Results 161 to 170 of about 48,393 (270)

Loss of Chromosome Y Associates With Altered Immune Cell Trajectories and X‐Inactivation Features

Aging Cell, Volume 25, Issue 5, May 2026.
Loss of chromosome Y in male leukocytes exhibits cell type‐specific effects on immune cell phenotypes and transcriptional profiles along differentiation trajectories. LOY is associated with profibrotic monocyte signatures and aberrant X‐inactivation gene expression, highlighting links to immune dysfunction and age‐related diseases in men.
Ahmed Dawoud, Luke Green, Owen Rackham
wiley   +1 more source

DNA Methylation Regulates CDK5R1 and NRBP1 to Exert Effects on Alcohol Dependence: Insights From Mendelian Randomization

Addiction Biology, Volume 31, Issue 5, May 2026.
This study employed integrative Mendelian Randomization analysis to identify 10 drug‐targetable genes with altered expression in alcohol dependence. Colocalization evidence suggests shared causal variants. Crucially, DNA methylation at specific sites (cg07437263, cg05102552) mediates risk by upregulating the protective gene CDK5R1 (63.92%) and ...
Fuyuan Deng, Junsheng Peng, Siran Lai, Guangpeng Zhang, Miaomiao Li, Yuxin Huang, Mi Yuan, Gaolei Yao, Peiming Zhang, Liming Lu   +9 more
wiley   +1 more source

SNPs-GWAS-eQTLs Introduction

, 2015
This lecture gives an easy introduction to SNP, GWAS & eQTL and is part of a bioinformatics workshop. The accompanying websites are available at http://sschmeier.github.io/bioinf-workshop/#!galaxy-intro/
openaire   +1 more source

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High‐Altitude Adaptive Genetic Variants in Sherpa Highlanders

Annals of Human Genetics, Volume 90, Issue 3, Page 202-214, May 2026.
ABSTRACT Background and Aims Sherpa highlanders exhibit remarkable tolerance to hypoxia, most likely due to genetic adaptations shaped by natural selection at high altitude. This study examined the roles of endothelial PAS domain protein 1 (EPAS1) and egl‐9 family hypoxia‐inducible factor 1 (EGLN1) in the genetic mechanisms underlying this adaptation ...
Yunden Droma, Fengming Yue, Masao Ota, Nobumitsu Kobayashi, Yoshiaki Kitaguchi, Masayuki Hanaoka   +5 more
wiley   +1 more source

Evaluating the Impact of Putative Metformin Targets on Cancer Outcomes: A Drug‐Target Mendelian Randomization Study

Diabetes, Obesity and Metabolism, Volume 28, Issue 5, Page 4091-4099, May 2026.
ABSTRACT Aims Observational studies show metformin use associated with lower cancer risk, although experimental evidence is inconsistent. To provide genetic validation for repositioning of metformin in cancer prevention, we assessed genetically proxied effects of putative metformin targets on cancer outcomes using a drug‐target Mendelian randomization (
Xingyu Shen, Shan Luo, Jie Zheng, Celine Sze Ling Chui, Ian Chi Kei Wong, Eric Yuk Fai Wan, Catherine Mary Schooling, Shiu Lun Au Yeung   +7 more
wiley   +1 more source

Whole Blood Transcriptomic Analysis of Sickle Cell Trait

European Journal of Haematology, Volume 116, Issue 5, Page 535-544, May 2026.
ABSTRACT Sickle cell trait (SCT) is the heterozygous carrier state for the HBB missense variant which causes sickle cell disease (SCD). SCT has been associated with increased risk of venous thromboembolism and chronic kidney disease as well as alterations in clinical laboratory parameters. To investigate differential gene expression in SCT, we used RNA
Mari Johnson, Yanwei Cai, Ana Gabriela Vasconcelos, Peter Orchard, Paul L. Auer, Guillaume Lettre, Jia Wen, Nora Franceschini, Charles Kooperberg, Wei Sun, Li Hsu, Laura M. Raffield, Alex P. Reiner   +12 more
wiley   +1 more source

eQTL-Detect: nextflow-based pipeline for eQTL detection in modular format with sharable and parallelizable scripts

NAR Genomics and Bioinformatics
Abstract Bioinformatic pipelines are becoming increasingly complex with the ever-accumulating amount of Next-generation sequencing (NGS) data. Their orchestration is difficult with a simple Bash script, but bioinformatics workflow managers such as Nextflow provide a framework to overcome respective problems.
Chitneedi, Praveen Krishna, Hadlich, Frieder, Moreira, Gabriel C. M., Espinosa-Carrasco, Jose, Li, Changxi, Plastow, Graham, Fischer, Daniel, Charlier, Carole, Rocha, Dominique, Chamberlain, Amanda J., Kuehn, Christa   +10 more
openaire   +4 more sources

Why Is MS a More Frequent Complication of EBV Infection in Females?

Immunological Reviews, Volume 339, Issue 1, May 2026.
ABSTRACT Multiple sclerosis (MS) is a T helper (Th) cell‐mediated disease that targets central nervous system (CNS) white matter. This disease affects three times more females than males. For many years, the etiology of MS was not well understood and the exact nature of the autoimmune reaction was speculative.
Shannon E. Dunn, Nuria Alvarez‐Sanchez, Lawrence Steinman   +2 more
wiley   +1 more source

The C2H2‐GGAT Regulatory Module Fine‐Tunes Glutamate Homeostasis to Improve Fruit Flavour and Enhance Disease Resistance in Peach

Plant Biotechnology Journal, Volume 24, Issue 5, Page 3282-3295, May 2026.
ABSTRACT Free amino acids (FAAs) play a fundamental role in determining fruit quality and stress adaptation, yet their genetic regulation remains poorly understood. Through an integrated approach combining metabolomic and sensory analyses of 120 peach (Prunus persica) hybrids, we identified glutamate as a key metabolite linking FAA content to umami ...
Yike Su, Xiaojuan Yang, Chanyuan Wu, Xianyao Jin, Yuanyuan Zhang, Yuyan Zhang, Kunsong Chen, Mingliang Yu, Bo Zhang   +8 more
wiley   +1 more source

eQTL Detector; an automated pipeline for eQTL mapping and downstream analysis

, 2020
L'accés a tecnologies de genotipat tant d'ADN com ARN han obert una nou paradigma en el mapatge de caràcters complexos, aquestes estan basades en l'avaluació de la interacció del genotip i altres variables com a metilacions, proteïnes o nivells d'expressió genètica, en relació a aquesta última variable, els denominats QTL d'expressió (eQTL) tracten de ...
openaire   +1 more source