Alternative cleavage and polyadenylation in health and disease
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 …
can occur, enabling the expression of distinct transcript isoforms under different conditions …
Alternative polyadenylation of mRNA precursors
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 …
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
Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …
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 …
rheumatic diseases, including systemic lupus erythematosus, Sjögren syndrome, myositis …
Network biology concepts in complex disease comorbidities
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 …
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 …
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 …
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
Sjögren's syndrome is a common autoimmune disease (affecting∼ 0.7% of European
Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we …
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 …
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 …
affects nearly 95% of all protein-coding genes and occurs in nearly all human organs …