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The impact of , , and polymorphisms on tacrolimus dose-adjusted concentration and clinical outcomes in adult allogeneic hematopoietic stem cell transplantation.
Xenobiotica
January 2025
Department of Pharmacy, The Fourth Affiliated Hospital of Soochow University, Suzhou Dushu Lake Hospital, Medical Center of Soochow University, Suzhou, 215123, China.
1. Polymorphisms in genes related to drug-metabolizing genes may affect tacrolimus exposure. This study aimed to assess the influence of , , and polymorphisms on tacrolimus pharmacokinetics and outcomes in allogeneic hematopoietic stem cell transplantation (HSCT).
View Article and Find Full Text PDFHLA-E: Immune Receptor Functional Mechanisms Revealed by Structural Studies.
Immunol Rev
January 2025
Nuffield Department of Medicine, Center for Immuno-Oncology, University of Oxford, Oxford, UK.
HLA-E is a nonclassical, nonpolymorphic, class Ib HLA molecule. Its primary function is to present a conserved nonamer peptide, termed VL9, derived from the signal sequence of classical MHC molecules to the NKG2x-CD94 receptors on NK cells and a subset of T lymphocytes. These receptors regulate the function of NK cells, and the importance of this role, which is conserved across mammalian species, probably accounts for the lack of genetic polymorphism.
View Article and Find Full Text PDFSystematic functional characterization of non-coding regulatory SNPs associated with central obesity.
Am J Hum Genet
January 2025
Key Laboratory of Biomedical Information Engineering of Ministry of Education, Key Laboratory of Biology Multiomics and Diseases in Shaanxi Province Higher Education Institutions, Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, Shaanxi, China. Electronic address:
Central obesity is associated with higher risk of developing a wide range of diseases independent of overall obesity. Genome-wide association studies (GWASs) have identified more than 300 susceptibility loci associated with central obesity. However, the functional understanding of these loci is limited by the fact that most loci are in non-coding regions.
View Article and Find Full Text PDFTramadol-related fatalities: Metabolic ratios & SNPs/INDELs belonging to UGT1A8, UGT2B7, ABCC2, and SLC22A1.
Forensic Sci Int Genet
December 2024
CHU Lille, Unité Fonctionnelle de Toxicologie, Lille F-59000, France; Universite de Lille, ULR 4483 - IMPECS - IMPact de l'Environnement Chimique sur la Santé, Lille, France.
Genetic polymorphism can cause variation in tramadol (TR) pharmacokinetic characteristics and the expected clinical response. In forensic toxicology, the data about parent and metabolite concentrations (MRs; metabolic ratios) could facilitate to determine the cause of death and to assess time between drug intake and death. In this study, the aim was to investigate if UGT1A8, UGT2B7, ABCC2, and SLC22A1 genotyping can facilitate interpretation by investigating the frequency of UGT1A8, UGT2B7, ABCC2, and SLC22A1 genotypes in forensic autopsy cases positive for TR and to assess whether there is a correlation between these genetic variants and MRs.
View Article and Find Full Text PDFClonal phylogenies inferred from bulk, single cell, and spatial transcriptomic analysis of epithelial cancers.
PLoS One
January 2025
Nuffield Department of Surgical Sciences, University of Oxford, Oxford, United Kingdom.
Epithelial cancers are typically heterogeneous with primary prostate cancer being a typical example of histological and genomic variation. Prior studies of primary prostate cancer tumour genetics revealed extensive inter and intra-patient genomic tumour heterogeneity. Recent advances in machine learning have enabled the inference of ground-truth genomic single-nucleotide and copy number variant status from transcript data.
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