Varaico: Literature-Extracted Genetic Variants

Gene:TLR7
Variant:p.Y264H
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TLR7

NM_016562.4:p.Y264H

Associated Papers

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus.

Sethumadhavan A et al.

Journal of Human Immunity, 2026

Recent insights into the role of innate immunity in lupus.

Robinson LA et al.

Human Molecular Genetics, 2025

Common Toll-like receptor 7 variants define disease risk and phenotypes in juvenile-onset systemic lupus erythematosus.

Renaudineau Y et al.

Journal of Autoimmunity, 2025

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

Antolí A et al.

Journal of Clinical Immunology, 2025

Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus.

Zeng Y et al.

Annals of the Rheumatic Diseases, 2025

Primary immunodeficiency as a cause of immune-mediated kidney diseases.

Zhang C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024

Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function Variant.

Menon S et al.

Journal of Clinical Immunology, 2024

UNCovering new causes of monogenic systemic lupus erythematosus.

Ellyard JI et al.

Immunology and Cell Biology, 2024

Polymorphism in the leucine-rich repeats of TLR7 in different breeds of chicken and in silico analysis of its effect on TLR7 structure and function.

Kaliappan A et al.

Gene, 2024

A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.

Stremenova Spegarova J et al.

The Journal of Clinical Investigation, 2024

Human and Murine Toll-like Receptor-Driven Disease in Systemic Lupus Erythematosus.

von Hofsten S et al.

International Journal of Molecular Sciences, 2024

Altered X-chromosome inactivation predisposes to autoimmunity.

Huret C et al.

Science Advances, 2024

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.

David C et al.

Journal of Clinical Immunology, 2024

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

TLR8 escapes X chromosome inactivation in human monocytes and CD4+ T cells.

Youness A et al.

Biology of Sex Differences, 2023

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

Vinuesa CG et al.

Nature Reviews. Nephrology, 2023

Monogenic lupus: Tracing the therapeutic implications from single gene mutations.

Jia X et al.

Clinical Immunology (orlando, Fla.), 2023

Gain-of-function TLR7 and loss-of-function A20 gene variants identify a novel pathway for Mendelian lupus and lupus nephritis.

Villalvazo P et al.

Clinical Kidney Journal, 2022

For whom the B cells toll.

Deenick EK et al.

Immunology and Cell Biology, 2022

Novel TLR7 variant causes lupus.

Attwaters M

Nature Reviews. Rheumatology, 2022

TLR7 gain-of-function genetic variation causes human lupus.

Brown GJ et al.

Nature, 2022

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