Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.L110P
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MEFV

NM_000243.3:p.L110P

Associated Papers

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

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

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

Du Y et al.

Communications Medicine, 2026

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.

Nakamura T et al.

Gastro Hep Advances, 2026

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

Fukuda S et al.

Cureus, 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

The role of epigenetic modifications in systemic autoinflammatory diseases.

Cetin Gedik K et al.

Current Opinion in Immunology, 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

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

Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.

Jesenak M et al.

Clinical and Experimental Medicine, 2025

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

Hoshi A et al.

Den Open, 2025

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

40421383 (PubMed )
Supplement: Table1.xlsx › Table_S4

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

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

Hayrapetyan V et al.

International Journal of Molecular Sciences, 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

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

Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.

Kishida D et al.

Immunological Medicine, 2024

The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.

Ben-Chetrit E et al.

Clinical Genetics, 2024

Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.

Oprea Y et al.

American Journal of Clinical Dermatology, 2024

Molecular analyses of MEFV gene mutation variants in Turkish population.

Aksoy R et al.

Molecular Biology Reports, 2024

Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.

Yamada S et al.

Inflammatory Bowel Diseases, 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

Associations of MEFV gene variants, IL-33, and sST2 with the risk of Henoch-Schönlein purpura in children.

Ruan Y et al.

Heliyon, 2024

Familial Mediterranean fever with colonic lesions: A case report.

Ariga H et al.

Den Open, 2024

Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.

Reygaerts T et al.

Rheumatology (oxford, England), 2024

Old paradigms and new concepts in familial Mediterranean fever (FMF): an update 2023.

Ben-Chetrit E

Rheumatology (oxford, England), 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.

Zhang J et al.

Frontiers in Immunology, 2024

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

Souali M et al.

Qatar Medical Journal, 2024

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.

Prieto-Peña D et al.

Frontiers in Immunology, 2024

Colchicine-resistant sacroiliitis in a Japanese patient with familial Mediterranean fever.

Matsumoto H et al.

Modern Rheumatology Case Reports, 2023

Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.

Yoshida S et al.

Journal of Clinical Medicine, 2023

Atypical Familial Mediterranean Fever Presenting with Recurrent Upper Back Pain: A Case Report.

Matsumoto H et al.

The Tohoku Journal of Experimental Medicine, 2023

Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.

Seyahi E et al.

Clinical Immunology (orlando, Fla.), 2023

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet's Disease and Refractoriness to Treatment.

Furuta Y et al.

Journal of Clinical Medicine, 2023

MEFV gene mutation spectrum in patients with familial mediterranean fever.

Wang HH

Pediatrics and Neonatology, 2023

Chest pain in children with familial Mediterranean fever.

Sunar-Yayla EN et al.

The Turkish Journal of Pediatrics, 2023

The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever.

Stella A et al.

Internal and Emergency Medicine, 2022

Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.

Tomokawa T et al.

Modern Rheumatology, 2022

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac.

Zou J et al.

Journal of Otology, 2022

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