Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A744S
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MEFV

NM_000243.3:p.A744S

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

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

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

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

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

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA.

Karadavut D et al.

Human Genetics, 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

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

Başer Taşkın B et al.

European Journal of Pediatrics, 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 )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

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

The role of epigenetic modifications in systemic autoinflammatory diseases.

Cetin Gedik K et al.

Current Opinion in Immunology, 2025

The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.

Kazan HH et al.

Cureus, 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

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

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

A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.

Batu ED et al.

Rheumatology (oxford, England), 2025

MEFV gene variations in COVID-19 pneumonia patients (Pilot study).

Radwan NA et al.

Journal, Genetic Engineering & Biotechnology, 2025

In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.

Paronyan A et al.

Acs Omega, 2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Abu Shtaya A et al.

Pediatric Research, 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

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Cunningham JL et al.

Developmental Neuroscience, 2025

39396515 (PubMed )
Supplement: Supplementary_material-Suppl.5-s5.xlsx › Sheet1

Vasculitis as an indicator of disease severity in familial Mediterranean fever.

Barzilai A et al.

Frontiers in Immunology, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

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

Habibi A et al.

Iranian Journal of Child Neurology, 2025

Co-occurrence of autoimmune diseases and metabolic disorders in familial mediterranean fever patients: review of literature and case reports.

Chaaban A et al.

Frontiers in Immunology, 2025

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

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

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

A plasmonic biosensor pre-diagnostic tool for Familial Mediterranean Fever.

Karaca Acari I et al.

Nature Communications, 2024

39353949 (PubMed )
Supplement: 41467_2024_52961_MOESM2_ESM.pdf

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

Yurdakul FG et al.

Rheumatology International, 2024

Arterial Stiffness and Ambulatory Blood Pressure Measurements in Children With Familial Mediterranean Fever.

Leventoğlu E et al.

Clinical Pediatrics, 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

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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."