Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.M694V
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MEFV

NM_000243.3:p.M694V

Associated Papers

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

Sado T et al.

Den Open, 2026

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

Increased risk of psoriatic arthritis in patients with familial Mediterranean fever: a population-based cohort study.

Haddad A et al.

Rheumatology (oxford, England), 2026

Inflammatory ankle MRI findings in pediatric and young adult patients with familial Mediterranean fever: a comparison with juvenile idiopathic arthritis and chronic nonbacterial osteomyelitis.

Kraus M et al.

Skeletal Radiology, 2026

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

Koga T

Expert Review of Clinical Immunology, 2026

Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.

Itoh K et al.

Internal Medicine (tokyo, Japan), 2026

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

Çetin Ç et al.

Clinical Rheumatology, 2026

Colchicine discontinuation in familial Mediterranean fever: short-term outcomes by pre-discontinuation attack frequency.

Aktas B 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

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

Kızılkaya B et al.

Journal of Clinical Medicine, 2026

Clinical and genomic features of Iranian patients with very early onset IBD.

Haghipanah M et al.

Pediatric Research, 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

Colchicine prophylaxis in pediatric PFAPA: a systematic review.

Dipasquale RF et al.

European Journal of Pediatrics, 2026

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

Ugurlu S et al.

Balkan Medical Journal, 2026

The Quality of Life in Patients with Familial Mediterranean Fever and Their Parents Perception.

Ensari E et al.

Klinische Padiatrie, 2026

Co-Existence of IL6ST and MEFV Pathogenic Variant in a Patient With Hyper-IgE Syndrome.

Kose H et al.

Immunology, 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

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

Abdominal Pain Attacks and Angioedema in a Patient With a Homozygous MEFV Mutation: Concurrent FXII Hereditary Angioedema.

Bulut G et al.

Journal of Investigational Allergology & Clinical Immunology, 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

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

Roganović J et al.

Acta Medica Academica, 2025

Association of Mediterranean diet adherence with familial Mediterranean fever severity in a Lebanese cohort.

Hammoud R et al.

Pediatric Rheumatology Online Journal, 2025

[An unusual cause for kidney transplantation].

Kremer P et al.

Innere Medizin (heidelberg, Germany), 2025

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf

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

Cam V et al.

Rheumatology (oxford, England), 2025

Impact of Familial Mediterranean Fever on Choroidal Tissue: A Study of Choroidal Thickness and Vascularity in Pediatric Patients.

Gürbostan Soysal G et al.

Ocular Immunology and Inflammation, 2025

Vascular characteristics of pediatric patients with familial Mediterranean fever: a study of optical coherence tomography angiography findings.

Soysal GG et al.

Japanese Journal of Ophthalmology, 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

Retinal clues to subclinical inflammation in familial Mediterranean fever.

Başaran Ö et al.

Pediatric Research, 2025

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

Başer Taşkın B et al.

European Journal of Pediatrics, 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."