Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.S503C
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MEFV

NM_000243.3:p.S503C

Associated Papers

Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.

Itoh K et al.

Internal Medicine (tokyo, Japan), 2026

Accurate Diagnosis of Familial Mediterranean Fever Improved Quality of Life for a Patient and Her Family: A Case Report.

Kurihara M et al.

Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2026

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.

Nakamura T et al.

Gastro Hep Advances, 2026

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.

Choi SR et al.

Journal of Rheumatic Diseases, 2025

Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

Colitis in a patient with familial Mediterranean fever: Is it Crohn's disease or ulcerative colitis?

Hoshi A et al.

Den Open, 2025

Updated genetic background of generalized pustular psoriasis as an autoinflammatory keratinization disease.

Akiyama M

The Journal of Dermatology, 2025

Generalized pustular psoriasis: immunological mechanisms, genetics, and emerging therapeutics.

Lee CC et al.

Trends in Immunology, 2025

Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus.

Endo Y et al.

Frontiers in Immunology, 2025

A Case of Familial Mediterranean Fever With Severe Attacks During Withdrawal Bleeding After Controlled Ovarian Hyperstimulation.

Tatara M et al.

Cureus, 2024

Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.

Kishida D et al.

Immunological Medicine, 2024

Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.

Yamada S et al.

Inflammatory Bowel Diseases, 2024

Familial Mediterranean fever with colonic lesions: A case report.

Ariga H et al.

Den Open, 2024

A Case of Atypical Familial Mediterranean Fever With Pseudopolyposis-Like Mucosal Changes in the Ileum.

Ariga H et al.

Cureus, 2024

Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.

Souali M et al.

Qatar Medical Journal, 2024

Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.

Yoshida S et al.

Journal of Clinical Medicine, 2023

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet's Disease and Refractoriness to Treatment.

Furuta Y et al.

Journal of Clinical Medicine, 2023

<Editors' Choice> Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report.

Takahashi N et al.

Nagoya Journal of Medical Science, 2023

Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.

Tomokawa T et al.

Modern Rheumatology, 2022

Effect of Germline MEFV Polymorphisms on the Prognosis of Japanese Children with Cancer: A Regional Analysis.

Hasegawa M et al.

Oncology, 2022

Familial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis.

Igarashi K et al.

Journal of Pediatric Hematology/oncology, 2021

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn's disease: a case report.

Yokoyama Y et al.

Clinical Journal of Gastroenterology, 2021

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant.

Sato T et al.

Case Reports in Pediatrics, 2021

The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Zhong L et al.

Pediatric Rheumatology Online Journal, 2020

32398039 (PubMed )
Supplement: 12969_2020_427_MOESM3_ESM.xlsx › Healthy_controls

Late-onset familial Mediterranean fever in Japan.

Kishida D et al.

Modern Rheumatology, 2020

The grandfather's fever.

Ricci P et al.

Clinical Rheumatology, 2020

Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan.

Hosoi T et al.

Internal Medicine (tokyo, Japan), 2020

MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified.

Saito D et al.

Digestion, 2020

Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes.

Fujimoto K et al.

Internal Medicine (tokyo, Japan), 2020

[Atypical clinical presentation of familial Mediterranean fever resembling colonic diverticulitis in an elderly patient:a case report].

Takahashi S et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis.

Sugie M et al.

Neurology and Clinical Neuroscience, 2018

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.

Kimura K et al.

Internal Medicine (tokyo, Japan), 2018

Longitudinal analysis of serum interleukin-18 in patients with familial Mediterranean fever carrying MEFV mutations in exon 10.

Wada T et al.

Cytokine, 2018

One novel and two uncommon MEFV mutations in Japanese patients with familial Mediterranean fever: a clinicogenetic study.

Kishida D et al.

Rheumatology International, 2018

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M et al.

Biochemistry and Biophysics Reports, 2017

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

[A Case of FMF (Familial Mediterranean Fever) with HLA-B*39 and HLA-B*40 as Disease-promoting Factors].

Tokunaga T et al.

Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2016

First autopsy case report of Familial Mediterranean fever in a Japanese man.

Amano Y et al.

Pathology International, 2016

Familial Mediterranean Fever developing in a Japanese kidney transplant recipient.

Yazawa M et al.

Cen Case Reports, 2016

Multiple Serum Cytokine Profiling to Identify Combinational Diagnostic Biomarkers in Attacks of Familial Mediterranean Fever.

Koga T et al.

Medicine, 2016

Pulmonary Necrotizing Granulomas in a patient with familial mediterranean fever.

Kushima H et al.

Modern Rheumatology, 2015

Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study.

Ishikawa N et al.

Diagnostic Pathology, 2015

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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."