The molecular basis of congenital heart disease.

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Seminars in Thoracic and Cardiovascular Surgery

• Publication date

  2007-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1053/J.SEMTCVS.2007.07.013PMID 17983950
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spectrum of heart disease associated with murine and human GATA4 mutation.

  2007cited by this paper
• Animal models of human disease: zebrafish swim into view

  2007cited by this paper
• Discovery of tissue-specific exons using comprehensive human exon microarrays

  2007cited by this paper
• Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2.

  2007cited by this paper
• Epigenetics and MicroRNAs

  2007cited by this paper
• Persistent Ductus Arteriosus in the Brown-Norway Inbred Rat Strain

  2006cited by this paper
• Epigenetic gene silencing in cancer – a mechanism for early oncogenic pathway addiction?

  2006cited by this paper
• Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

  2006cited by this paper
• Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling

  2006cited by this paper
• Molecular and cellular basis of congenital heart disease.

  2006cited by this paper
• Making or breaking the heart: from lineage determination to morphogenesis.

  2006cited by this paper
• DNA microarray analysis for human congenital heart disease

  2006cited by this paper
• Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects.

  2006cited by this paper
• A common progenitor at the heart of development.

  2006cited by this paper
• Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

  2006cited by this paper
• Cardiac neural crest.

  2005cited by this paper
• Mutation in myosin heavy chain 6 causes atrial septal defect

  2005cited by this paper
• Mutations in NOTCH1 cause aortic valve disease

  2005cited by this paper
• Genome-wide association studies: theoretical and practical concerns

  2005cited by this paper
• Basics of Cardiac Development for the Understanding of Congenital Heart Malformations

  2005cited by this paper
• Cell biology of cardiac cushion development.

  2005cited by this paper
• Noonan syndrome and related disorders: genetics and pathogenesis.

  2005cited by this paper
• Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry.

  2005cited by this paper
• Scanning the β‐globin gene for mutations in large populations by denaturing capillary and gel electrophoresis

  2005cited by this paper
• Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

  2005cited by this paper
• Conserved Enhancer in the Serum Response Factor Promoter Controls Expression During Early Coronary Vasculogenesis

  2004cited by this paper
• Cardiac neural crest stem cells.

  2004cited by this paper
• NKX2.5 mutations in patients with congenital heart disease.

  2004cited by this paper
• Heart valve development: endothelial cell signaling and differentiation.

  2004cited by this paper
• Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

  2004cited by this paper
• The 11q terminal deletion disorder: A prospective study of 110 cases

  2004cited by this paper
• Cellular recruitment and the development of the myocardium.

  2004cited by this paper
• A role for Tbx5 in proepicardial cell migration during cardiogenesis.

  2004cited by this paper
• Calcineurin signaling and NFAT activation in cardiovascular and skeletal muscle development.

  2004cited by this paper
• A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family

  2004cited by this paper
• Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

  2003cited by this paper
• NKX2.5mutations in patients with congenital heart disease

  2003cited by this paper
• Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

  2003cited by this paper
• Role of TBX1 in human del22q11.2 syndrome.

  2003cited by this paper
• Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

  2003cited by this paper
• GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

  2003cited by this paper
• Mechanisms of alternative pre-messenger RNA splicing.

  2003cited by this paper
• NFAT signaling: choreographing the social lives of cells.

  2002cited by this paper
• NKX2.5 mutations in patients with tetralogy of fallot.

  2002cited by this paper
• Candidate-gene approaches for studying complex genetic traits: practical considerations

  2002cited by this paper
• The incidence of congenital heart disease.

  2002cited by this paper
• Heart development: learning from mistakes.

  2002cited by this paper
• Cardiovascular manifestations in 75 patients with Williams syndrome

  2002cited by this paper
• Prevalence Estimation of Williams Syndrome

  2002cited by this paper
• El epicardio y las células derivadas del epicardio: múltiples funciones en el desarrollo cardíaco

  2002cited by this paper
• The fundamental role of epigenetic events in cancer

  2002cited by this paper
• Development of the coronary blood supply: Changing concepts and current ideas

  2002cited by this paper
• [The epicardium and epicardial-derived cells: multiple functions in cardiac development].

  2002cited by this paper
• Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation.

  2002cited by this paper
• Are rare variants responsible for susceptibility to complex diseases?

  2001cited by this paper
• Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants.

  2001cited by this paper
• Association of transposition of the great arteries in infants with maternal exposures to herbicides and rodenticides.

  2001cited by this paper
• Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

  2001cited by this paper
• NKX2.5 Mutations in Patients With Tetralogy of Fallot

  2001cited by this paper
• Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation

  2001cited by this paper
• Getting the T-box dose right

  2001cited by this paper
• Selective Inhibition of Vascular Endothelial Growth Factor–Mediated Angiogenesis by Cyclosporin a

  2001cited by this paper
• Localization of the Wilms' tumour protein WT1 in avian embryos

  2001cited by this paper
• Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

  2001cited by this paper
• Epidemiology of cardiovascular malformations: prevalence and risk factors.

