Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E167D
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MEFV

NM_000243.3:p.E167D

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

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

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

Familial Mediterranean Fever; Recent Advances, Future Prospectives.

Romano M et al.

Diagnostics (basel, Switzerland), 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

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

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

Skrypnyk C et al.

Bmc Pregnancy and Childbirth, 2024

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

Özçelik E et al.

Journal of Paediatrics and Child Health, 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

IL-1 Inhibitors in the Treatment of Familial Mediterranean Fever: Treatment Indications and Clinical Features in a Large Real-World Cohort.

Yalcin-Mutlu M et al.

Journal of Clinical Medicine, 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

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

Feghali R et al.

Frontiers in Genetics, 2024

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

Tuncer Kuru F et al.

Modern Rheumatology, 2023

Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients.

Baspinar O et al.

Medicine, 2023

Importance of hematological markers in familial Mediterranean fever in terms of disease severity and amyloidosis.

Tezcan ME et al.

Rheumatology International, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

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

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

Chest pain in children with familial Mediterranean fever.

Sunar-Yayla EN et al.

The Turkish Journal of Pediatrics, 2023

Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.

Magnotti F et al.

Cell Reports, 2022

Late-onset familial mediterranean fever: single-center experience and literature review.

Aydin O et al.

Internal and Emergency Medicine, 2022

Pyoderma gangrenosum in a patient with familial Mediterranean fever and chronic inflammatory seronegative arthropathy: a unique triad.

Constantinou M et al.

Bmj Case Reports, 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M et al.

Functional & Integrative Genomics, 2022

Plasminogen gene polymorphisms [c.924C>T and IVS 8+14 G>A] in periodontitis and familial Mediterranean fever: A case-control study.

Fentoğlu Ö et al.

Journal of Periodontal Research, 2022

Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.

Sgouropoulou V et al.

Rheumatology International, 2022

The clinical effect of gene mutations in familial Mediterranean fever disease.

Güngörer V et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Prediction of More Severe MEFV Gene Mutations in Childhood.

Güneş-Yılmaz S et al.

Turkish Archives of Pediatrics, 2021

Frequencies of the MEFV Gene Mutations in Azerbaijan.

Huseynova LS et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

miRNAs as attractive diagnostic and therapeutic targets for Familial Mediterranean Fever.

Okuyan HM et al.

Modern Rheumatology, 2021

Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.

Tanatar A et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2021

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Evaluation of S100A12 protein levels in children with familial Mediterranean fever

Türkmenoğlu Y et al.

Turkish Journal of Medical Sciences, 2021

The role of Mediterranean fever gene variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Yildiz M et al.

European Journal of Pediatrics, 2021

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.

Arpacı A et al.

Molecular Biology Reports, 2021

The influence of carrying MEFV gene variants on juvenile systemic lupus erythematosus.

Tanatar A et al.

Rheumatology International, 2021

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Jayasinghe K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32939031 (PubMed )
Supplement: 41436_2020_963_MOESM1_ESM.pdf

Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.

El Roz A et al.

Medical Sciences (basel, Switzerland), 2020

Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Tartey S et al.

Journal of Leukocyte Biology, 2020

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Balta B et al.

Molecular Biology Reports, 2020

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Rostamizadeh L et al.

Annals of Human Genetics, 2020

Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.

Magnotti F et al.

Embo Molecular Medicine, 2019

31589380 (PubMed )
Supplement: EMMM-11-e10547-s001.pdf
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