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25 sty 2011 · Sequencing of the ORF of GATA4 identified a heterozygous missense mutation (p.Gly221Arg) in the conserved N-terminal zinc finger of GATA4. This mutation was not observed in 450 ancestry-matched...
17 lip 2014 · We report five patients with deletions (n = 4) or mutations of the GATA4 gene who have diabetes and a variable exocrine phenotype. In four cases, diabetes presented in the neonatal period (age at diagnosis 1–7 days).
23 kwi 2013 · The human GATA4 gene (NM_002052.3), mapped to 8p23.1, consists of 6 exons that encode a 442 amino acid protein. For each of the collected 384 CHD cases, all exons and the intron-exon flanking regions of GATA4 were amplified by polymerase chain reaction (PCR) for a mutation screen by sequencing.
22 paź 2018 · In addition to their specific roles, functional redundancy is a hallmark of GATA4/5/6 in heart development. GATA4 and GATA6 act redundantly in the regulation of cardiac lineage specification as the inactivation of both genes leads to a complete failure to initiate the cardiac morphogenetic program (Zhao et al., 2008) (Fig. 4E).
GATA4 was a transcription factor that activated mouse double minute 2 homolog (MDM2) and B cell lymphoma 2 (BCL2) expression in ALL cells. This report demonstrates that GATA4 promotes oncogenesis by inhibiting miR125b-dependent suppression of DKK3 expression.
Both human ovarian tissue samples and freshly isolated GL cells derived from preovulatory follicles of gonadotropin-treated women expressed GATA4, GATA6, and FOG2 (603693) transcripts, and GATA6 mRNA expression in GL cell cultures was stimulated by human CG (see 118860) and 8-bromo-cAMP.
5 lis 2024 · Se analizaron en sentido y antisentido cada uno de los seis exones que conforman el gen GATA4. Se identificaron 17 mutaciones, incluyendo cinco cambios no sinónimos en la secuencia, una variante sinónima, una variación de la secuencia en la región 5’UTR, tres cambios intrónicos. siete deleciones.
