GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
Explore this paper's citation graph
Summary
It is shown that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23 and implicate GATA4 as a genetic cause of human cardiac sePTal defects, perhaps through its interaction with TBX5.
- Type
- article
- Published
- 2003-07-24
- Cited by
- 1,257
- References
- 44
- OpenAlex
- https://openalex.org/W1989457690
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4304709
Keywords
GATA4, Missense mutation, Genetics, Mutation, Biology
References
- Incidence of congenital heart disease: I. Postnatal incidence
- Endless Forms: The Evolution of Gene Regulation and Morphological Diversity
- Crustacean appendage evolution associated with changes in Hox gene expression
- An epigenetic mutation responsible for natural variation in floral symmetry
- Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation
- A genetic blueprint for cardiac development
- Phloem long-distance transport of CmNACP mRNA: implications for supracellular regulation in plants.
- Expression of maize KNOTTED1 related homeobox genes in the shoot apical meristem predicts patterns of morphogenesis in the vegetative shoot
- Novel marker genes for early leaf development indicate spatial regulation of carbohydrate metabolism within the apical meristem.
- GATA3 haplo-insufficiency causes human HDR syndrome
- A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.
- Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
- The erythroid-specific transcription factor Eryf1: a new finger protein.
- The PHANTASTICA gene encodes a MYB transcription factor involved in growth and dorsoventrality of lateral organs in Antirrhinum.
- The incidence of congenital heart disease.
- Evolution of Leaf Morphogenesis: Evidence from Developmental and Phylogenetic Data in Papaveraceae
- Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
- Congenital heart disease caused by mutations in the transcription factor NKX2-5.
- The maize rough sheath2 gene and leaf development programs in monocot and dicot plants.
- The Zinc Finger-containing Transcription Factors GATA-4, -5, and -6
Cited by
- Factors involved in signal transduction during vertebrate myogenesis.
- Congenital heart diseases in small animals: part I. Genetic pathways and potential candidate genes.
- Insights into the genetic basis of congenital heart disease
- 8p23.1 duplication detected by array‐CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly
- Krüppel-Like Factor 2 Is Required for Normal Mouse Cardiac Development
- Prevalence and Spectrum of PITX2c Mutations Associated with Congenital Heart Disease
- Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.
- Uncovering the Rare Variants of DLC1 Isoform 1 and Their Functional Effects in a Chinese Sporadic Congenital Heart Disease Cohort
- Genetics of Valvular Heart Disease
- NKX2-6 mutation predisposes to familial atrial fibrillation.
- Silencing of nodal modulator 1 inhibits the differentiation of P19 cells into cardiomyocytes.
- Acute phase proteins altered in the plasma of patients with congenital ventricular septal defect
- Tetralogy of Fallot and Hypoplastic Left Heart Syndrome – Complex Clinical Phenotypes Meet Complex Genetic Networks
- Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis
- The roles of vascular endothelial growth factor gene polymorphisms in congenital heart diseases: a meta-analysis
- Genetics of Congenital Heart Malformations: Clinical and Molecular Studies
- Clinical and Genetic Studies in Inherited Cardiovascular Malformations
- Regulation of GATA4 transcriptional activity in cardiovascular development and disease.
- Characterization and interactions of Tbx2
- Molekulargenetische Grundlagen des Vorhofseptumdefekts
Related papers
- The Transcription Factors GATA4 and dHAND Physically Interact to Synergistically Activate Cardiac Gene Expression through a p300-dependent Mechanism*
- Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype
- Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype
- Missense mutation G296S in GATA4 is not responsible for cardiac septal defects
- Art27 Interacts with GATA4, FOG2 and NKX2.5 and Is a Novel Co-Repressor of Cardiac Genes
- A new approach to transcription factor screening for reprogramming of fibroblasts to cardiomyocyte-like cells.
- FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation.
- Zebrafish Vestigial Like Family Member 4b Is Required for Valvulogenesis Through Sequestration of Transcription Factor Myocyte Enhancer Factor 2c
- Gzf3p, a fourth GATA factor involved in nitrogen‐regulated transcription in Saccharomyces cerevisiae
- Transcription Factor Pathways and Congenital Heart Disease