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Disease on EC 2.7.1.36 - mevalonate kinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abscess
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Acne Vulgaris
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory gene mutations in Behçet's disease.
Autoinflammatory syndromes.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pediatric hereditary autoinflammatory syndromes.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Vasculitis in Systemic Autoinflammatory Diseases.
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Acquired Immunodeficiency Syndrome
Autoinflammatory diseases.
Leishmania donovani Secretory Mevalonate Kinase Regulates Host Immune Response and Facilitates Phagocytosis.
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
adenosine deaminase deficiency
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Amyloidosis
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
What's new in autoinflammation?
Anemia
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
Perinatal Onset Mevalonate Kinase Deficiency.
Anemia, Aplastic
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Angiomyolipoma
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.
Arthralgia
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
Arthritis
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory gene mutations in Behçet's disease.
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Autoinflammatory syndromes.
Diagnosis and management of autoinflammatory diseases in childhood.
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pediatric hereditary autoinflammatory syndromes.
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Vasculitis in Systemic Autoinflammatory Diseases.
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Arthritis, Juvenile
Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Ataxia
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Bronchiolitis
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Carcinogenesis
Armitage-Doll two-stage model: implications and extension.
Incorporating additional biological phenomena into two-stage cancer models.
On the exact hazard and survival functions of the MVK stochastic carcinogenesis model.
On the MVK stochastic carcinogenesis model with Erlang distributed cell life lengths.
Universality of j-shaped and u-shaped dose-response relations as emergent properties of stochastic transition systems.
Carcinoma, Hepatocellular
Enzymatic properties of overexpressed HBV-mevalonate kinase fusion proteins and mevalonate kinase proteins in the human hepatoma cell line PLC/PRF/5.
Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line.
Cataract
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Probing cataractogenesis associated with mevalonic aciduria.
Cerebellar Ataxia
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Cholestasis
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Chondrodysplasia Punctata, Rhizomelic
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.
Colitis
A81: spectrum of mevalonate kinase deficiency: is colitis more common than we think?
Severe early-onset colitis revealing mevalonate kinase deficiency.
Coronary Disease
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
The effect of
Crohn Disease
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Cryopyrin-Associated Periodic Syndromes
A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Autoinflammatory diseases.
Autoinflammatory gene mutations in Behçet's disease.
Autoinflammatory syndromes.
Classification criteria for autoinflammatory recurrent fevers.
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Clinical update on inflammasomopathies.
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Development of the autoinflammatory disease damage index (ADDI).
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
In silico validation of the Autoinflammatory Disease Damage Index.
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Monogenic autoinflammatory syndromes at a dermatological level.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Pediatric hereditary autoinflammatory syndromes.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Periodic fevers and other autoinflammatory diseases.
Recommendations for the management of autoinflammatory diseases.
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Systemic autoinflammatory diseases: Clinical state of the art.
Targeting cytokines to treat autoinflammatory diseases.
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.
The fresco of autoinflammatory diseases from the pediatric perspective.
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Treatment of hereditary autoinflammatory diseases.
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
[Autoinflammatory diseases].
[Autoinflammatory syndromes in childhood].
[Clinical overview of auto-inflammatory diseases].
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
[Periodic fever syndromes].
[Syndrome CINCA/NOMID].
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Cystic Fibrosis
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Cytomegalovirus Infections
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Deficiency Diseases
Farnesyl-diphosphate synthase is localized in peroxisomes.
Mevalonate kinase is predominantly localized in peroxisomes and is defective in patients with peroxisome deficiency disorders.
Dyslipidemias
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Exanthema
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Diagnosis and management of autoinflammatory diseases in childhood.
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Eye Abnormalities
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Familial Mediterranean Fever
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory diseases.
Autoinflammatory diseases: State of the art.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Clinical update on inflammasomopathies.
Development of the autoinflammatory disease damage index (ADDI).
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
In silico validation of the Autoinflammatory Disease Damage Index.
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Monogenic autoinflammatory syndromes at a dermatological level.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Pediatric hereditary autoinflammatory syndromes.
Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.
Periodic fevers and other autoinflammatory diseases.
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Systemic autoinflammatory diseases: Clinical state of the art.
Targeting cytokines to treat autoinflammatory diseases.
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
The fresco of autoinflammatory diseases from the pediatric perspective.
The patient journey to diagnosis and treatment of autoinflammatory diseases.
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Treatment of hereditary autoinflammatory diseases.
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
[Autoinflammatory diseases in childhood.]
[Autoinflammatory diseases].
[Autoinflammatory syndromes in childhood].
[Clinical overview of auto-inflammatory diseases].
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Hyperimmunoglobulinemia D and periodic fever syndrome].
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
[Periodic fever syndromes].
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease]
Fetal Growth Retardation
Perinatal Onset Mevalonate Kinase Deficiency.
Genetic Diseases, Inborn
Alendronate, a double-edged sword acting in the mevalonate pathway.
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.
Glioblastoma
p53 regulates the mevalonate pathway in human glioblastoma multiforme.
PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR.
Glioma
Protein kinase C-dependent cell damage by unsaturated carbonyl compounds in vascular cells.
Hearing Loss
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Hemophilia A
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Hepatitis B
Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line.
Hepatitis, Chronic
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Hereditary Autoinflammatory Diseases
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Classification criteria for autoinflammatory recurrent fevers.
Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation.
Treatment of hereditary autoinflammatory diseases.
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Homozygous Familial Hypercholesterolemia
Control of phosphorylation and decarboxylation of mevalonic acid and its metabolites in cultured human fibroblasts and in rat liver in vivo.
Hydrocephalus
Perinatal Onset Mevalonate Kinase Deficiency.
Hydrops Fetalis
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
Hypergammaglobulinemia
Cloning, expression, and purification of His-tagged rat mevalonate kinase.
Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.
The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.
Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.
Infections
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Molecular Characterization of Trypanosoma evansi Mevalonate Kinase (TeMVK).
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Inflammatory Bowel Diseases
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Ischemic Stroke
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
The effect of
Leishmaniasis
Leishmania donovani Secretory Mevalonate Kinase Regulates Host Immune Response and Facilitates Phagocytosis.
Leukemia
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Leukocytosis
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Liver Diseases
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Perinatal Onset Mevalonate Kinase Deficiency.
Significant liver disease in a patient with Y116H mutation in the MVK gene.
Lung Diseases, Interstitial
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
Lymphadenitis
Classification criteria for autoinflammatory recurrent fevers.
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Lymphadenopathy
Diagnosis and management of autoinflammatory diseases in childhood.
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Macrophage Activation Syndrome
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency: Comment on the Article by Schulert et al.
Meningitis, Aseptic
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
Metabolic Diseases
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Investigation of invariant serine/threonine residues in mevalonate kinase. Tests of the functional significance of a proposed substrate binding motif and a site implicated in human inherited disease.
Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the Eurofever Registry.
Metabolism, Inborn Errors
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Mevalonate Kinase Deficiency
25-Hydroxycholesterol and inflammation in Lovastatin-deregulated mevalonate pathway.
3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.
A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness.
A comparative analysis of serologic parameters and oxidative stress in osteoarthritis and rheumatoid arthritis: reply to Mishra and colleagues.
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
A patient with hyper-IgD syndrome responding to anti-TNF treatment.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.
A role for geranylgeranylation in interleukin-1beta secretion.
A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.
A81: spectrum of mevalonate kinase deficiency: is colitis more common than we think?
AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Advances in basic and clinical immunology in 2016.
Alendronate, a double-edged sword acting in the mevalonate pathway.
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
An intestinal obstruction in an eight-month-old child suffering from mevalonic aciduria.
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.
