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GATA transcription factors in the developing and adult heart.
Pikkarainen S, Tokola H, Kerkelä R, Ruskoaho H. Pikkarainen S, et al. Cardiovasc Res. 2004 Aug 1;63(2):196-207. doi: 10.1016/j.cardiores.2004.03.025. Cardiovasc Res. 2004. PMID: 15249177 Review.
During the past decade, emerging evidence has accumulated of different nuclear transcription factors in regulation of cardiac development and growth as well as in cardiac hypertrophy and heart failure. GATA-4, -5 and -6 are zinc finger transcription factors that are expres …
During the past decade, emerging evidence has accumulated of different nuclear transcription factors in regulation of cardiac development an …
Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.
Du YT, Moore L, Poplawski NK, De Sousa SMC. Du YT, et al. Endocrinol Diabetes Metab Case Rep. 2019 May 3;2019:19-0022. doi: 10.1530/EDM-19-0022. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2019. PMID: 31051468 Free PMC article.
The proband's paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missense variant (Chr18:g.19761441T>C, c.1330T>C, p.Cys444Arg) in exon 4 of GATA6, which is class 5 (pathogenic) using American Colle …
The proband's paternal grandmother had a congenital heart defect. Genetic testing of the proband revealed a novel heterozygous missen …
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.
Sanchez-Lechuga B, Saqlain M, Ng N, Colclough K, Woods C, Byrne M. Sanchez-Lechuga B, et al. BMC Med Genet. 2020 Apr 3;21(1):70. doi: 10.1186/s12881-020-01012-2. BMC Med Genet. 2020. PMID: 32245430 Free PMC article.
BACKGROUND: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. ...CONCLUSION: Rarely GATA6 mutations can cause adult onset diabetes. This report highlights the importance of screening the …
BACKGROUND: Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus …
Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X, Luo Y, Wang J, Huang D. Yue X, et al. Mol Biotechnol. 2024 Mar;66(3):467-474. doi: 10.1007/s12033-023-00761-8. Epub 2023 May 18. Mol Biotechnol. 2024. PMID: 37204622 Free PMC article. Review.
Carries with GATA6 mutations (n = 55) have a variable spectrum of diabetes, ranging from neonatal (72.7%), childhood-onset (20%) to adults-onset (7.5%). 83.5% of patients with abnormal pancreatic development. ...Functional studies mostly support loss-of-function as …
Carries with GATA6 mutations (n = 55) have a variable spectrum of diabetes, ranging from neonatal (72.7%), childhood-onset (20%) to …
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O, Konrad D, Joset P, Lang-Muritano M. Gaisl O, et al. J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1027-1030. doi: 10.1515/jpem-2019-0057. J Pediatr Endocrinol Metab. 2019. PMID: 31271559 Free article. Review.
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. ...To date, 11 cases due to an inherited variant have been described. Herein we present a novel heterozygous GATA6 varia
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Škorić-Milosavljević D, Tjong FVY, Barc J, Backx APCM, Clur SB, van Spaendonck-Zwarts K, Oostra RJ, Lahrouchi N, Beekman L, Bökenkamp R, Barge-Schaapveld DQCM, Mulder BJ, Lodder EM, Bezzina CR, Postma AV. Škorić-Milosavljević D, et al. Am J Med Genet A. 2019 Sep;179(9):1836-1845. doi: 10.1002/ajmg.a.61294. Epub 2019 Jul 12. Am J Med Genet A. 2019. PMID: 31301121 Free PMC article.
The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. ...Functional studies mostly support loss-of-function as the pathophysiological mechanism. In conclusion, G
The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spec …
Genetic variations in the transcription factors GATA4 and GATA6 and bleeding complications in patients receiving warfarin therapy.
Yee J, Kim W, Chang BC, Chung JE, Lee KE, Gwak HS. Yee J, et al. Drug Des Devel Ther. 2019 May 17;13:1717-1727. doi: 10.2147/DDDT.S198018. eCollection 2019. Drug Des Devel Ther. 2019. PMID: 31190750 Free PMC article.
The aim of this retrospective study was to investigate the associations between GATA4 and GATA6 polymorphisms and bleeding complication risk at a therapeutic international normalized ratio (INR) in patients with mechanical heart valves. ...NNG in patients having bot …
The aim of this retrospective study was to investigate the associations between GATA4 and GATA6 polymorphisms and bleeding complicati …
A loss-of-function and H2B-Venus transcriptional reporter allele for Gata6 in mice.
Freyer L, Schröter C, Saiz N, Schrode N, Nowotschin S, Martinez-Arias A, Hadjantonakis AK. Freyer L, et al. BMC Dev Biol. 2015 Oct 24;15:38. doi: 10.1186/s12861-015-0086-5. BMC Dev Biol. 2015. PMID: 26498761 Free PMC article.
However, null blastocysts continued to express high levels of Venus in the absence of GATA6 protein, suggesting that early Gata6 transcription is independent of GATA6 protein expression. At early post-implantation stages of embryonic development, there was a …
However, null blastocysts continued to express high levels of Venus in the absence of GATA6 protein, suggesting that early Gata6
The transcription factors GATA4 and GATA6 regulate cardiomyocyte hypertrophy in vitro and in vivo.
Liang Q, De Windt LJ, Witt SA, Kimball TR, Markham BE, Molkentin JD. Liang Q, et al. J Biol Chem. 2001 Aug 10;276(32):30245-53. doi: 10.1074/jbc.M102174200. Epub 2001 May 16. J Biol Chem. 2001. PMID: 11356841 Free article.
Here we demonstrate a direct functional role for GATA4 and GATA6 as regulators of cardiomyocyte hypertrophic growth and gene expression. ...In vivo, transgenic mice with 2.5-fold overexpression of GATA4 within the adult heart demonstrated a slowly progressing …
Here we demonstrate a direct functional role for GATA4 and GATA6 as regulators of cardiomyocyte hypertrophic growth and gene expressi …
Tissue-resident macrophages: then and now.
Davies LC, Taylor PR. Davies LC, et al. Immunology. 2015 Apr;144(4):541-8. doi: 10.1111/imm.12451. Immunology. 2015. PMID: 25684236 Free PMC article. Review.
Macrophages have been at the heart of immune research for over a century and are an integral component of innate immunity. ...In the last decade, it has been revealed that many of these cells are not terminally differentiated and, in most cases, are not derived from haemat …
Macrophages have been at the heart of immune research for over a century and are an integral component of innate immunity. ...In the …
54 results