The structural identification of a new delta chain variant is described. The abnormal Hb A2 was found in two members of a family from Zagreb, Yugoslavia. The propositus also had a delta beta-thalassemia heterozygosity.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3109/03630268309038413 | DOI Listing |
Genet Epidemiol
January 2025
Division of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, USA.
Polyunsaturated fatty acids (PUFAs) including omega-3 and omega-6 are obtained from diet and can be measured objectively in plasma or red blood cells (RBCs) membrane biomarkers, representing different dietary exposure windows. In vivo conversion of omega-3 and omega-6 PUFAs from short- to long-chain counterparts occurs via a shared metabolic pathway involving fatty acid desaturases and elongase. This analysis leveraged genome-wide association study (GWAS) summary statistics for RBC and plasma PUFAs, along with expression quantitative trait loci (eQTL) to estimate tissue-specific genetically predicted gene expression effects for delta-5 desaturase (FADS1), delta-6 desaturase (FADS2), and elongase (ELOVL2) on changes in RBC and plasma biomarkers.
View Article and Find Full Text PDFSci Total Environ
January 2025
Department of Natural Resource Sciences, McGill University, Sainte-Anne-de-Bellevue, QC H9X 3V9, Canada. Electronic address:
Mercury (Hg) and persistent organic pollutant (POP) accumulation among species and biomagnification through food webs is typically assessed using stable isotopes of nitrogen (δN) and carbon (δC) in bulk (whole) tissues. Yet, bulk isotopic approaches have limitations, notably from the potential overlap of isotope values from different dietary sources and from spatial variation in source (baseline) signals. Here, we explore the potential of fatty acid carbon isotopes (FA δC) to (1) evaluate the trophic structure of a marine food web, (2) distinguish feeding patterns among four marine mammal consumers, (3) trace contaminant biomagnification through a food web, and (4) explain interspecific variation in contaminants among high-trophic position predators.
View Article and Find Full Text PDFJACC Clin Electrophysiol
December 2024
Physiology, Amsterdam Cardiovascular Sciences, Heart Failure, and Arrhythmias, Amsterdam University Medical Center, location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands. Electronic address:
Background: Atrial fibrillation (AF) persistence is associated with molecular remodeling that fuels electrical conduction abnormalities in atrial tissue. Previous research revealed DNA damage as a molecular driver of AF.
Objectives: This study sought to explore the diagnostic value of DNA damage in atrial tissue and blood samples as an indicator of the prevalence of electrical conduction abnormalities and stage of AF.
RSC Med Chem
January 2025
Infectious Diseases Division, CSIR - Indian Institute of Integrative Medicine Jammu-180001 India
Unveiling novel pathways for drug discovery forms the foundation of a new era in the combat against tuberculosis. The discovery of a novel drug, bedaquiline, targeting mycobacterial ATP synthase highlighted the targetability of the energy metabolism pathway. The significant potency of bedaquiline against heterogeneous population of marks ATP synthase as an important complex of the electron transport chain.
View Article and Find Full Text PDFObjectives: To identify cuproptosis- and ferroptosis-related genes involved in nonalcoholic fatty liver disease and to determine the diagnostic value of hub genes.
Methods: The gene expression dataset GSE89632 was retrieved from the Gene Expression Omnibus database to identify differentially expressed genes (DEGs) between the non-alcoholic steatohepatitis (NASH) group and the healthy group using the 'limma' package in R software and weighted gene co-expression network analysis. Gene ontology, kyoto encyclopedia of genes and genomes pathway, and single-sample gene set enrichment analyses were performed to identify functional enrichment of DEGs.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!