A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
- PMID: 15235040
- PMCID: PMC1735839
- DOI: 10.1136/jmg.2004.018895
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
Similar articles
-
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.Gene. 2014 Jan 25;534(2):320-3. Gene. 2014. PMID: 24498650
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.Nature. 2003 Jul 24;424(6947):443-7. doi: 10.1038/nature01827. Epub 2003 Jul 6. Nature. 2003. PMID: 12845333
-
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.Am J Med Genet A. 2005 May 15;135(1):47-52. doi: 10.1002/ajmg.a.30684. Am J Med Genet A. 2005. PMID: 15810002
-
Interaction makes the heart grow stronger.Trends Mol Med. 2003 Oct;9(10):407-9. doi: 10.1016/j.molmed.2003.08.009. Trends Mol Med. 2003. PMID: 14557051 Review.
-
Molecular genetics of atrioventricular septal defects.Curr Opin Cardiol. 2004 May;19(3):205-10. doi: 10.1097/00001573-200405000-00003. Curr Opin Cardiol. 2004. PMID: 15096951 Review.
Cited by
-
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.Hum Mol Genet. 2023 Jun 19;32(13):2152-2161. doi: 10.1093/hmg/ddad050. Hum Mol Genet. 2023. PMID: 37000005 Free PMC article.
-
Gestational palmitic acid suppresses embryonic GATA-binding protein 4 signaling and causes congenital heart disease.Cell Rep Med. 2023 Mar 21;4(3):100953. doi: 10.1016/j.xcrm.2023.100953. Epub 2023 Feb 20. Cell Rep Med. 2023. PMID: 36809766 Free PMC article.
-
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.Transl Pediatr. 2021 Sep;10(9):2366-2386. doi: 10.21037/tp-21-297. Transl Pediatr. 2021. PMID: 34733677 Free PMC article. Review.
-
Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.Curr Med Sci. 2022 Feb;42(1):129-143. doi: 10.1007/s11596-021-2428-9. Epub 2021 Oct 15. Curr Med Sci. 2022. PMID: 34652630
-
Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).Front Cell Dev Biol. 2021 Jan 21;9:630069. doi: 10.3389/fcell.2021.630069. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33585486 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources