Associated Papers
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.
Yang Y et al.
The British Journal of Dermatology, 2026
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort.
Guan C et al.
Pediatric Rheumatology Online Journal, 2025
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review.
Li Y et al.
Pediatric Rheumatology Online Journal, 2024
Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
Li L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Boursier G et al.
Journal of Clinical Medicine, 2021
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Gaggiano C et al.
Mediators of Inflammation, 2019
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME et al.
Journal of Medical Genetics, 2018
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
Rafiq NK et al.
Case Reports in Pediatrics, 2018
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
Li M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z et al.
Elife, 2015
A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
Lu WS et al.
Molecular Biology Reports, 2014
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Li C et al.
Journal of Dermatological Science, 2014
Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
Lu WS et al.
International Journal of Clinical and Experimental Pathology, 2014
Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.
von Linstow ML et al.
Case Reports in Pediatrics, 2014
Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Dai J et al.
Journal of Dermatological Science, 2013
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Lainka E et al.
Rheumatology International, 2012
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Zhang SQ et al.
Nature Genetics, 2012
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH et al.
Human Mutation, 2006
Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.
Qian W et al.
Indian Journal of Dermatology, 0