Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.I199N
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TNFRSF1A

NM_001065.4:p.I199N

Associated Papers

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.

Delaleu J et al.

Rheumatology (oxford, England), 2021

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Sighart R et al.

Rheumatology International, 2018

Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS).

Schmaltz R et al.

Dermato-endocrinology, 2010

A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).

Churchman SM et al.

Annals of the Rheumatic Diseases, 2008

Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.

Stojanov S et al.

Annals of the Rheumatic Diseases, 2008

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

Adrenal and gonadal hormone variations during a febrile attack in a woman with tumor necrosis factor receptor-associated periodic syndrome.

Straub RH et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.

Ida H et al.

Rheumatology (oxford, England), 2004

Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour.

Todd I et al.

Immunology, 2004

Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis.

Kriegel MA et al.

Arthritis and Rheumatism, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."