HLA-C*15:02:01:69Q differs from HLA-C*15:02:01:01 by a single substitution at the genomic nucleotide position 2727 in intron 7.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/tan.70126 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic factors contribute to the development of metabolic syndrome and subsequent arterial hypertension (AH). The study of the T786C polymorphism of the endothelial nitric oxide synthase (eNOS) gene in arterial hypertension is important as its correlation with adipokine imbalance is a novelty area to find associations between hypertension development, obesity, and heredity. The purpose of the current study was to investigate serum adipokines levels, depending on the T786C polymorphism of the eNOS in patients with arterial hypertension.
View Article and Find Full Text PDFSingle-cell eQTL mapping in yeast reveals a tradeoff between growth and reproduction.
Elife
March 2025
Department of Human Genetics, University of California, Los Angeles, Los Angeles, United States.
Expression quantitative trait loci (eQTLs) provide a key bridge between noncoding DNA sequence variants and organismal traits. The effects of eQTLs can differ among tissues, cell types, and cellular states, but these differences are obscured by gene expression measurements in bulk populations. We developed a one-pot approach to map eQTLs in by single-cell RNA sequencing (scRNA-seq) and applied it to over 100,000 single cells from three crosses.
View Article and Find Full Text PDFA telomere-to-telomere phased genome of an octoploid strawberry reveals a receptor kinase conferring anthracnose resistance.
Gigascience
January 2025
Horticultural Sciences Department, University of Florida, IFAS Gulf Coast Research and Education Center, Wimauma, FL, 33598, USA.
Background: Cultivated strawberry (Fragaria xananassa Duch.), an allo-octoploid species arising from at least 3 diploid progenitors, poses a challenge for genomic analysis due to its high levels of heterozygosity and the complex nature of its polyploid genome.
Results: This study developed the complete haplotype-phased genome sequence from a short-day strawberry, 'Florida Brilliance' without parental data, assembling 56 chromosomes from telomere to telomere.
Effects of HLA-DRA, HLA-DQA1 and IL-6 Gene Variations to Glatiramer Acetate Resistance in Multiple Sclerosis Patients.
Biochem Genet
March 2025
Department of Medical Biology, Faculty of Medicine, Yeditepe University, Istanbul, Turkey.
Multiple sclerosis (MS) is among the most common autoimmune disorders and is characterized by inflammation and degeneration affecting the central nervous system. Glatiramer acetate (GA) is an immunomodulatory drug utilized for treating relapsing-remitting MS. However, a considerable number of patients do not exhibit an appropriate response to this drug.
View Article and Find Full Text PDFGermline variants in CDKN2A wild-type melanoma prone families.
Mol Oncol
March 2025
Department of Clinical Science, K.G. Jebsen Center for Genome-Directed Cancer Therapy, University of Bergen, Bergen, Norway.
Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic variants in other genes have also been linked to melanoma, most familial cases remain unexplained. We assessed pathogenic germline variants in 360 cancer-related genes in 56 Norwegian melanoma-prone families.
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!