RNA splicing: regulation and dysregulation in the heart

MMG van den Hoogenhof, YM Pinto… - Circulation …, 2016 - Am Heart Assoc
RNA splicing represents a post-transcriptional mechanism to generate multiple functional
RNAs or proteins from a single transcript. The evolution of RNA splicing is a prime example …

Prenatal alcohol exposure induced congenital heart diseases: From bench to bedside

Z Chen, S Li, L Guo, X Peng, Y Liu - Birth Defects Research, 2021 - Wiley Online Library
Alcohol consumption is increasing worldwide. Many child‐bearing‐aged women consume
alcohol during pregnancy, intentionally or unintentionally, thereby increasing the potential …

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

B Yang, W Zhou, J Jiao, JB Nielsen, MR Mathis… - Nature …, 2017 - nature.com
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor
for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 …

Association of NKX2‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children

EG Behiry, MA Al‐Azzouny, D Sabry… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Several genes encoding transcription factors are known to be the primary
cause of congenital heart disease. NKX2‐5 and GATA4 were the first congenital heart …

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 …

[HTML][HTML] Computational modeling suggests impaired interactions between NKX2. 5 and GATA4 in individuals carrying a novel pathogenic D16N NKX2. 5 mutation

S Mattapally, M Singh, KS Murthy, S Asthana… - Oncotarget, 2018 - ncbi.nlm.nih.gov
Abstract NKX2. 5, a homeobox containing gene, plays an important role in embryonic heart
development and associated mutations are linked with various cardiac abnormalities. We …

The effect of maternal exposure to di‐(2‐ethylhexyl)‐phthalate on fetal cardiac development in mice

C Tang, Y Deng, H Duan, Y Zhang, Y Li… - Journal of Applied …, 2018 - Wiley Online Library
Accumulating evidence has suggested a link between maternal di‐(2‐ethylhexyl)‐phthalate
(DEHP) exposure and various developmental abnormalities. However, the evidence …

Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot

R Dixit, C Narasimhan, VI Balekundri… - Human …, 2018 - Wiley Online Library
Transcription factor GATA4 is known to play crucial role during heart development,
regulating expression of several other key cardiogenic factors. Various GATA4 mutations are …

Implication of GATA4 synonymous variants in congenital heart disease: A comprehensive in-silico approach

R Dixit, A Kumar, B Mohapatra - Mutation Research/Fundamental and …, 2019 - Elsevier
Synonymous variations, previously considered as neutral, are recently shown to have a
significant impact on mRNA structure and stability thereby affecting protein expression and …

[HTML][HTML] Let-7a regulates expression of β1-adrenoceptors and forms a negative feedback circuit with the β1-adrenoceptor signaling pathway in chronic ischemic heart …

Y Du, M Zhang, W Zhao, Y Shu, M Gao, Y Zhuang… - Oncotarget, 2017 - ncbi.nlm.nih.gov
Background The aim of the present study was to investigate the role of microRNA (miRNA)
let-7a in down-regulation of β 1-adrenoceptors (β 1-AR) and elucidate the underlying …