An Update on Autoinflammatory Diseases: Inflammasomopathies.
Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Anti-inflammatory and cytoprotective effects of a squalene synthase inhibitor, TAK-475 active metabolite-I, in immune cells simulating mevalonate kinase deficiency (MKD)-like condition.
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory diseases.
Autoinflammatory diseases: State of the art.
Autoinflammatory gene mutations in Behçet's disease.
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Autoinflammatory syndromes.
Basic and Clinical Observations of Mevalonate Depletion on the Mevalonate Signalling Pathway.
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
Biochemical and genetic aspects of mevalonate kinase and its deficiency.
Biologic drugs in autoinflammatory syndromes.
Block of the mevalonate pathway triggers oxidative and inflammatory molecular mechanisms modulated by exogenous isoprenoid compounds.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Canakinumab for the treatment of hyperimmunoglobulin D syndrome.
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.
Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome.
Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate.
Classification criteria for autoinflammatory recurrent fevers.
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.
Clinical update on inflammasomopathies.
Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.
Cloning, expression, and purification of His-tagged rat mevalonate kinase.
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency.
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Corrigendum to: Haploidentical ?/? T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab.
Decreased cholesterol levels reflect a consumption of anti-inflammatory isoprenoids associated with an impaired control of inflammation in a mouse model of mevalonate kinase deficiency.
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Defect in mevalonate pathway induces pyroptosis in Raw 264.7 murine monocytes.
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.
Defects in mitochondrial clearance predispose human monocytes to interleukin-1? hypersecretion.
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
Development of the autoinflammatory disease damage index (ADDI).
Diagnosis and management of autoinflammatory diseases in childhood.
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
Different presentations of mevalonate kinase deficiency: a case series.
Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response.
Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene.
Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency.
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency.
Establishment of a transgenic mouse model with liver-specific expression of secretory immunoglobulin D.
Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma.
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Evolutionary hypothesis of the Mevalonate Kinase Deficiency.
Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease.
Expression, purification, and characterization of His20 mutants of rat mevalonate kinase.
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.
Geraniol rescues inflammation in cellular and animal models of mevalonate kinase deficiency.
Geranylgeraniol and Neurological Impairment: Involvement of Apoptosis and Mitochondrial Morphology.
GRID2 a novel gene possibly associated with mevalonate kinase deficiency.
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
HAPLOIDENTICAL ?/? T-CELL AND B-CELL STEM CELL TRANSPLANTATION IN SEVERE MEVALONATE KINASE DEFICIENCY.
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Henoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome.
Hereditary periodic fever syndromes.
Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome.
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Histopathologic features in a case of hyperimmunoglobulinemia D syndrome.
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation.
mevalonate kinase deficiency
Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).
Mevalonate Kinase Deficiency
How to handle the main drugs to treat autoinflammatory disorders and how we treat common autoinflammatory diseases.
Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Hyper-IgD syndrome or mevalonate kinase deficiency.
Hyper-IgD syndrome with novel mutation in a Japanese girl.
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.
Hyperimmunoglobulin D syndrome in childhood.
Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab.
In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
In silico validation of the Autoinflammatory Disease Damage Index.
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children.
Incomplete mitophagy in the mevalonate kinase-deficient Saccharomyces cerevisiae and its relation to the MKD-related autoinflammatory disease in humans.
Inherited disorders of cholesterol biosynthesis.
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?
Knockdown of MVK does not lead to changes in NALP3 expression or activation.
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome.
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Lack of Protein Prenylation Promotes Nlrp3 Inflammasome Assembly in Human Monocytes.
Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria.
Long-Term Follow-Up and Optimization of Interleukin-1 Inhibitors in the Management of Monogenic Autoinflammatory Diseases: Real-Life Data from the JIR Cohort.
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency.
Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line.
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.
Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency.
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.
Mevalonate Kinase Deficiency (Hyper IgD Syndrome with Periodic Fever) - Different Faces with Separate Treatments: Two Cases and Review of the Literature.
