Other studies in patients with impaired sexual development have shown that mutations in genes such as SRY, SOX9, NR5A1, GATA4
, and DMRT1, which are involved in processes related to sex differentiation, can pose a risk for TGCT development (23,27).
PNDM is a genetically heterogeneous disorder due to mutations in 23 different genes described to date: KCNJ11, ABCC8, FOXP3, GCK, PDX1, pancreas-specific transcription factor 1A (PTF1A), EIF2AK3, SLC2A2, GATA6, GATA4
, SLC19A2, WFS1, NEUROD1, NEUROG3, RFX6, LRBA, NKX2-2, MNX1, IER3IP1, INS, S T A T 3 , GLIS3 and HNF1B (3,4,5,6,7,8,9).
Hepatocyte nuclear factor 4a contributes to thyroid hormone homeostasis by cooperatively regulating the type 1 iodothyronine deiodinase gene with GATA4
and Kruppellike transcription factor 9.
Findings from GWAS in European population has highlighted the significant association of gene polymorphisms in FDFT1 and GATA4
involved in cholesterol synthesis and a potent regulator of steroidogenic gene transcription, respectively, suggesting altered androgen synthesis .
Figure 9 indicates Gata4
and NKx2.5, as two factors that characterize cardiogenic differentiation.
deficient mice (at e10.5) display abnormal ventral folding and inhibition of midline fusion of the primordial heart, whereas FoxO3/FoxO4 null mice (at e10.5-11) have deficient vascular and cardiac growth.
Direct reprogramming of fibroblasts into cardiomyocyte-like cells was first reported in 2010 using viral overexpression of three important cardiac developmental transcription factors (TFs), Gata4
, Mef2c, and Tbx5 (GMT) in mouse cardiac and tail-tip fibroblasts .
Gutkowska, "Downregulation in GATA4
and downstream structural and contractile genes in the db/db mouse heart," ISRN Endocrinology, vol.
Complex CDHs, which account for approximately 5% of cases of familial CDH, are often associated with midline fusion defects such as neural tube defects, cleft lip and palate, and omphalocele, e.g., Donnai-Barrow syndrome inherited in an autosomal recessive (AR) manner , Matthew-Wood syndrome , and an autosomal dominant (AD) disorder with decreased penetrance and/or variable expressivity with GATA4
or ZEP4 mutation [7, 8].
We also included potential upstream genes such as Csf1r , Gata4
, Nkx2.5, and Tbx5 .
[USA], Aug 15 (ANI): A team of researchers has uncovered a novel role for transcription factor Gata4
in reducing the post-heart attack fibrosis.
Amongst these, analyses of SRY (Sex Determining Region Y)-box 1 (Sox1), paired box 6 (Pax6), neural cell adhesion molecule (NCAM) and neuroectodermal stem cell marker (Nestin) might be suitable to characterize ectodermal commitment; [alpha]-fetoprotein, cytokeratins, somatostatin, bone morphogenetic protein 4 (BMP4), GATA binding protein 4 (GATA4
) and hepatocyte nuclear factor-4 are commonly expressed in the endoderm; brachyury, a-cardiac actin, and the atrial natriuretic factor are expressed at the mesoderm level, as reviewed by Pistollato et al.