Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.E148Q
Back to variants list

MEFV

NM_000243.3:p.E148Q

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

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.

Anh PNL et al.

Orphanet Journal of Rare Diseases, 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

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

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

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

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 2026

41512860 (PubMed )
Supplement: mmc2.pdf

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

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

Ugurlu S et al.

Balkan Medical Journal, 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

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

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.

Morad LM et al.

World Journal of Clinical Pediatrics, 2025

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

Roganović J et al.

Acta Medica Academica, 2025

Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.

Wu S et al.

The Journal of Allergy and Clinical Immunology, 2025

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

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 2025

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

Fukuda S et al.

Cureus, 2025

Polyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.

Luo J et al.

Virchows Archiv : an International Journal of Pathology, 2025

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

Başer Taşkın B et al.

European Journal of Pediatrics, 2025

Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.

Tas-Aygar G et al.

Pediatric Dermatology, 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

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

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

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

M694I variant of MEFV drives pathogenesis of familial Mediterranean fever through enhanced Th17 cell differentiation.

Koga T et al.

Rheumatology (oxford, England), 2025

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

Wolf J et al.

Journal of Leukocyte Biology, 2025

Nutritional status in children with familial Mediterranean fever.

Bahçeci O et al.

Postgraduate Medicine, 2025

Scrotal Pain in Familial Mediterranean Fever: A Series of Three Case Reports and Literature Review.

Bahaa A et al.

Mediterranean Journal of Rheumatology, 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

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

Change in Gasdermin-D gene expression in familial Mediterranean fever compared to healthy children with or without acute infections.

Avar Aydın PÖ et al.

The Turkish Journal of Pediatrics, 2025

Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.

Ding X et al.

Orphanet Journal of Rare Diseases, 2025

Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

Dumont A et al.

Joint Bone Spine, 2025

Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.

Tunce E et al.

Turkish Archives of Pediatrics, 2025

The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.

Güzin Y et al.

Neuropediatrics, 2025

1–50 of 1297 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."