  2000cited by this paper
• Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

  2000cited by this paper
• Ventricular expression of tbx5 inhibits normal heart chamber development.

  2000cited by this paper
• Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis

  2000cited by this paper
• Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

  2000cited by this paper
• An Nkx-dependent enhancer regulates cGATA-6 gene expression during early stages of heart development.

  2000cited by this paper
• A role for Smad6 in development and homeostasis of the cardiovascular system

  2000cited by this paper
• Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.

  2000cited by this paper
• A genetic blueprint for cardiac development

  2000cited by this paper
• Direct activation of a GATA6 cardiac enhancer by Nkx2.5: evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart.

  2000cited by this paper
• Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

  2000cited by this paper
• Notch signaling: a dance of proteins changing partners.

  2000cited by this paper
• Disruption of hyaluronan synthase-2 abrogates normal cardiac morphogenesis and hyaluronan-mediated transformation of epithelium to mesenchyme.

  2000cited by this paper
• GATA transcription factors and cardiac development.

  1999cited by this paper
• Jagged1 mutations in patients ascertained with isolated congenital heart defects.

  1999cited by this paper
• A role for serum response factor in coronary smooth muscle differentiation from proepicardial cells.

  1999cited by this paper
• Vascular Endothelial Growth Factor Activates Nuclear Factor of Activated T Cells in Human Endothelial Cells: a Role for Tissue Factor Gene Expression

  1999cited by this paper
• A murine model of hereditary hemorrhagic telangiectasia.

  1999cited by this paper
• Requirement of type III TGF-beta receptor for endocardial cell transformation in the heart.

  1999cited by this paper
• 17 – GATA Transcription Factors and Cardiac Development

  1999cited by this paper
• Mechanisms of Segmentation, Septation, and Remodeling of the Tubular Heart

  1999cited by this paper
• Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

  1999cited by this paper
• The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development.

  1999cited by this paper
• Tbx5 is essential for heart development.

  1999cited by this paper
• Context-dependent Transcriptional Cooperation Mediated by Cardiac Transcription Factors Csx/Nkx-2.5 and GATA-4*

  1999cited by this paper
• A role for GATA-4/5/6 in the regulation of Nkx2.5 expression with implications for patterning of the precardiac field.

  1999cited by this paper
• Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart.

  1998cited by this paper
• The transcription factor NF-ATc is essential for cardiac valve formation

  1998cited by this paper
• Cardiac development: Transcription and the broken heart

  1998cited by this paper
• Role of the NF-ATc transcription factor in morphogenesis of cardiac valves and septum

  1998cited by this paper
• Congenital heart disease caused by mutations in the transcription factor NKX2-5.

  1998cited by this paper
• Induction of endocardial cushion tissue in the avian heart is regulated, in part, by TGFbeta-3-mediated autocrine signaling.

  1997cited by this paper
• Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome

  1997cited by this paper
• Erratum: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome

  1997cited by this paper
• Fashioning the vertebrate heart: earliest embryonic decisions.

  1997cited by this paper
• Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.

  1997cited by this paper

• polr2i is Required for Zebrafish Early Cardiac Development.

  2025cites this paper
• Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis

  2025cites this paper
• Cord blood cardiovascular biomarkers in tetralogy of fallot and D-transposition of great arteries

  2023cites this paper
• Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease

  2021cites this paper
• Some Regulation Mechanisms of Candidate Genes for Human Cardiovascular Diseases

  2021cites this paper
• Congenital heart disease: Saving lives and securing liveliness with early primary care and expert family care

  2021cites this paper
• The Role of Epigenetics in Congenital Heart Disease

  2021cites this paper
• Molecular systems in cardiovascular developmental disorders

  2020cites this paper
• Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease

  2018cites this paper
• Tbx1 and Foxi3 genetically interact in the third pharyngeal pouch endoderm required for thymus and parathyroid development

  2018cites this paper
• The long non-coding RNA uc.4 influences cell differentiation through the TGF-beta signaling pathway

  2018cites this paper
• Evaluation of Brain Natriuretic Peptide, Tumor Necrosis Factor and Interleukin-6 Plasma Levels in Infants and Children with Congenital Heart Disease

  2018cites this paper
• Functional mutant GATA4 identification and potential application in preimplantation diagnosis of congenital heart diseases.

