Nkx2. 5: a crucial regulator of cardiac development, regeneration and diseases

C Cao, L Li, Q Zhang, H Li, Z Wang… - Frontiers in …, 2023 - frontiersin.org
Cardiomyocytes fail to regenerate after birth and respond to mitotic signals through cellular
hypertrophy rather than cellular proliferation. Necrotic cardiomyocytes in the infarcted …

Update on the genetic profile of mitral valve development and prolapse

CE Opris, H Suciu, S Flamand, CI Opris… - Pathology-Research and …, 2024 - Elsevier
The purpose of this review is to present a comprehensive overview of the literature
published up to February 2024 on the PubMed database regarding the development of …

Prioritizing cardiovascular disease-associated variants altering NKX2-5 and TBX5 binding through an integrative computational approach

EG Peña-Martínez, DA Pomales-Matos… - Journal of Biological …, 2023 - ASBMB
Cardiovascular diseases (CVDs) are the leading cause of death worldwide and are heavily
influenced by genetic factors. Genome-wide association studies have mapped> 90% of CVD …

[HTML][HTML] Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases

EG Peña-Martínez… - Frontiers in bioscience …, 2024 - ncbi.nlm.nih.gov
Genome-wide association studies (GWAS) have mapped over 90% of disease-and
quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory …

Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements

S Iñiguez-Muñoz, P Llinàs-Arias… - Cellular and Molecular …, 2024 - Springer
Discoveries in the field of genomics have revealed that non-coding genomic regions are not
merely" junk DNA", but rather comprise critical elements involved in gene expression. These …

Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization

S Rosean, EA Sosa, D O'Shea, SM Raj, C Seoighe… - BMC …, 2024 - Springer
Background As genomic studies continue to implicate non-coding sequences in disease,
testing the roles of these variants requires insights into the cell type (s) in which they are …

[HTML][HTML] Prioritizing Cardiovascular Disease-Associated Variants Altering NKX2–5 Binding through an Integrative Computational Approach

EG Peña-Martínez, DA Pomales-Matos… - medRxiv, 2023 - ncbi.nlm.nih.gov
Cardiovascular diseases (CVDs) are the leading cause of death worldwide and are heavily
influenced by genetic factors. Genome-wide association studies (GWAS) have mapped> …

[PDF][PDF] Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients From North India

P Kukshal - 2024 - meddocsonline.org
Background: Globally 1% of the live births are affected by some form of congenital heart
anomaly. Genetics and environment both play a role in its causation but very little of these …