Alternative cleavage and polyadenylation in health and disease

AJ Gruber, M Zavolan - Nature Reviews Genetics, 2019 - nature.com
Most human genes have multiple sites at which RNA 3ʹ end cleavage and polyadenylation
can occur, enabling the expression of distinct transcript isoforms under different conditions …

Alternative polyadenylation of mRNA precursors

B Tian, JL Manley - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative polyadenylation (APA) is an RNA-processing mechanism that generates distinct
3′ termini on mRNAs and other RNA polymerase II transcripts. It is widespread across all …

An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability

L Li, KL Huang, Y Gao, Y Cui, G Wang, ND Elrod, Y Li… - Nature …, 2021 - nature.com
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …

Type I interferon in rheumatic diseases

TLW Muskardin, TB Niewold - Nature reviews rheumatology, 2018 - nature.com
The type I interferon pathway has been implicated in the pathogenesis of a number of
rheumatic diseases, including systemic lupus erythematosus, Sjögren syndrome, myositis …

Network biology concepts in complex disease comorbidities

JX Hu, CE Thomas, S Brunak - Nature Reviews Genetics, 2016 - nature.com
The co-occurrence of diseases can inform the underlying network biology of shared and
multifunctional genes and pathways. In addition, comorbidities help to elucidate the effects …

[HTML][HTML] Pathogenesis of systemic sclerosis

D Pattanaik, M Brown, BC Postlethwaite… - Frontiers in …, 2015 - frontiersin.org
Systemic scleroderma (SSc) is one of the most complex systemic autoimmune diseases. It
targets the vasculature, connective tissue-producing cells (namely fibroblasts/myofibroblasts …

Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis

C Mohan, C Putterman - Nature Reviews Nephrology, 2015 - nature.com
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder that has a broad
spectrum of effects on the majority of organs, including the kidneys. Approximately 40–70 …

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome

CJ Lessard, H Li, I Adrianto, JA Ice, A Rasmussen… - Nature …, 2013 - nature.com
Sjögren's syndrome is a common autoimmune disease (affecting∼ 0.7% of European
Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we …

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

EA Stahl, S Raychaudhuri, EF Remmers, G Xie… - Nature …, 2010 - nature.com
To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide
association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid …

[HTML][HTML] Alternative splicing: a new cause and potential therapeutic target in autoimmune disease

P Ren, L Lu, S Cai, J Chen, W Lin, F Han - Frontiers in Immunology, 2021 - frontiersin.org
Alternative splicing (AS) is a complex coordinated transcriptional regulatory mechanism. It
affects nearly 95% of all protein-coding genes and occurs in nearly all human organs …