Varaico: Literature-Extracted Genetic Variants

Gene:TNF
Variant:p.C30R
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TNF

NM_000594.4:p.C30R

Associated Papers

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Sánchez-Duffhues G et al.

Cells, 2023

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.

Yasumura J et al.

Modern Rheumatology, 2016

Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literature.

Chen YJ et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2014

[Progress in classification and treatment for TNF receptor-associated periodic syndrome].

Tsukamoto H et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011

A novel missense mutation in tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene found in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) manifesting adult-onset Still disease-like skin eruptions: report of a case and review of the Japanese patients.

Nakamura M et al.

The British Journal of Dermatology, 2009

Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family.

Takagi K et al.

Modern Rheumatology, 2007

[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases].

Alvarez-Lobos M et al.

Revista Medica De Chile, 2006

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS).

Lobito AA et al.

Blood, 2006

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

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis.

Broeders EN et al.

American Journal of Medical Genetics. Part A, 2004

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.

Jadoul M et al.

Kidney International, 2001

A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.

Dodé C et al.

Arthritis and Rheumatism, 2000

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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."