2024年12月25日 · GATA6 (GATA Binding Protein 6) is a Protein Coding gene. Diseases associated with GATA6 include Heart Defects, Congenital, And Other Congenital Anomalies and Atrioventricular Septal Defect 5. Among its related pathways are …

Transcription factor GATA-6, also known as GATA-binding factor 6 (GATA6), is protein that in humans is encoded by the GATA6 gene. [5] The gene product preferentially binds (A/T/C)GAT(A/T)(A) of the consensus binding sequence .

GATA6 regulates aging of human mesenchymal stem/stromal cells. GATA6 Expression Distinguishes Classical and Basal-like Subtypes in Advanced Pancreatic Cancer. The value of GATA6 immunohistochemistry and computer-assisted diagnosis to predict clinical outcome in advanced pancreatic cancer.

This study underscores the broad phenotypic spectrum by presenting two patients with de novo GATA6 mutations, both exhibiting complex cardiac defects, pancreatic, and other abnormalities. Furthermore, we provided a detailed overview of all published human genetic variation in/near GATA6 published to date and the associated phenotypes (n = 78).

2018年3月22日 · The GATA6 gene is located on 18q11.2, and mutations in GATA6 as well as a microdeletion including GATA6 have been reported in patients with congenital heart disease. 36,37 The present study shows that GATA6 expression is decreased in the valves and aortas of individuals with BAV versus TAV.

2023年9月12日 · We report a novel, familial GATA6 likely pathogenic variant associated with CHD, DM, and NEC with intestinal perforation. These findings expand the phenotypic spectrum of pathologic GATA6...

2024年5月28日 · Audiger et al. show that the inadvertent mis-expression of the transcription factor GATA6 in hematopoietic progenitors results in a loss of common lymphoid progenitors, B cells, and plasmacytoid dendritic cells and instead drives progenitors down the granulocyte-macrophage pathway.

We present two patients, both with a de novo GATA6 mutation, who illustrate the phenotypic heterogeneity associated with mutations in this gene. In addition, we provide an overview of all the GATA6 mutations reported in the literature (n = 78) to date and explore genotype–phenotype correlations. 2. MATERIALS AND METHODS 2.1. Clinical evaluation

2025年3月4日 · In this study, we evaluated the prognostic utility of GATA6 immunohistochemistry (IHC), measured with digital assistance, in the ESPAC-4 trial of adjuvant chemotherapy for pancreatic cancer, 2 which defined one of the current standard-of-care adjuvant therapies.

4 天之前 · Congenital heart disease results in babies being born with structural defects to their hearts. It is one of the most common kind of human birth defects, yet its genetic causes remain poorly understood. Previous studies have identified a gene known as GATA6, which is sometimes altered in patients with the condition. As for most human genes, cells typically carry two …