An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis

S Tokuhiro, R Yamada, X Chang, A Suzuki, Y Kochi… - Nature …, 2003 - nature.com
Rheumatoid arthritis is a common inflammatory disease with complex genetic components.
We investigated the genetic contribution of the cytokine gene cluster in chromosome 5q31 to …

The genetic basis of systemic lupus erythematosus: what are the risk factors and what have we learned

M Teruel, ME Alarcón-Riquelme - Journal of autoimmunity, 2016 - Elsevier
The genome-wide association study is a free-hypothesis approach based on screening of
thousands or even millions of genetic variants distributed throughout the whole human …

PD-1 and its ligands in T-cell immunity

ME Keir, LM Francisco, AH Sharpe - Current opinion in immunology, 2007 - Elsevier
The past year has seen significant advances in our understanding of the critical roles of
negative immunoregulatory signals delivered by the programmed death 1 (PD-1)–PD-1 …

Biochemical signaling of PD-1 on T cells and its functional implications

VA Boussiotis, P Chatterjee, L Li - The cancer journal, 2014 - journals.lww.com
Maintenance of peripheral tolerance is essential for homeostasis of the immune system.
While central tolerance mechanisms result in deletion of the majority of self-reactive T cells …

Recent insights into the genetic basis of systemic lupus erythematosus

KL Moser, JA Kelly, CJ Lessard, JB Harley - Genes & Immunity, 2009 - nature.com
Genetic variation was first shown to be important in systemic lupus erythematosus (SLE or
lupus) in the 1970s with associations in the human leukocyte antigen region. Almost four …

PD-1 and cancer: molecular mechanisms and polymorphisms

A Salmaninejad, V Khoramshahi, A Azani… - Immunogenetics, 2018 - Springer
The programmed cell death protein 1 (PD-1) is expressed by activated T cells that act as an
immunoregulatory molecule, and are responsible for the negative regulation of T cell …

B7-H1 pathway and its role in the evasion of tumor immunity

H Dong, L Chen - Journal of molecular medicine, 2003 - Springer
B7-H1 is a recently identified member of the B7 family molecules. Upon ligation to its
receptors on T cells it regulates activation and differentiation of T cells. B7-H1 preferentially …

Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort

D Alarcón‐Segovia, ME Alarcón‐Riquelme… - Arthritis & …, 2005 - Wiley Online Library
Objective To determine whether there is familial aggregation of systemic lupus
erythematosus (SLE) and/or other autoimmune diseases in SLE patients and to identify …

Gene-targeted mice lacking the Trex1 (DNase III) 3′→ 5′ DNA exonuclease develop inflammatory myocarditis

M Morita, G Stamp, P Robins, A Dulic… - … and cellular biology, 2004 - Am Soc Microbiol
TREX1, originally designated DNase III, was isolated as a major nuclear DNA-specific 3′→
5′ exonuclease that is widely distributed in both proliferating and nonproliferating …

Immune checkpoints as therapeutic targets in autoimmunity

C Paluch, AM Santos, C Anzilotti, RJ Cornall… - Frontiers in …, 2018 - frontiersin.org
Antibodies that block the immune checkpoint receptors PD1 and CTLA4 have revolutionized
the treatment of melanoma and several other cancers, but in the process, a new class of …