Mevalonate kinase deficiency (hyper-IgD syndrome) overlap mutation familial Mediterranean fever.
Mevalonate kinase deficiency and autoinflammation.
Mevalonate kinase deficiency and autoinflammatory disorders.
Mevalonate kinase deficiency and Dutch type periodic fever.
Mevalonate kinase deficiency and IBD: shared genetic background.
Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Mevalonate kinase deficiency associated with recurrent liver dysfunction, macrophage activation syndrome and perforin gene polymorphism.
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.
Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature.
Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.
Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.
Mevalonate kinase deficiency nomenclature.
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Mevalonate kinase deficiency syndrome with structural damage responsive to anakinra.
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Mevalonate kinase deficiency: a survey of 50 patients.
Mevalonate kinase deficiency: current perspectives.
Mevalonate Kinase Deficiency: Diagnostic and Management Challenges.
Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation.
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.
Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria.
Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link.
Mevalonic acidemia: first case of Japan.
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.
Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.
Mevalonic aciduria: report of two cases.
Mevalonolactone disrupts mitochondrial functions and induces permeability transition pore opening in rat brain mitochondria: Implications for the pathogenesis of mevalonic aciduria.
Microglia activation and interaction with neuronal cells in a biochemical model of mevalonate kinase deficiency.
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency.
Monocyte Production of IFN-? Is Interleukin-12 Dependent in a Model of Mevalonate Kinase Deficiency.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory syndromes at a dermatological level.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Mouse model of mevalonate kinase deficiency: comparison of cytokine and chemokine profile with that of human patients.
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
Natural history of mevalonate kinase deficiency: a literature review.
Natural isoprenoids are able to reduce inflammation in a mouse model of mevalonate kinase deficiency.
Neuronal Dysfunction Associated with Cholesterol Deregulation.
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.
On-demand anakinra treatment is effective in mevalonate kinase deficiency.
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.
Outburst of Macrophage Activation Syndrome in Mevalonate Kinase Deficiency: Comment on the Article by Schulert et al.
Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation.
Pediatric hereditary autoinflammatory syndromes.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
Perinatal Onset Mevalonate Kinase Deficiency.
Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.
Periodic fevers and other autoinflammatory diseases.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.
Prenylation defects in inherited retinal diseases.
Probing cataractogenesis associated with mevalonic aciduria.
Prolonged treatment with mevalonolactone induces oxidative stress response with reactive oxygen species production, mitochondrial depolarization and inflammation in human glioblastoma U-87 MG cells.
Putative modifier genes in mevalonate kinase deficiency.
Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.
Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
Recommendations for the management of autoinflammatory diseases.
Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients.
Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency.
Repositioning Of Tak-475 In Mevalonate Kinase Disease: Translating Theory Into Practice.
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
Retinitis pigmentosa and punctate cataracts in mevalonic aciduria.
Retinitis pigmentosa in mevalonate kinase deficiency.
Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
Serum amyloid A (SAA), inflammation, cholesterol and mevalonate kinase deficiency - reply.
Severe early-onset colitis revealing mevalonate kinase deficiency.
Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.
Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation.
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1.
Systemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: a strain-comparative study.
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Systemic autoinflammatory diseases: Clinical state of the art.
Targeting farnesyl-transferase as a novel therapeutic strategy for mevalonate kinase deficiency: in vitro and in vivo approaches.
Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study.
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome.
The effect of clodronate on a mevalonate kinase deficiency cellular model.
The farnesyl transferase inhibitors Tipifarnib and Lonafarnib inhibit cytokines secretion in a cellular model of mevalonate kinase deficiency.
The fresco of autoinflammatory diseases from the pediatric perspective.
The inherited autoinflammatory syndrome: a decade of discovery.
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency.
The lack of non-steroid isoprenoids causes oxidative stress in patients with mevalonic aciduria.
