Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.M680I
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MEFV

NM_000243.3:p.M680I

Associated Papers

Real-World Efficacy, Safety, and Drug Retention of Anakinra and Canakinumab in Pediatric Colchicine-Resistant Familial Mediterranean Fever: Insights from a Single-Center Cohort.

Çağlayan Ş et al.

Modern Rheumatology, 2026

Machine learning algorithms for predicting colchicine resistance in familial Mediterranean fever.

Öztürk A et al.

Rheumatology (oxford, England), 2026

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

Clinical features of patients with familial Mediterranean fever over 50 years of age: a single-center experience.

Baspinar SN et al.

Internal and Emergency Medicine, 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

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

Koga T

Expert Review of Clinical Immunology, 2026

Maternal and fetal risks in familial mediterranean fever: focus on adverse pregnancy outcomes.

Çetin Ç et al.

Clinical Rheumatology, 2026

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

Du Y et al.

Communications Medicine, 2026

41611845 (PubMed )
Supplement: 43856_2026_1392_MOESM1_ESM.pdf

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

Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?

Özomay Baykal G et al.

Scandinavian Journal of Rheumatology, 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

Lung-only involvement in STING-associated vasculopathy with onset in infancy: a diagnostic pitfall in the absence of cutaneous vasculitis.

Kisla Ekinci RM et al.

Zeitschrift Fur Rheumatologie, 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 MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations.

Kulaksiz B et al.

Reumatologia Clinica, 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

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.

Wongboonsin J et al.

Kidney International, 2025

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

Morad LM et al.

World Journal of Clinical Pediatrics, 2025

Overlap of familial Mediterranean fever and APLAID treated with anakinra: a case-based review.

Akoglu G et al.

Clinical Rheumatology, 2025

[An unusual cause for kidney transplantation].

Kremer P et al.

Innere Medizin (heidelberg, Germany), 2025

Re-evaluation of MEFV carriers previously diagnosed with FMF: a colchicine discontinuation study.

Cam V et al.

Rheumatology (oxford, England), 2025

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

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 2025

Transcriptome analysis of unmedicated heterozygous familial Mediterranean fever patients reveals a type I interferon signature driving increasing Pyrin expression.

Sag E et al.

Annals of the Rheumatic Diseases, 2025

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

Fukuda S et al.

Cureus, 2025

Effect of MEFV mutations and HLA-B27 on clinical findings of familial Mediterranean fever and spondyloarthritis.

Yuce Inel T et al.

Medicine, 2025

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

Başer Taşkın B et al.

European Journal of Pediatrics, 2025

Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.

Tas-Aygar G et al.

Pediatric Dermatology, 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

Evaluation of biological treatment in pediatric patients with familial Mediterranean fever: a retrospective study of 832 patients.

Pervane YD et al.

Expert Opinion on Biological Therapy, 2025

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

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

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.

Kablan A et al.

Clinical Genetics, 2025

Nutritional status in children with familial Mediterranean fever.

Bahçeci O et al.

Postgraduate Medicine, 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

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Tunce E et al.

Rheumatology (oxford, England), 2025

R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever.

Sagris D et al.

European Journal of Internal Medicine, 2025

[Genetic diagnostics in fever syndromes].

Gebhardt C et al.

Zeitschrift Fur Rheumatologie, 2025

Change in Gasdermin-D gene expression in familial Mediterranean fever compared to healthy children with or without acute infections.

Avar Aydın PÖ et al.

The Turkish Journal of Pediatrics, 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

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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."