  2018cites this paper
• A Path to Implement Precision Child Health Cardiovascular Medicine

  2017cites this paper
• Deep Homology?: Uncanny Similarities of Humans and Flies Uncovered by Evo-Devo

  2017cites this paper
• Congenital Heart Disease Gene Identification by Whole Exome Sequencing

  2017cites this paper
• A HAND to TBX5 Explains the Link Between Thalidomide and Cardiac Diseases

  2017cites this paper
• Epigenetics for the pediatric cardiologist

  2017influential citation
• Increased regurgitant flow causes endocardial cushion defects in an avian embryonic model of congenital heart disease

  2017cites this paper
• Mitochondrial Mutations in tRNA Glu and Cytochrome b Genes Associated with Iranian Congenial Heart Disease

  2016cites this paper
• Mitochondrial Mutations in tRNA Glu and Cytochrome b Genes Associated with Iranian Congenial Heart Disease

  2016cites this paper
• 4-D OCT in developmental cardiology

  2015cites this paper
• Angiogenic Gene Expression in Down Syndrome Fetal Hearts

  2015cites this paper
• 4-D OCT in developmental cardiology

  2015cites this paper
• Congenital heart disease Maternal and foetal angiogenic imbalance in congenital heart defects

  2014cites this paper
• Curcumin-Mediated Cardiac Defects in Mouse is Associated with a Reduced Histone H3 Acetylation and Reduced Expression of Cardiac Transcription Factors

  2014cites this paper
• Mapping the gap: curation of phenotype-driven gene discovery in congenital heart disease research

  2014cites this paper
• Maternal and foetal angiogenic imbalance in congenital heart defects.

  2014cites this paper
• Engineering three-dimensional cardiac microtissues for potential drug screening applications.

  2014cites this paper
• Additional sex combs‐like family genes are required for normal cardiovascular development

  2014cites this paper
• ANALYSIS OF GENETIC MUTATIONS CONTRIBUTING TO CONGENITAL HEART DEFECTS IN AN ENU INDUCED MOUSE MODEL

  2014cites this paper
• Prenatal screening strategies, long-term outcome of children with marked changes in maternal screening tests and the most common syndromic heart anomalies in Estonia

  2014cites this paper
• Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

  2013cites this paper
• Fetal tricuspid annular plane systolic excursion (f‐TAPSE): evaluation of fetal right heart systolic function with conventional M‐mode ultrasound and spatiotemporal image correlation (STIC) M‐mode

  2013cites this paper
• Association between maternal exposure to housing renovation and offspring with congenital heart disease: a multi-hospital case–control study

  2013cites this paper
• Maternal serum placental growth factor at 11–13 weeks' gestation and fetal cardiac defects

  2013cites this paper
• Insight into the Genetic Relevance of Congenital Heart Defects

  2012cites this paper
• The Effects of Maternal Systemic Lupus Erythematosus on the Developing Fetus

  2012cites this paper
• Crystal structure of the human NKX2.5 homeodomain in complex with DNA target.

  2012cites this paper
• Congenital heart disease and the specification of left-right asymmetry.

  2012cites this paper
• Optical coherence tomography captures rapid hemodynamic responses to acute hypoxia in the cardiovascular system of early embryos

  2012influential citation
• Genetic screening of cardiac syndromes

  2012cites this paper
• Chromosome Abnormalities in Neonates with Congenital Heart Defects

  2012influential citation
• Mutations of TFAP2B in congenital heart disease patients in Mysore, South India

  2011cites this paper
• GATA4 Specific Nonsynonymous Single-Nucleotide Polymorphisms in Congenital Heart Disease Patients of Mysore, India

  2011influential citation
• Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of the A2BP1 Gene

  2011cites this paper
• Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects.

  2011cites this paper
• High-speed optical coherence tomography imaging of the beating avian embryonic heart.

  2011cites this paper
• Cardiopatías Congénitas, Resultados del Manejo Perioperatorio en 18 Meses: Experiencia en el Departamento de Cardiocirugía Centro Materno Infantil. UNA

  2011cites this paper
• Database Methods for Copy Number Variant Analysis of One Hundred Disease Associated Genes in Human Congenital Heart Disease

  2011cites this paper
• Molecular mechanisms of congenital heart disease.

  2010cites this paper
• Single-Nucleotide Polymorphisms of NKX2.5 Found in Congenital Heart Disease Patients of Mysore, South India

  2010cites this paper
• Non-Syndromic atrioventricular septal defects: a refined definition, associated risk factors, and prognostic factors for left atrioventricular valve replacement following primary repair

  2010cites this paper
• Genome-wide identification of mouse congenital heart disease loci.

  2010cites this paper
• PATHOGENIC MECHANISMS OF CONGENITAL HEART DISEASE

  2010influential citation
• Targeted deletion of Hand2 in cardiac neural crest-derived cells influences cardiac gene expression and outflow tract development.

  2010cites this paper
• Polyvalvular disease associated with multiple congenital anomalies and pericentric inversion of chromosome 1 (p32q25).

  2009cites this paper
• Results of Perioperative Care of Patients with Congenital Heart Defects during 18 Months Experience of the Cardiac Surgery Department of the Centro Materno Infantil. National University of Asunción

  2009cites this paper
• Incomplete penetrance and variable expressivity: is there a microRNA connection?

  2009cites this paper