The phenotype and genotype of mevalonate kinase deficiency: A series of 114 cases from the Eurofever Registry.
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease.
TLR2/TLR4-dependent exaggerated cytokine production in hyperimmunoglobulinaemia D and periodic fever syndrome.
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Treatment of hereditary autoinflammatory diseases.
Treatment of hyperimmunoglobulinemia D syndrome with biologics in children: review of the literature and Finnish experience.
Two?gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report.
Unprenylated RhoA contributes to IL-1? hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity.
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Vaccinations in juvenile chronic inflammatory diseases: an update.
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Validation of the new classification criteria for hereditary recurrent fever in an independent cohort: experience from the JIR Cohort Database.
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Vasculitis in Systemic Autoinflammatory Diseases.
Weekly oral alendronate in mevalonate kinase deficiency.
What's new in autoinflammation?
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease.
[Autoinflammatory diseases in childhood.]
[Autoinflammatory syndromes in childhood].
[Clinical overview of auto-inflammatory diseases].
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Mevalonate kinase deficiency in 2016].
[MVK gene abnormality and new approach to treatment of hyper IgD syndrome and periodic fever syndrome]
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
[Periodic fever syndromes].
[Syndrome CINCA/NOMID].
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
[Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease]
Milk Hypersensitivity
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
Mucocutaneous Lymph Node Syndrome
Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease.
Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease.
Murine Acquired Immunodeficiency Syndrome
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Muscle Hypotonia
Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
Muscular Diseases
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Molecular clues into the pathogenesis of statin-mediated muscle toxicity.
Myelodysplastic Syndromes
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Neoplasms
A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
A numerical solution to the nonhomogeneous two-stage MVK model of cancer.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Acknowledgment of Prior Solution to MVK Cancer Model.
An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory diseases.
Autoinflammatory syndromes behind the scenes of recurrent fevers in children.
Biologically based pharmacodynamic models: tools for toxicological research and risk assessment.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
Classification criteria for autoinflammatory recurrent fevers.
Clinical and biochemical landmarks in systemic autoinflammatory diseases.
Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
Comparison of experimental and theoretical parameters of the Moolgavkar-Venzon-Knudson incidence function for the stages of initiation and promotion in rat hepatocarcinogenesis.
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.
Consideration of tissue response in the application of the two-mutation model to radiation carcinogenesis.
Development of the autoinflammatory disease damage index (ADDI).
Diagnosis and management of autoinflammatory diseases in childhood.
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.
Growth Parameters of Turkish Children With an Autoinflammatory Disease Before and After Canakinumab Treatment.
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives.
Improving the Theranostic Potential of Exendin 4 by Reducing the Renal Radioactivity through Brush Border Membrane Enzyme-Mediated Degradation.
In silico validation of the Autoinflammatory Disease Damage Index.
International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.
Laboratory Tests in the Diagnosis and Follow-Up of Pediatric Rheumatic Diseases: An Update.
Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Mechanistic Models Fit to ED001 Data on >40,000 Trout Exposed to Dibenzo[A,L]pyrene Indicate Mutations Do Not Drive Increased Tumor Risk.
Monogenic autoinflammatory syndromes at a dermatological level.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Optimization of Enzymolysis Clearance Strategy To Enhance Renal Clearance of Radioligands.
PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.
PBA Preferentially Impairs Cell Survival of Glioblastomas Carrying mutp53 by Reducing Its Expression Level, Stabilizing wtp53, Downregulating the Mevalonate Kinase and Dysregulating UPR.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Recommendations for the management of autoinflammatory diseases.
Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.
Systemic autoinflammatory diseases: Clinical state of the art.
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
The fresco of autoinflammatory diseases from the pediatric perspective.
The intermediate enzymes of isoprenoid metabolism as anticancer targets.
The patient journey to diagnosis and treatment of autoinflammatory diseases.
