Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.M694I
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MEFV

NM_000243.3:p.M694I

Associated Papers

Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever following COVID-19: A Case Report.

Ueno N et al.

Internal Medicine (tokyo, Japan), 2026

Evaluation of pediatric FMF patients with biallelic pathogenic exon 10 variants: focus on chest pain.

Tunce E et al.

European Journal of Pediatrics, 2026

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

Jaber N et al.

European Journal of Internal Medicine, 2026

Still's Disease and Autoinflammation: Positioning an Inflammatory Syndrome on the Autoinflammation-Autoimmunity Spectrum.

Pietsch D et al.

Current Rheumatology Reports, 2026

Targeting cytokine pathways: the role of biologics in autoinflammatory disorders.

Koga T

Expert Review of Clinical Immunology, 2026

The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.

Du Y et al.

Communications Medicine, 2026

Cachexia as an unusual presentation of familial Mediterranean fever: A case report.

Sira AM et al.

World Journal of Clinical Cases, 2026

The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.

Kızılkaya B et al.

Journal of Clinical Medicine, 2026

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 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

Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.

Ugurlu S et al.

Balkan Medical Journal, 2026

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

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

Nakamura T et al.

Gastro Hep Advances, 2026

Evaluation of the Effect of IL-1 Antagonists on Pituitary Function.

Aktas Koc F et al.

International Journal of Endocrinology, 2026

Growth and pubertal development in children with familial Mediterranean fever under colchicine therapy.

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.

Morad LM et al.

World Journal of Clinical Pediatrics, 2025

Genetics of IgA Vasculitis: What We Know and Where We Are Going.

Roganović J et al.

Acta Medica Academica, 2025

[An unusual cause for kidney transplantation].

Kremer P et al.

Innere Medizin (heidelberg, Germany), 2025

[Use of IL-1 inhibitors in the treatment of familial Mediterranean fever in pediatric rheumatology].

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 2025

Familial Mediterranean Fever With Compound Heterozygosity for the Pyrin Variant L110P-E148Q: A Case Report.

Fukuda S et al.

Cureus, 2025

Liver function changes in pediatric FMF: exploring disease dynamics and therapy impacts.

Başer Taşkın B et al.

European Journal of Pediatrics, 2025

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

Different arthritis patterns in pediatric familial Mediterranean fever: Focus on exon 10 biallelic pathogenic genotypes.

Tunce E et al.

Joint Bone Spine, 2025

Genotype-phenotype correlations and resistance to colchicine in a familial Mediterranean fever cohort in southwestern Spain.

Quiles CH et al.

European Journal of Internal Medicine, 2025

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
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The impact of homozygous mutations in exon 10 on musculoskeletal findings in children with familial mediterranean fever.

Ozbakir C et al.

European Journal of Pediatrics, 2025

Neurological involvement in children with familial Mediterranean fever: a systematic review.

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

M694I variant of MEFV drives pathogenesis of familial Mediterranean fever through enhanced Th17 cell differentiation.

Koga T et al.

Rheumatology (oxford, England), 2025

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Kılıç Könte E et al.

The Turkish Journal of Pediatrics, 2025

Scrotal Pain in Familial Mediterranean Fever: A Series of Three Case Reports and Literature Review.

Bahaa A et al.

Mediterranean Journal of Rheumatology, 2025

Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal.

Tunce E et al.

Rheumatology (oxford, England), 2025

[Genetic diagnostics in fever syndromes].

Gebhardt C et al.

Zeitschrift Fur Rheumatologie, 2025

The role of epigenetic modifications in systemic autoinflammatory diseases.

Cetin Gedik K et al.

Current Opinion in Immunology, 2025

Successful control of recurrent MAS by canakinumab in a Sjögren syndrome patient with homozygous MEFV P369S variants and review of literatures.

Ono N et al.

Modern Rheumatology Case Reports, 2025

Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility.

Brown M et al.

Research Square, 2025

Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre.

Caterson HC et al.

Rheumatology (oxford, England), 2025

Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

Dumont A et al.

Joint Bone Spine, 2025

The same genotype gives rise to a spectrum of disorders.

Yao Q

The Lancet. Rheumatology, 2025

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

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

The enigma of familial Mediterranean fever: phenotypic characterization of patients harbouring variants of uncertain significance.

Ulu K et al.

Rheumatology (oxford, England), 2025

Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Variants Associated With Familial Mediterranean Fever.

Hacisuleyman A et al.

Proteins, 2025

Comment on: Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis: reply.

Reygaerts T et al.

Rheumatology (oxford, England), 2025

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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."