AI Article Synopsis
- - A notable number of patients with heterotaxy experience mismatched arrangements in their abdominal organs, lungs, and atrial structures, highlighting intriguing variations in the influence of ciliary and laterality genes on different body parts.
- - Defects in these genes, which typically cause conditions like situs inversus and heterotaxy, can sometimes affect different sections of the heart separately, even when the overall arrangement of organs appears normal (situs solitus).
- - Some patients with typical organ arrangement but with heart conditions like transposition of great arteries exhibit changes due to partial effects of laterality gene alterations, demonstrating the complex relationship between genetic defects and organ positioning.
Article Abstract
A significant percentage of patients with heterotaxy show disharmony between abdominal, bronchopulmonary and atrial situs. This finding is interesting in light of the variable effects of ciliary and laterality genes on different organs and different cardiac segments. Defects in ciliary and laterality genes that usually result in situs inversus or heterotaxy, may occasionally act separately at ventricular and/or great arteries segment, even in patients with normal viscero-atrial situs solitus. Some patients with situs solitus and transposition of great arteries or congenitally corrected transposition of great arteries have been shown to represent the result of partial segmental effects of laterality genes alterations. Specific effects of defects in laterality genes can explain disharmony between thoraco-abdominal organs and heart segments.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00246-024-03639-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Effects of Paradoxical Sleep Deprivation on MCH and Hypocretin Systems.
Sleep Sci
December 2024
Departamento de Psicobiologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Melanin-concentrating hormone (MCH) and hypocretins (Hcrt) 1 and 2 are neuropeptides synthesized in the lateral hypothalamic area by neurons that are critical in the regulation of sleep and wakefulness. Their receptors are located in the same cerebral regions, including the frontal cortex and hippocampus. The present study aimed to assess whether 96 hours of paradoxical sleep deprivation alters the functioning of the MCH and hypocretin systems.
View Article and Find Full Text PDFRapid detection of SARS-CoV-2 RNA using a one-step fast multiplex RT-PCR coupled to lateral flow immunoassay.
BMC Infect Dis
December 2024
Laboratory of Molecular Epidemiology and Experimental Pathology, LR16IPT04, Institut Pasteur de Tunis, University of Tunis El Manar, Tunis, LR16IPT04, Tunisia.
Background: The COVID-19 has put emphasis on pivotal needs for diagnosis and surveillance worldwide, with the subsequent shortage of diagnostic reagents and kits. Therefore, it has become strategic for the countries to access diagnostics, expand testing capacity, and develop their own diagnostic capabilities and alternative rapid accurate nucleic acid diagnostics that are at lower costs. Here, we propose a visual SARS-CoV-2 detection using a one-step fast multiplex reverse transcription-PCR (RT-PCR) amplification coupled to lateral flow immunoassay detection on a PCRD device (Abingdon Health, UK).
View Article and Find Full Text PDFNucleosome fibre topology guides transcription factor binding to enhancers.
Nature
December 2024
Institute of Regeneration and Repair, Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
Cellular identity requires the concerted action of multiple transcription factors (TFs) bound together to enhancers of cell-type-specific genes. Despite TFs recognizing specific DNA motifs within accessible chromatin, this information is insufficient to explain how TFs select enhancers. Here we compared four different TF combinations that induce different cell states, analysing TF genome occupancy, chromatin accessibility, nucleosome positioning and 3D genome organization at the nucleosome resolution.
View Article and Find Full Text PDFExploring PDE5A upregulation in bipolar disorder: insights from single-nucleus RNA sequencing of human basal ganglia.
Transl Psychiatry
December 2024
Department of Human Anatomy & Histoembryology, School of Basic Medical Sciences, Fudan University, Shanghai, China.
Basal ganglia is proposed to mediate symptoms underlying bipolar disorder (BD). To understand the cell type-specific gene expression and network changes of BD basal ganglia, we performed single-nucleus RNA sequencing of 30,752 nuclei from caudate, putamen, globus pallidus, and substantia nigra of control human postmortem brain and 24,672 nuclei from BD brain. Differential expression analysis revealed major difference lying in caudate, with BD medium spiny neurons (MSNs) expressing significantly higher PDE5A, a cGMP-specific phosphodiesterase.
View Article and Find Full Text PDFInferring gene regulatory networks of ALS from blood transcriptome profiles.
Heliyon
December 2024
Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
One of the most robust approaches to the prediction of causal driver genes of complex diseases is to apply reverse engineering methods to infer a gene regulatory network (GRN) from gene expression profiles (GEPs). In this work, we analysed 794 GEPs of 1117 human whole-blood samples from Amyotrophic Lateral Sclerosis (ALS) patients and healthy subjects reported in the GSE112681 dataset. GRNs for ALS and healthy individuals were reconstructed by ARACNe-AP (Algorithm for the Reconstruction of Accurate Cellular Networks - Adaptive Partitioning).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!