Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R42W
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MEFV

NM_000243.3:p.R42W

Associated Papers

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

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 2025

Implementation of long-read sequencing for routine molecular diagnosis of familial mediterranean fever.

Vanhoye X et al.

Practical Laboratory Medicine, 2024

Epigenetic, transcriptional, and functional characterization of myeloid cells in familial Mediterranean fever.

Röring RJ et al.

Iscience, 2024

Peripheral T Cell Populations are Differentially Affected in Familial Mediterranean Fever, Chronic Granulomatous Disease, and Gout.

Al B et al.

Journal of Clinical Immunology, 2023

37714974 (PubMed )
Supplement: 10875_2023_1576_MOESM1_ESM.pdf

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.

Peet CJ et al.

Journal of the American Heart Association, 2022

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

Balta B et al.

Molecular Biology Reports, 2020

Mutational Landscape of Ovarian Adult Granulosa Cell Tumors from Whole Exome and Targeted TERT Promoter Sequencing.

Alexiadis M et al.

Molecular Cancer Research : Mcr, 2019

Complex formation dynamics of native and mutated pyrin's B30.2 domain with caspase-1.

Arakelov G et al.

Proteins, 2018

Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.

Moradian MM et al.

Molecular Genetics & Genomic Medicine, 2017

Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.

Petrushkin H et al.

Ocular Immunology and Inflammation, 2016

An updated view on the structure and function of PYRIN domains.

Chu LH et al.

Apoptosis : an International Journal on Programmed Cell Death, 2015

Identification of multifaceted binding modes for pyrin and ASC pyrin domains gives insights into pyrin inflammasome assembly.

Vajjhala PR et al.

The Journal of Biological Chemistry, 2014

Familial Mediterranean fever: An updated review.

Sarı İ et al.

European Journal of Rheumatology, 2014

Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.

Omenetti A et al.

Annals of the Rheumatic Diseases, 2014

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.

Moradian MM et al.

Journal of Human Genetics, 2010

CATERPILLERs, pyrin and hereditary immunological disorders.

Ting JP et al.

Nature Reviews. Immunology, 2006

Role of charged and hydrophobic residues in the oligomerization of the PYRIN domain of ASC.

Moriya M et al.

Biochemistry, 2005

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics.

Tchernitchko D et al.

Clinical Chemistry, 2004

The spectrum of Familial Mediterranean Fever (FMF) mutations.

Touitou I

European Journal of Human Genetics : Ejhg, 2001

Association between familial mediterranean fever and retroperitoneal fibrosis: retroperitoneal fibrosis regression after colchicine therapy.

De Socio G et al.

International Journal of Immunopathology and Pharmacology, 0

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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."