Associated Papers
The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases.
La Bella S et al.
Frontiers in Immunology, 2023
Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.
Munoz MA et al.
The Journal of Clinical Investigation, 2022
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Tanaka T et al.
Modern Rheumatology, 2019
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa R et al.
Orphanet Journal of Rare Diseases, 2017
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.
Munoz MA et al.
The Journal of Allergy and Clinical Immunology, 2017
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2016
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.
Jurczyluk J et al.
Immunology and Cell Biology, 2016
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C et al.
Annals of Human Genetics, 2015
26420133 (PubMed )
Supplement: supplement_1.zip › Supplementary_Table_S1.xlsx › Sheet1
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
D'Osualdo A et al.
European Journal of Human Genetics : Ejhg, 2005
A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome.
Simon A et al.
The American Journal of Medicine, 2003
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Cuisset L et al.
European Journal of Human Genetics : Ejhg, 2001
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