A catalog of GWAS fine-map** efforts in autoimmune disease

M Caliskan, CD Brown, JC Maranville - The American Journal of Human …, 2021 - cell.com
Genome-wide association studies (GWASs) have enabled unbiased identification of genetic
loci contributing to common complex diseases. Because GWAS loci often harbor many …

CD58 Immunobiology at a Glance

Y Zhang, Q Liu, S Yang, Q Liao - Frontiers in immunology, 2021 - frontiersin.org
The glycoprotein CD58, also known as lymphocyte-function antigen 3 (LFA-3), is a
costimulatory receptor distributed on a broad range of human tissue cells. Its natural ligand …

SNPs in sites for DNA methylation, transcription factor binding, and miRNA targets leading to allele-specific gene expression and contributing to complex disease risk …

M Vohra, AR Sharma, N Prabhu B, PS Rai - Public Health Genomics, 2021 - karger.com
Introduction: The complex genetic diversity among human populations results from an
assortment of factors acting at various sequential levels, including mutations, population …

Methods for functional characterization of genetic polymorphisms of non-coding regulatory regions of the human genome

AN Uvarova, EA Tkachenko, EM Stasevich… - Biochemistry …, 2024 - Springer
Currently, numerous associations between genetic polymorphisms and various diseases
have been characterized through the Genome-Wide Association Studies. Majority of the …

EGR1 and RXRA transcription factors link TGF-β pathway and CCL2 expression in triple negative breast cancer cells

AM Gorbacheva, AN Uvarova, AS Ustiugova… - Scientific Reports, 2021 - nature.com
Transforming growth factor beta (TGF-β) is the main cytokine responsible for the induction of
the epithelial-mesenchymal transition of breast cancer cells, which is a hallmark of tumor …

Genome-wide DNA methylation profiling identifies epigenetic changes in CD4+ and CD14+ cells of multiple sclerosis patients

I Kiselev, L Danilova, N Baulina, O Baturina… - Multiple Sclerosis and …, 2022 - Elsevier
Multiple sclerosis (MS) is a chronic autoimmune and degenerative disease of the central
nervous system, which develops in genetically predisposed individuals upon exposure to …

[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.

KV Korneev, EN Sviriaeva, NA Mitkin… - … et Biophysica Acta (BBA …, 2020 - Elsevier
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 …

Functional genomics of autoimmune diseases

A Suzuki, MM Guerrini, K Yamamoto - Annals of the Rheumatic …, 2021 - ard.bmj.com
For more than a decade, genome-wide association studies have been applied to
autoimmune diseases and have expanded our understanding on the pathogeneses …

The Risk G Allele of the Single-Nucleotide Polymorphism rs928413 Creates a CREB1-Binding Site That Activates IL33 Promoter in Lung Epithelial Cells

AM Gorbacheva, KV Korneev, DV Kuprash… - International Journal of …, 2018 - mdpi.com
Cytokine interleukin 33 (IL-33) is constitutively expressed by epithelial barrier cells, and
promotes the development of humoral immune responses. Along with other proinflammatory …

[HTML][HTML] Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs

XF Chen, MR Guo, YY Duan, F Jiang, H Wu, SS Dong… - JCI insight, 2020 - ncbi.nlm.nih.gov
More than 90% of autoimmune-associated variants are located in noncoding regions,
leading to challenges in deciphering the underlying causal roles of functional variants and …