| Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype. | Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Politiek FA, Turkenburg M, Ofman R, Waterham HR., Free PMC Article | 04/3/2024 |
| A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis. | A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.
Hui HZ, Wang YJ, Cheng JR, Mao H, Guo HX, Shi BJ. | 08/7/2023 |
| Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. | Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D, Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). | 01/29/2022 |
| Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. | Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
Li L, Zuo N, Yang D, Zhang D, Feng Y, Li X. | 12/11/2021 |
| Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. | Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Govindaraj GM, Jain A, Peethambaran G, Bhoyar RC, Vellarikkal SK, Ganapati A, Sandhya P, Edavazhippurath A, Dhanasooraj D, Puthenpurayil JM, Chakkiyar K, Mishra A, Batra A, Punnen A, Kumar S, Sivasubbu S, Scaria V., Free PMC Article | 10/24/2020 |
| Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency. | Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Munoz MA, Jurczyluk J, Simon A, Hissaria P, Arts RJW, Coman D, Boros C, Mehr S, Rogers MJ., Free PMC Article | 10/10/2020 |
| Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. | Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.
Zhu T, Tian D, Zhang L, Xu X, Xia K, Hu Z, Xiong Z, Tan J. | 09/26/2020 |
| Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK | Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, Fujita H, Ono N, Umegaki-Arao N, Kawai T, Nakabayashi K, Hata K, Yamada D, Matsubara Y, Kosaki K, Amagai M. | 06/6/2020 |
| In this study, we discussed the clinical effects of eight different variants we have detected in the MVK, TNFRSF1A and NLRP3 genes. Four of them were previously identified in patients with Periodic fever syndromes | Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.
Ozyilmaz B, Kirbiyik O, Koc A, Ozdemir TR, Kaya Ozer O, Kutbay YB, Erdogan KM, Saka Guvenc M, Ozturk C. | 02/1/2020 |
| In rare cases, periodic fever and inflammatory symptoms in adults can be attributed to mutations in NLRP3, MVK and TNFRSF1A. | Analysis of NLRP3, MVK and TNFRSF1A variants in adult Greek patients with autoinflammatory symptoms.
Karagianni P, Nezos A, Ioakeim F, Tzioufas AG, Moutsopoulos HM. | 03/9/2019 |
| this study demonstrates mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae | Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
Dunn K, Pasternak B, Kelsen JR, Sullivan KE, Dawany N, Wright BL., Free PMC Article | 01/12/2019 |
| The findings suggest that the MVK rs2287218 SNP is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels in our study populations. | Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study.
Wang DS, Yin RX, Li KG, Lu L, Su Y, Yan RQ. | 12/22/2018 |
| Case Report: homozygous missense p.Cys161Arg in MVK was identified in family members with familial Mediterranean fever. | Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.
Karacan İ, Uğurlu S, Tolun A, Tahir Turanlı E, Ozdogan H. | 02/17/2018 |
| Mevalonate kinase deficiency (MKD) can be associated with retinitis pigmentosa (RP) and early onset cataract. Most MKD patients developing RP carry the (p.Ala334Thr) mutation. | Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.
Kellner U, Stöhr H, Weinitz S, Farmand G, Weber BHF. | 12/2/2017 |
| In a cohort of mevalonate kinase deficiency patients, ninety-six (84%) of the patients harbored at least 1 p.V377I mutation, 14 (12%) of which were homozygous. The second most frequent mutation was p.I268T, occurring in 29 (25%) of the patients. None of them were p.I268T homozygous. A p.C152Y mutation was found in 1 patient. | The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M, Paediatric Rheumatology International Trials Organisation and Eurofever Project. | 07/15/2017 |
| These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. | Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
Sun J, Qian Y, Jiang Y, Chen J, Dai J, Jin G, Wang J, Hu Z, Liu S, Shen C, Shen H., Free PMC Article | 04/8/2017 |
| this study extends the mutation spectrum of MVK; MVK protein stability and correct folding might be the molecular mechanism causing disseminated superficial actinic porokeratosis | Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
Liu Y, Wang J, Qin Y, Huang C, Archacki S, Ma J, Li D, Liu M. | 10/22/2016 |
| Wild-type MK and the variant V261A, which is associated with HIDS, were recombinantly expressed in Escherichia coli. Enzyme activity was determined by formation of MVAP over time | Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
Reitzle L, Maier B, Stojanov S, Teupser D, Muntau AC, Vogeser M, Gersting SW. | 05/28/2016 |
| predictive analysis of mutations in MVK to predict disease severity | In Silico Prediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency.
Browne C, Timson DJ. | 01/30/2016 |
| study reports a novel mutation of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis (DSAP); result confirms the involvement of MVK gene in DSAP | A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
Lu WS, Zheng XD, Yao XH, Zhang LF, Wang MQ, Jiang FX, Zhang SP, Hu B. | 07/25/2015 |
| mutations are responsible for porokeratosis of Mibelli development in Chinese families | Splicing mutation in MVK is a cause of porokeratosis of Mibelli.
Zeng K, Zhang QG, Li L, Duan Y, Liang YH. | 06/20/2015 |
| results from this 4 generation family imply a causal relationship between MVK and perokeratosis. | A novel mutation for disseminated superficial actinic porokeratosis in the MVK gene.
Zhou MS, Xie HF, Chen ML, Jian D, Liu FF, Chen X, Shen N, Si N, Li J. | 05/16/2015 |
| Results suggest that the effects of MVK mutations in Behcet's disease could be an additional genetic susceptibility factor for the patients with neurological involvement. | Mevalonate kinase gene mutations and their clinical correlations in Behçet's disease.
Arslan Taş D, Erken E, Yildiz F, Dinkçi S, Sakalli H. | 01/17/2015 |
| The testing for the Hyper IgD Syndrome was positive for the pV377I/c.1129 G>A heterozygosity in a patient with periodic fever. | Periodic fevers in adult Greeks: clinical and molecular presentation.
Karatsourakis TP, Oikonomaki KN, Tzioufas AG, Moutsopoulos HM. | 12/6/2014 |
| Report a novel missense mutation in mevalonate kinase responsible for disseminated superficial actinic porokeratosis. | Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
Lu WS, Zheng XD, Yao XH, Zhang LF, Hu B, Lu YJ., Free PMC Article | 10/18/2014 |