficient Signaling via Alk2 (Acvr1) Leads to Bicuspid Aortic Valve Development

(2012) Penny S. Thomas et al.   PLoS One

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo

(2012) Chaitali Misra et al.   PLoS Genetics

Heart Valve Structure and Function in Development and Disease

(2011) Robert B. Hinton et al.   Annual Review of Physiology

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of RNA binding motif proteins essential for cardiovascular development

(2011) Samantha Maragh et al.   BMC DEVELOPMENTAL BIOLOGY

Nfatc1 Coordinates Valve Endocardial Cell Lineage Development Required for Heart Valve Formation

(2011) Bingruo Wu et al.   CIRCULATION RESEARCH

Heredity of bicuspid aortic valve: is family screening indicated?

(2011) K. L. McBride et al.   HEART

Genetically alike Syrian hamsters display both bifoliate and trifoliate aortic valves

(2011) Valentín Sans-Coma et al.   JOURNAL OF ANATOMY

Loss of Gata5 in mice leads to bicuspid aortic valve

(2011) Brigitte Laforest et al.   JOURNAL OF CLINICAL INVESTIGATION

Inhibitory Role of Notch1 in Calcific Aortic Valve Disease

(2011) Asha Acharya et al.   PLoS One

Filamin-A-Related Myxomatous Mitral Valve Dystrophy: Genetic, Echocardiographic and Functional Aspects

(2011) Aurélie Lardeux et al.   Journal of Cardiovascular Translational Research

Transcriptional regulation of heart valve development and disease

(2010) Elaine E. Wirrig et al.   CARDIOVASCULAR PATHOLOGY

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

(2010) Alex V. Postma et al.   Circulation-Cardiovascular Genetics

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

(2010) Fransiska Malfait et al.   GENETICS IN MEDICINE

Bicuspid Aortic Valve Disease

(2010) Samuel C. Siu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies

(2010) Christine B. Kern et al.   MATRIX BIOLOGY

Valvular Heart Disease: Diagnosis and Management

(2010) Kameswari Maganti et al.   MAYO CLINIC PROCEEDINGS

Heart Valve Development

(2009) Michelle D. Combs et al.   CIRCULATION RESEARCH

Notch1 represses osteogenic pathways in aortic valve cells

(2009) Vishal Nigam et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation

(2009) T. Araki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abundance and location of proteoglycans and hyaluronan within normal and myxomatous mitral valves

(2008) Vishal Gupta et al.   CARDIOVASCULAR PATHOLOGY

Cardiac transgenic matrix metalloproteinase-2 expression induces myxomatous valve degeneration: a potential model of mitral valve prolapse disease

(2008) Rajeev Mahimkar et al.   CARDIOVASCULAR PATHOLOGY

Management of the Ascending Aorta in Patients with Bicuspid Aortic Valve Disease

(2008) Michael P. Vallely et al.   Heart Lung and Circulation

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

(2008) Yoko Aoki et al.   HUMAN MUTATION

The multifaceted role of Notch in cardiac development and disease

(2007) Frances A. High et al.   NATURE REVIEWS GENETICS