Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E84K
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MEFV

NM_000243.3:p.E84K

Associated Papers

Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).

Jaber N et al.

European Journal of Internal Medicine, 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

The improvement of a refractory enterocutaneous fistula with colchicine in a patient with Crohn's disease who had an MEFV gene mutation.

Yokoyama Y et al.

Clinical Journal of Gastroenterology, 2025

Could tocilizumab be used in familial Mediterranean fever? A systematic review.

Mertz P et al.

Rheumatology (oxford, England), 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

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

Hayrapetyan V et al.

International Journal of Molecular Sciences, 2024

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

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 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

Old paradigms and new concepts in familial Mediterranean fever (FMF): an update 2023.

Ben-Chetrit E

Rheumatology (oxford, England), 2024

Neuromyelitis optica spectrum disorder with a familial Mediterranean fever gene E84K mutation.

Nakamura N et al.

Journal of Neurology, 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

Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.

Nakayama T et al.

Internal Medicine (tokyo, Japan), 2023

Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.

Magnotti F et al.

Cell Reports, 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

Dermatomyositis-like eruptions and fasciitis with novel compound heterozygous MEFV mutations: Newly recognized features of a variant of familial Mediterranean fever.

Sumida H et al.

The Journal of Dermatology, 2021

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

Honda Y et al.

Journal of Clinical Immunology, 2021

Genetic and clinical characteristics associated with efficacy and retention rates of colchicine in Japanese patients with familial Mediterranean fever: A single-center observational study.

Hara K et al.

Modern Rheumatology, 2021

Late-onset familial Mediterranean fever in Japan.

Kishida D et al.

Modern Rheumatology, 2020

Necessity of Utilizing Physiological Glucocorticoids for Managing Familial Mediterranean Fever.

Ashida K et al.

The American Journal of Case Reports, 2020

The grandfather's fever.

Ricci P et al.

Clinical Rheumatology, 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

MEFV gene mutations in neuro-Behçet's disease and neuro-Sweet disease.

Ishikawa H et al.

Annals of Clinical and Translational Neurology, 2019

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.

Kernan KF et al.

Genes and Immunity, 2019

Atypical Familial Mediterranean Fever Complicated with Gastrointestinal Amyloidosis Diagnosed due to Paroxysmal Arthralgia and Intractable Diarrhea, Successfully Treated with Tocilizumab.

Aikawa E et al.

Internal Medicine (tokyo, Japan), 2019

Serum amyloid A1 (SAA1) gene polymorphisms in Japanese patients with adult-onset Still's disease.

Yashiro M et al.

Medicine, 2018

Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.

Endo Y et al.

Arthritis Research & Therapy, 2018

Mediterranean fever gene mutations in patients with possible neuro-Sweet disease: a case series.

Ishikawa H et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Complex formation dynamics of native and mutated pyrin's B30.2 domain with caspase-1.

Arakelov G et al.

Proteins, 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

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.

Asano T et al.

Arthritis Research & Therapy, 2017

[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

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

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

Familial Mediterranean fever is no longer a rare disease in Japan.

Migita K et al.

Arthritis Research & Therapy, 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

IL-18 serum concentration is markedly elevated in typical familial Mediterranean fever with M694I mutation and can distinguish it from atypical type.

Yamazaki T et al.

Modern Rheumatology, 2016

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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."