Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.F479L
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MEFV

NM_000243.3:p.F479L

Associated Papers

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

Kızılkaya B et al.

Journal of Clinical Medicine, 2026

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

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

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

Cam V et al.

Rheumatology (oxford, England), 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

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

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

Childhood Familial Mediterranean Fever in the United States: Spectrum of Clinical Phenotypes and MEFV Genotypes in a Cohort From Southeast Michigan.

Fathalla BM et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2025

Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.

Jesenak M et al.

Clinical and Experimental Medicine, 2025

Familial Mediterranean fever and MEFV gene variants in hidradenitis suppurativa: A systematic review.

Aw K et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Renal outcomes and survival in amyloidosis associated with familial Mediterranean fever: A longitudinal study.

Ozeri DJ et al.

Seminars in Arthritis and Rheumatism, 2025

Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.

Sheyyab A et al.

Journal of Nephrology, 2025

Familial Mediterranean Fever; Recent Advances, Future Prospectives.

Romano M et al.

Diagnostics (basel, Switzerland), 2025

Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.

Yildirim S et al.

Journal of Clinical Medicine, 2025

The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.

Polat MC et al.

Postgraduate Medicine, 2025

Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.

Habibi A et al.

Iranian Journal of Child Neurology, 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

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

The efficacy of a single-dose anakinra injection during disease attack in pediatric familial Mediterranean fever.

Cebeci SO et al.

Rheumatology International, 2024

Insights into the multifaceted role of interleukin-37 on human immune cell regulation.

Teufel LU et al.

Clinical Immunology (orlando, Fla.), 2024

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

Familial Mediterranean fever: perspective on female fertility and disease course in pregnancy from a multicenter nationwide network.

Yurdakul FG et al.

Rheumatology International, 2024

Sacroiliitis in familial Mediterranean fever: A rare joint involvement of the disease.

Özçelik E et al.

Journal of Paediatrics and Child Health, 2024

Exploring factors for predicting colchicine responsiveness in children with PFAPA.

Özaslan Z et al.

European Journal of Pediatrics, 2024

E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?

Orouk Awaad E et al.

European Journal of Pediatrics, 2024

Analysis of the Effects of SAA1 Gene Polymorphisms on Renal Involvement in a Familial Mediterranean Fever Jordanian Population.

Sheyyab A et al.

The Eurasian Journal of Medicine, 2024

Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms.

Ahmed NE et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.

Muhsinoglu O et al.

Ophthalmic Genetics, 2024

Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients.

Sokkar MF et al.

Clinical Rheumatology, 2024

Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.

Vanhoye X et al.

Practical Laboratory Medicine, 2024

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 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

Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.

Fidan S et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2024

Case report: Other autoinflammatory mutations in a patient with atypical familial Mediterranean fever symptoms.

Hacıoglu E et al.

International Journal of Rheumatic Diseases, 2024

Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies.

Mezher N et al.

Experimental and Molecular Pathology, 2024

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

Souali M et al.

Qatar Medical Journal, 2024

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever.

Feghali R et al.

Frontiers in Genetics, 2024

Case report of a patient with VEXAS syndrome.

Tsourveloudis I et al.

Medicine, 2023

Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.

Tuncer Kuru F et al.

Modern Rheumatology, 2023

R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.

Çapraz M et al.

Irish Journal of Medical Science, 2023

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity.

Caldiran FY et al.

Annals of Human Genetics, 2023

Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.

Chirita D et al.

Cell Death & Disease, 2023

Genetic and Epigenetic Regulation of MEFV Gene and Their Impact on Clinical Outcome in Auto-Inflammatory Familial Mediterranean Fever Patients.

Zekry ME et al.

Current Issues in Molecular Biology, 2023

Occurrence of familial Mediterranean fever in haemophilia patients.

Kirkiz S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.

Salehzadeh F et al.

Iranian Journal of Medical Sciences, 2023

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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."