Pathogenesis of systemic lupus erythematosus: risks, mechanisms and therapeutic targets

MK Crow - Annals of the rheumatic diseases, 2023 - ard.bmj.com
Research elucidating the pathogenesis of systemic lupus erythematosus (SLE) has defined
two critical families of mediators, type I interferon (IFN-I) and autoantibodies targeting nucleic …

Emerging concepts of type I interferons in SLE pathogenesis and therapy

A Psarras, M Wittmann, EM Vital - Nature reviews Rheumatology, 2022 - nature.com
Type I interferons have been suspected for decades to have a crucial role in the
pathogenesis of systemic lupus erythematosus (SLE). Evidence has now overturned several …

Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

S Yazar, J Alquicira-Hernandez, K Wing, A Senabouth… - Science, 2022 - science.org
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …

[HTML][HTML] Evolution of immune genes is associated with the Black Death

J Klunk, TP Vilgalys, CE Demeure, X Cheng… - Nature, 2022 - nature.com
Infectious diseases are among the strongest selective pressures driving human evolution,.
This includes the single greatest mortality event in recorded history, the first outbreak of the …

[HTML][HTML] WhichTF is functionally important in your open chromatin data?

Y Tanigawa, ES Dyer, G Bejerano - PLOS Computational Biology, 2022 - journals.plos.org
We present WhichTF, a computational method to identify functionally important transcription
factors (TFs) from chromatin accessibility measurements. To rank TFs, WhichTF applies an …

[HTML][HTML] Clinical and immunological biomarkers for systemic lupus erythematosus

H Yu, Y Nagafuchi, K Fujio - Biomolecules, 2021 - mdpi.com
Systemic lupus erythematosus (SLE) is characterized by immune system dysfunction and is
clinically heterogeneous, exhibiting renal, dermatological, neuropsychiatric, and …

Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants

CG Vinuesa, N Shen, T Ware - Nature Reviews Nephrology, 2023 - nature.com
The past few years have provided important insights into the genetic architecture of systemic
autoimmunity through aggregation of findings from genome-wide association studies …

Systemic lupus erythematosus and cardiovascular disease

J Frostegård - Journal of Internal Medicine, 2023 - Wiley Online Library
The prognosis in systemic lupus erythematosus (SLE) has improved due to better treatment
and care, but cardiovascular disease (CVD) still remains an important clinical problem, since …

[HTML][HTML] Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

K Yamaguchi, K Ishigaki, A Suzuki, Y Tsuchida… - Nature …, 2022 - nature.com
Splicing quantitative trait loci (sQTLs) are one of the major causal mechanisms in genome-
wide association study (GWAS) loci, but their role in disease pathogenesis is poorly …

[HTML][HTML] Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus

C Khunsriraksakul, Q Li, H Markus, MT Patrick… - Nature …, 2023 - nature.com
Systemic lupus erythematosus is a heritable autoimmune disease that predominantly affects
young women. To improve our understanding of genetic etiology, we conduct multi-ancestry …