Results 71 to 80 of about 833,983 (263)

Genome-wide association study of behavioural and psychiatric features in human prion disease. [PDF]

, 2015
Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C, Collinge, J, Lowe, J, Lukic, A, MacKay, A, Mead, S, Porter, MC, Rudge, P, Thompson, AG, Uphill, J   +9 more
core   +1 more source

Identification of novel drug targets for multiple sclerosis by integrating plasma genetics and proteomes

Experimental Gerontology
Background: Genome-wide association studies (GWAS) have revealed numerous loci associated with multiple sclerosis (MS). However, the challenge lies in deciphering the mechanisms by which these loci influence the target traits.
Yi Liu, Qian Wang, Yuhui Zhao, Liu Liu, Jingxi Hu, Yao Qiao, Jinyi Chen, Chao Qin   +7 more
doaj   +1 more source

The Human Microbiome and the Missing Heritability Problem

Frontiers in Genetics, 2017
The “missing heritability” problem states that genetic variants in Genome-Wide Association Studies (GWAS) cannot completely explain the heritability of complex traits.
Santiago Sandoval-Motta, Maximino Aldana, Maximino Aldana, Esperanza Martínez-Romero, Alejandro Frank, Alejandro Frank, Alejandro Frank   +6 more
doaj   +1 more source

Identifying and Exploring the Candidate Susceptibility Genes of Cirrhosis Using the Multi-Tissue Transcriptome-Wide Association Study

Frontiers in Genetics, 2022
Objective: We identify and explore the candidate susceptibility genes for cirrhosis and their underlying biological mechanism.Methods: We downloaded the genome-wide association studies summary data of 901 cirrhosis cases and 451,363 controls and ...
Xiao-Bo Zhu, Yu-Qing Hou, Xiang-Yu Ye, Yi-Xin Zou, Xue-Shan Xia, Sheng Yang, Peng Huang, Rong-Bin Yu   +7 more
doaj   +1 more source

Genome-wide association studies in ADHD [PDF]

Human Genetics, 2009
Attention-deficit/hyperactivity disorder, ADHD, is a common and highly heritable neuropsychiatric disorder that is seen in children and adults. Although heritability is estimated at around 76%, it has been hard to find genes underlying the disorder. ADHD is a multifactorial disorder, in which many genes, all with a small effect, are thought to cause ...
Franke, Barbara, Faraone, Stephen V., Neale, Benjamin   +2 more
openaire   +4 more sources

Genome-wide Association Study for AKI

Kidney360, 2023
Key Points Two genetic variants in the DISP1-TLR5 gene locus were associated with risk of AKI.DISP1 and TLR5 were differentially regulated in kidney biopsy tissue from patients with AKI compared with no AKI. Background
Pavan K. Bhatraju, Ian B. Stanaway, Melody R. Palmer, Rajasree Menon, Jennifer A. Schaub, Steven Menez, Anand Srivastava, F. Perry Wilson, Krzysztof Kiryluk, Paul M. Palevsky, Abhijit S. Naik, Sana S. Sakr, Gail P. Jarvik, Chirag R. Parikh, Lorraine B. Ware, T. Alp Ikizler, Edward D. Siew, Vernon M. Chinchilli, Steve G. Coca, Amit X. Garg, Alan S. Go, James S. Kaufman, Paul L. Kimmel, Jonathan Himmelfarb, Mark M. Wurfel   +24 more
openaire   +2 more sources

Crosstalk between the ribosome quality control‐associated E3 ubiquitin ligases LTN1 and RNF10

FEBS Letters, EarlyView.
Loss of the E3 ligase LTN1, the ubiquitin‐like modifier UFM1, or the deubiquitinating enzyme UFSP2 disrupts endoplasmic reticulum–ribosome quality control (ER‐RQC), a pathway that removes stalled ribosomes and faulty proteins. This disruption may trigger a compensatory response to ER‐RQC defects, including increased expression of the E3 ligase RNF10 ...
Yuxi Huang, Satoshi Hashimoto, Sota Ito, Chisato Kikuguchi, Miho Hoshi, Kiyoshi Yamaguchi, Yoichi Furukawa, Toru Suzuki, Toshifumi Inada   +8 more
wiley   +1 more source

Gene-centric characteristics of genome-wide association studies. [PDF]

PLoS ONE, 2007
BACKGROUND: The high-throughput genotyping chips have contributed greatly to genome-wide association (GWA) studies to identify novel disease susceptibility single nucleotide polymorphisms (SNPs).
Changzheng Dong, Ziliang Qian, Peilin Jia, Ying Wang, Wei Huang, Yixue Li   +5 more
doaj   +1 more source

Interplay between circadian and other transcription factors—Implications for cycling transcriptome reprogramming

FEBS Letters, EarlyView.
This perspective highlights emerging insights into how the circadian transcription factor CLOCK:BMAL1 regulates chromatin architecture, cooperates with other transcription factors, and coordinates enhancer dynamics. We propose an updated framework for how circadian transcription factors operate within dynamic and multifactorial chromatin landscapes ...
Xinyu Y. Nie, Jerome S. Menet
wiley   +1 more source

Genome-wide Association Studies in Alzheimer’s Disease: A Review [PDF]

, 2013
Over the past decade, research aiming to disentangle the genetic underpinnings of late-onset Alzheimer’s disease has mostly focused on the identification of common variants through genome-wide association studies.
Christiane Reitz, Giuseppe Tosto
core   +1 more source