The emerging role of GATA transcription factors in development and disease

MHFM Lentjes, HEC Niessen, Y Akiyama… - Expert reviews in …, 2016 - cambridge.org
The GATA family of transcription factors consists of six proteins (GATA1-6) which are
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders

T Prendiville, PY Jay, WT Pu - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Study of monogenic congenital heart disease (CHD) has provided entry points to gain new
understanding of heart development and the molecular pathogenesis of CHD. In this review …

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

A Bonnefond, M Boissel, A Bolze, E Durand… - Nature …, 2020 - nature.com
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

R **ang, LL Fan, H Huang, BB Cao, XP Li, DQ Peng… - Gene, 2014 - Elsevier
Congenital heart disease (CHD) is the most common birth defect in humans, and the
etiology of most CHD remains to be elusive. Atrial septal defect (ASD) makes up 30–40% of …

[HTML][HTML] Acetylation of H3K4, H3K9, and H3K27 mediated by p300 regulates the expression of GATA4 in cardiocytes

W Zhou, D Jiang, J Tian, L Liu, T Lu, X Huang, H Sun - Genes & Diseases, 2019 - Elsevier
GATA4 is a particularly important cardiogenic transcription factor and serves as a potent
driver of cardiogenesis. Recent progress in the field has made it clear that histone …

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

A Zada, LE Kuil, BM de Graaf, N Kakiailatu… - Frontiers in cell and …, 2022 - frontiersin.org
Background: Pediatric Intestinal Pseudo-obstruction (PIPO) is a congenital enteric disorder
characterized by severe gastrointestinal (GI) dysmotility, without mechanical obstruction …

Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population

Y Cao, J Wang, C Wei, Z Hou, Y Li, H Zou, M Meng… - Gene, 2016 - Elsevier
Congenital heart disease (CHD) is the most common birth abnormality, and more than 40%
CHD subtypes are sporadic atrial septal defect (ASD) and ventricular septal defect (VSD) …

CITED2 Mutation and methylation in children with congenital heart disease

M Xu, X Wu, Y Li, X Yang, J Hu, M Zheng… - Journal of Biomedical …, 2014 - Springer
Abstract Background The occurrence of Congenital Heart Disease (CHD) is resulted from
either genetic or environmental factors or the both. The CITED2 gene deletion or mutation is …

High-risk genes involved in common septal defects of congenital heart disease

S Chaithra, S Agarwala, NB Ramachandra - Gene, 2022 - Elsevier
The septation defect is one of the main categories of congenital heart disease (CHD). They
can affect the septation of the atria leading to atrial septal defect (ASD), septation of …

Variations of CITED2 Are Associated with Congenital Heart Disease (CHD) in Chinese Population

Y Liu, F Wang, Y Wu, S Tan, Q Wen, J Wang, X Zhu… - PLoS …, 2014 - journals.plos.org
CITED2 was identified as a cardiac transcription factor which is essential to the heart
development. Cited2-deficient mice showed cardiac malformations, adrenal agenesis and …