The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases
AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
HOCOMOCO: towards a complete collection of transcription factor binding models for human and mouse via large-scale ChIP-Seq analysis
IV Kulakovskiy, IE Vorontsov, IS Yevshin… - Nucleic acids …, 2018 - academic.oup.com
We present a major update of the HOCOMOCO collection that consists of patterns
describing DNA binding specificities for human and mouse transcription factors. In this …
describing DNA binding specificities for human and mouse transcription factors. In this …
Analysis of herpesvirus infection and genome single nucleotide polymorphism risk factors in multiple sclerosis, Volga federal district, Russia
V Lezhnyova, Y Davidyuk, A Mullakhmetova… - Frontiers in …, 2022 - frontiersin.org
Multiple sclerosis (MS) is a heterogeneous disease where herpesvirus infection and genetic
predisposition are identified as the most consistent risk factors. Serum and blood samples …
predisposition are identified as the most consistent risk factors. Serum and blood samples …
[HTML][HTML] Minor C allele of the SNP rs7873784 associated with rheumatoid arthritis and type-2 diabetes mellitus binds PU. 1 and enhances TLR4 expression.
Abstract Toll-like receptor 4 (TLR4) is an innate immunity receptor predominantly expressed
on myeloid cells and involved in the development of various diseases, many of them with …
on myeloid cells and involved in the development of various diseases, many of them with …
[HTML][HTML] Analysis of single nucleotide polymorphisms in HLA-DRA, IL2RA, and HMGB1 genes in multiple sclerosis
M Asouri, HA Rokni, MA Sahraian… - … of Biochemistry & …, 2020 - ncbi.nlm.nih.gov
Background: Multiple sclerosis (MS) is a common demyelinating neurodegenerative
disorder with significant heritability. Previous studies have associated genetic variants in …
disorder with significant heritability. Previous studies have associated genetic variants in …
Severe chronic kidney disease environment reduced calcium-sensing receptor expression in parathyroid glands of adenine-induced rats even without high …
T Uchiyama, I Ohkido, A Nakashima, Y Saito, M Okabe… - BMC nephrology, 2020 - Springer
Background Chronic kidney disease (CKD) disrupts mineral homeostasis and its main
underlying cause is secondary hyperparathyroidism (SHPT). We previously reported that …
underlying cause is secondary hyperparathyroidism (SHPT). We previously reported that …
Reworking GWAS data to understand the role of nongenetic factors in MS etiopathogenesis
R Mechelli, R Umeton, G Manfrè, S Romano… - Genes, 2020 - mdpi.com
Genome-wide association studies have identified more than 200 multiple sclerosis (MS)-
associated loci across the human genome over the last decade, suggesting complexity in …
associated loci across the human genome over the last decade, suggesting complexity in …
The GALNT14 Genotype Predicts Postoperative Outcome of Pancreatic Ductal Adenocarcinoma
Pancreatic ductal adenocarcinoma (PDA) is notorious for its poor prognosis. The current
mainstay of treatment for PDA is surgical resection followed by adjuvant chemotherapy …
mainstay of treatment for PDA is surgical resection followed by adjuvant chemotherapy …
Investigating the Role of Noncoding De Novo Single-Nucleotide Variants in Autism Spectrum Disorder
C Castro - 2023 - deepblue.lib.umich.edu
Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental
condition characterized by challenges with communication, social interaction, and behavior …
condition characterized by challenges with communication, social interaction, and behavior …