Results 121 to 130 of about 40,713,960 (307)

Unraveling genotype–phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis

open access: yesBMC Genomics
Background Type I hereditary hemochromatosis (HH), caused by pathogenic HFE variants, is among the most common autosomal recessive disorders in Northern Europe.
Miriam Nurm   +8 more
doaj   +1 more source

‘Guide and Prejudice’— How Argonautes recognize targets across domains of life

open access: yesFEBS Letters, EarlyView.
Argonaute proteins use short nucleic‐acid guides to locate and regulate specific targets across all domains of life. Despite striking diversity—from human gene silencing to bacterial immune defence—all Argonautes share a conserved three‐stage recognition logic: guide‐directed sampling, progressive target pairing with a conformational checkpoint and ...
Jack P. K. Bravo
wiley   +1 more source

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies [PDF]

open access: yes, 2012
<p>Background - Various genome-wide association studies (GWAS) have been done in ischaemic stroke, identifying a few loci associated with the disease, but sample sizes have been 3500 cases or less.
Furie, K.   +403 more
core   +2 more sources

Chapter 11: Genome-Wide Association Studies

open access: yesPLoS Computational Biology, 2012
Genome-wide association studies (GWAS) have evolved over the last ten years into a powerful tool for investigating the genetic architecture of human disease. In this work, we review the key concepts underlying GWAS, including the architecture of common diseases, the structure of common human genetic variation, technologies for capturing genetic ...
William S. Bush, Jason H. Moore
openaire   +5 more sources

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

open access: yesFEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Genome-wide association and functional follow-up reveals new loci for kidney function [PDF]

open access: yes, 2012
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new
Döring, Angela   +999 more
core   +2 more sources

TIMP4 as a Potential Complementary Biomarker and Therapeutic Target in Membranous Nephropathy: A Multi-Omics Investigation with Clinical Validation

open access: yesJournal of Inflammation Research
Qingsong Chen, Gang Wang, Ruo Zhao, Qiyuan Hu, Jiayun Li, Yuting Wang, Jingyang Ran, Qi Huang, Guiquan Yu, Yanjia Luo, Xiaohui Liao Department of Nephrology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, People’s Republic of ...
Chen Q   +10 more
doaj  

Comprehensive Evidence for Mortality and Underlying Morbidity Related to Visceral Fat Distribution

open access: yesMed Research
Linking obesity to mortality is an intriguing and controversial topic. This study tried to comprehensively assess 8 adiposity surrogates and mortality association among middle‐to‐old‐aged adults to identify a superior one, and explore explanatory ...
Haolong Zhou   +11 more
doaj   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

open access: yesMolecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera   +11 more
wiley   +1 more source

Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. [PDF]

open access: yes, 2011
Hypovolemic shock (dengue shock syndrome (DSS)) is the most common life-threatening complication of dengue. We conducted a genome-wide association study of 2,008 pediatric cases treated for DSS and 2,018 controls from Vietnam.
Simmons, C   +119 more
core   +1 more source

Home - About - Disclaimer - Privacy