The protean ocular involvement in monogenic autoinflammatory diseases: state of the art.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Treatment of hereditary autoinflammatory diseases.
Universality of j-shaped and u-shaped dose-response relations as emergent properties of stochastic transition systems.
Update on the epidemiology and disease outcome of Familial Mediterranean fever.
Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Vasculitis in Systemic Autoinflammatory Diseases.
[Autoinflammatory diseases in childhood.]
[Autoinflammatory syndromes in childhood].
[Periodic fever syndromes].
[The laboratory approach in the diagnosis of systemic autoinflammatory diseases].
Nephritis
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency.
Neuroblastoma
Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency.
Neuroinflammatory Diseases
Knockdown of MVK does not lead to changes in NALP3 expression or activation.
Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis.
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency.
Neurologic Manifestations
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neutropenia
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
ornithine carbamoyltransferase deficiency
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Ornithine Carbamoyltransferase Deficiency Disease
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Osteomyelitis
Autoinflammatory syndromes.
Peroxisomal Disorders
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
Pharyngitis
Classification criteria for autoinflammatory recurrent fevers.
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Performance of the new 'Eurofever/PRINTO classification criteria' in FMF patients.
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.
Phenylketonurias
Coenzyme Q10 in phenylketonuria and mevalonic aciduria.
Porokeratosis
A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.
A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family.
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
Disorder of the mevalonate pathway inhibits calcium-induced differentiation of keratinocytes.
Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate.
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis.
Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis.
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis.
Novel mutation in MVK gene for co-occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica.
Splicing mutation in MVK is a cause of porokeratosis of Mibelli.
The Novel Mevalonate Kinase Mutations Cause Disseminated Superficial Actinic Porokeratosis.
Updating and correcting the description of MVK mutations identified in Chinese patients with disseminated superficial actinic porokeratosis.
Pre-Eclampsia
[Central hemodynamics and kidney function in women with pre-eclampsia]
Prostatic Neoplasms
Inhibiting geranylgeranyl diphosphate synthesis reduces nuclear androgen receptor signaling and neuroendocrine differentiation in prostate cancer cell models.
Psoriasis
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pyelonephritis
[Central hemodynamics and kidney function in women with pre-eclampsia]
Pyoderma Gangrenosum
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Autoinflammatory gene mutations in Behçet's disease.
Autoinflammatory syndromes.
Monogenic Auto-in?ammatory Syndromes: A Review of the Literature.
Monogenic autoinflammatory diseases: concept and clinical manifestations.
Pediatric hereditary autoinflammatory syndromes.
Vasculitis in Systemic Autoinflammatory Diseases.
[Diagnosis and Clinical Examination of Autoinflammatory Syndrome].
[Pathogenesis and Clinical Examination of Autoinflammatory Syndrome].
Renal Insufficiency
Perinatal Onset Mevalonate Kinase Deficiency.
Retinitis Pigmentosa
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa.
Prenylation defects in inherited retinal diseases.
Retinitis pigmentosa in mevalonate kinase deficiency.
Rheumatic Diseases
Vaccinations in juvenile chronic inflammatory diseases: an update.
Sarcoidosis
Autoinflammatory diseases in childhood, part 1: monogenic syndromes.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Simian Acquired Immunodeficiency Syndrome
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
How to prescribe a genetic test for the diagnosis of autoinflammatory diseases?
Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.
The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.
Skin Diseases
Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases.
Smith-Lemli-Opitz Syndrome
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?
Starvation
Effects of different nutritional conditions on chick liver mevalonate-activating enzymes.
Stomatitis, Aphthous
Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition.
Elevated immunoglobulin D levels in children with PFAPA syndrome.
Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre.
Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry.
Thrombocytopenia
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Perinatal Onset Mevalonate Kinase Deficiency.
Urticaria
Autoinflammatory diseases.
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
Vasculitis
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Wiskott-Aldrich Syndrome
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
Zellweger Syndrome
Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver.
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.