Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R202Q
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MEFV

NM_000243.3:p.R202Q

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

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

Çetin Ç et al.

Clinical Rheumatology, 2026

Long-Term outcomes of children diagnosed with indeterminate colitis.

Cetinoglu S et al.

Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 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

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

Ugurlu S et al.

Balkan Medical Journal, 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

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

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

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

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 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

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

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

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

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

S100A9 promotes inflammasome-dependent autoinflammation by blocking the degradation of SYK tyrosine kinase.

Wolf J et al.

Journal of Leukocyte Biology, 2025

Pyoderma gangrenosum arising at the site of BCG immunization in a nine-month-old girl.

Okura Y et al.

Immunological Medicine, 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

The role of epigenetic modifications in systemic autoinflammatory diseases.

Cetin Gedik K et al.

Current Opinion in Immunology, 2025

R202Q homozygosity in the MEFV gene may not be classified as classical FMF.

Georgin-Lavialle S et al.

European Journal of Internal Medicine, 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

Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?

Baggio C et al.

Journal of Clinical Immunology, 2025

Anakinra during pregnancy and lactation for corticosteroid-dependant colchicine-resistant recurrent pericarditis in a patient with neutralizing anti-interleukin-1 receptor antagonist antibodies: a case report.

Cerne Cercek A et al.

European Heart Journal. Case Reports, 2025

Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey).

Ganiyusufoglu E et al.

Nucleosides, Nucleotides & Nucleic Acids, 2025

Efficacy and Safety of Anakinra in Colchicine-Resistant or -Intolerant Familial Mediterranean Fever: A Single-Center Real-Life Experience.

Ocak T et al.

Medicina (kaunas, Lithuania), 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

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

Colitis in a patient with familial Mediterranean fever: Is it Crohn's disease or ulcerative colitis?

Hoshi A et al.

Den Open, 2025

Updated genetic background of generalized pustular psoriasis as an autoinflammatory keratinization disease.

Akiyama M

The Journal of Dermatology, 2025

New Diseases Linked to MEFV Variants or Pyrinopathies.

Mertz P et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

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

Radwan NA et al.

Journal, Genetic Engineering & Biotechnology, 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

PASH syndrome: A novel MEFV mutation variant with excellent response to adalimumab in a refractory case.

Feola H et al.

International Journal of Dermatology, 2025

Generalized pustular psoriasis: immunological mechanisms, genetics, and emerging therapeutics.

Lee CC et al.

Trends in Immunology, 2025

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis.

Jeon H et al.

Plos One, 2025

40408428 (PubMed )
Supplement: pone.0323302.s003.xlsx › Sheet1

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

A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".

Abi Chakra N et al.

The Application of Clinical Genetics, 2025

Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.

Hernández-Rodríguez J et al.

Journal of Clinical Medicine, 2024

Familial Mediterranean fever in children from central-southern Italy: a multicentric retrospective cohort study.

La Bella S et al.

Clinical Rheumatology, 2024

Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort study.

Nakase H et al.

Ebiomedicine, 2024

A Case of Familial Mediterranean Fever With Severe Attacks During Withdrawal Bleeding After Controlled Ovarian Hyperstimulation.

Tatara M et al.

Cureus, 2024

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

Elhani I et al.

Rmd Open, 2024

Challenging diagnosis of primary hepatic epithelioid hemangioendothelioma in a patient with familial Mediterranean fever and hypothyroidism: A rare case report.

Alarashi L et al.

Heliyon, 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."