Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

BMP signaling in congenital heart disease: New developments and future directions

(2011) Jun Wang et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

TGFβ signaling and congenital heart disease: Insights from mouse studies

(2011) Helen M. Arthur et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Preferential Activation of SMAD1/5/8 on the Fibrosa Endothelium in Calcified Human Aortic Valves - Association with Low BMP Antagonists and SMAD6

(2011) Randall F. Ankeny et al.   PLoS One

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

(2010) H. R. Griffin et al.   HEART

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Recurrence of Congenital Heart Defects in Families

(2009) Nina Øyen et al.   CIRCULATION

Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects

(2009) Kelly A. Smith et al.   CIRCULATION

BMP type II receptor regulates positioning of outflow tract and remodeling of atrioventricular cushion during cardiogenesis

(2009) Hideyuki Beppu et al.   DEVELOPMENTAL BIOLOGY

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

(2009) Erich Roessler et al.   MOLECULAR GENETICS AND METABOLISM

Endothelial Expression of Bone Morphogenetic Protein Receptor Type 1a is Required for Atrioventricular Valve Formation

(2008) Kan Kaneko et al.   ANNALS OF THORACIC SURGERY

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

(2008) Bhagyalaxmi Mohapatra et al.   HUMAN MOLECULAR GENETICS

Ambulatory Blood Pressure Is Associated With Polymorphic Variation in P2X Receptor Genes

(2008) Julian Palomino-Doza et al.   HYPERTENSION

CHAINSAW: a program for mutating pdb files used as templates in molecular replacement

(2008) Norman Stein   JOURNAL OF APPLIED CRYSTALLOGRAPHY

Genetic interaction between Bmp2 and Bmp4 reveals shared functions during multiple aspects of mouse organogenesis

(2008) Devorah C. Goldman et al.   MECHANISMS OF DEVELOPMENT