Single-cell multi-modal integrative analyses highlight functional dynamic gene regulatory networks directing human cardiac development

AR Holman, S Tran, E Destici, EN Farah, T Li… - Cell Genomics, 2024 - cell.com
Illuminating the precise stepwise genetic programs directing cardiac development provides
insights into the mechanisms of congenital heart disease and strategies for cardiac …

A review on gene regulatory network reconstruction algorithms based on single cell RNA sequencing

H Kim, H Choi, D Lee, J Kim - Genes & Genomics, 2024 - Springer
Background Understanding gene regulatory networks (GRNs) is essential for unraveling the
molecular mechanisms governing cellular behavior. With the advent of high-throughput …

Exploring SCN5A variants associated with atrial fibrillation in atrial cardiomyocytes derived from human induced pluripotent stem cells: A characterization study

M Pierre, M Djemai, V Pouliot, H Poulin, MH Gollob… - Heart Rhythm, 2024 - Elsevier
Background Atrial fibrillation (AF) poses a major risk for heart failure, myocardial infarction,
and stroke. Several studies have linked SCN5A variants to AF, but their precise mechanistic …

[HTML][HTML] Uncovering co-regulatory modules and gene regulatory networks in the heart through machine learning-based analysis of large-scale epigenomic data

N Vahab, T Bonu, L Kuhlmann, M Ramialison… - Computers in Biology …, 2024 - Elsevier
The availability of large-scale epigenomic data from various cell types and conditions has
yielded valuable insights for evaluating and learning features predicting the co-binding of …

Unraveling a novel dual-function regulatory element showing epistatic interaction with a variant that escapes genome-wide association studies.

M Adjemout, S Nisar, A Escandell, HTN Huu, M Torres… - bioRxiv, 2024 - biorxiv.org
Regulation of gene expression has recently been complexified by the identification of
Epromoters, a subset of promoters with enhancer function. Here, we uncovered the first dual …

[HTML][HTML] Analysis of the CHD7 gene mutations in patients of congenital heart disease with extracardiac malformations

X Huang, H Gao, W Chen, Z Feng, C Tan… - Translational …, 2023 - ncbi.nlm.nih.gov
Background Congenital heart disease (CHD) is a common birth defect, and is frequently
accompanied with extracardiac malformations (ECM). Uncovering the genetic etiology of …

Cardiac Structural and Functional Consequences of the Desmin p. R406W Mutation

M Geryk - 2024 - theses.hal.science
Desmin related myopathy, or desminopathy, is a rare genetic disorder caused by mutations
in the intermediate filament desmin. Desmin interconnects several components of the cell …

Investigating cardiomyocyte dysfunction in dilated cardiomyopathy associated with Duchenne muscular dystrophy

D Wilson - 2024 - qmro.qmul.ac.uk
Mutations within the DMD gene are responsible for the severe, X-linked inherited disease
Duchenne muscular dystrophy (DMD). DMD is characterised by the absence of the …