| 1 | EIF5A, LHCGR, MVK
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| LHCGR Expression During FSH-Induced Follicle Growth is Negatively Regulated by Eukaryotic Initiation Factor 5A.
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| Gulappa T, Menon B, Menon KMJ.
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| Endocrinology ndocrinology. 2017 Jun 9. doi: 10.1210/en.2017-00113. [Epub ahead of print]
2017
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| 2 | MVK, POROK3
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| Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis.
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| Liu Y, Wang J, Qin Y, Huang C, Archacki S, Ma J, Li D, Liu M.
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| Clin Chim Acta 454:124-9. doi: 10.1016/j.cca.2016.01.009. Epub 2016 Jan 12.
2016
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| 3 | MVK
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| Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity.
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| Reitzle L, Maier B, Stojanov S, Teupser D, Muntau AC, Vogeser M, Gersting SW.
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| Clin Biochem 48(12):781-7. doi: 10.1016/j.clinbiochem.2015.05.007. Epub 2015 May 13.
2015
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| 4 | MVK, POROK3
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| A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
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| Lu WS, Zheng XD, Yao XH, Zhang LF, Wang MQ, Jiang FX, Zhang SP, Hu B.
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| Mol Biol Rep 41(11):7229-33. doi: 10.1007/s11033-014-3609-4. Epub 2014 Jul 25.
2014
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| 5 | MVK, POROK3
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| Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis.
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| Zhou Y, Liu J, Fu X, Yu Y, Shi B, Yu G, Shi Z, Wu W, Pan F, Tian H, Liu H, Zhang F.
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| Br J Dermatol 169(1):193-5. doi: 10.1111/bjd.12224. No abstract available.
2013
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| 6 | MVK, POROK3
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| Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
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| Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ.
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| Nat Genet 44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16.
2012
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| 7 | HIDS, MVK
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| Hyper-IgD syndrome with novel mutation in a Japanese girl.
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| Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S.
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| Mod Rheumatol 19(1):96-9. doi: 10.1007/s10165-008-0130-4. Epub 2008 Oct 22.
2009
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| 8 | LHCGR, MVK
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| Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase--role of the catalytic center in mRNA recognition.
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| Nair AK, Young MA, Menon KM.
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| FEBS J 275(13):3397-407. doi: 10.1111/j.1742-4658.2008.06490.x. Epub 2008 May 20.
2008
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| 9 | HIDS, MVK, MVKD
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| MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.
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| D'Osualdo A, Picco P, Caroli F, Gattorno M, Giacchino R, Fortini P, Corona F, Tommasini A, Salvi G, Specchia F, Obici L, Meini A, Ricci A, Seri M, Ravazzolo R, Martini A, Ceccherini I.
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| Eur J Hum Genet 13(3):314-20. 2005
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| 10 | HIDS, MVK, MVKD, TNFRSF1A, TRAPS
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| 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.
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| Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kery A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
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| Arthritis Rheum 50(6):1951-8. 2004
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| 11 | MVK
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| Isolation and characterization of a novel trans-factor for luteinizing hormone receptor mRNA from ovary.
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| Nair AK, Menon KM.
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| J Biol Chem 279(15):14937-44. Epub 2004 Jan 28. 2004
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| 12 | HIDS, MVK, MVKD
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| Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
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| Cuisset L, Drenth JP, Simon A, Vincent MF, van Der Velde Visser S, van Der Meer JW, Grateau G, Delpech M.
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| Eur J Hum Genet 9(4):260-6. 2001
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| 13 | HIDS, MVK, MVKD
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| Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
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| Houten SM, Koster J, Romeijn GJ, Frenkel J, Di Rocco M, Caruso U, Landrieu P, Kelley RI, Kuis W, Poll-The BT, Gibson KM, Wanders RJ, Waterham HR.
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| Eur J Hum Genet 9(4):253-9. 2001
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| 14 | HIDS, MVK, MVKD
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| Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
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| Houten SM, et al.
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| Nat Genet 22(2):175-7. 1999
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| 15 | HIDS, MVK, MVKD
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| Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
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| Drenth JP, et al.
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| Nat Genet 22(2):178-81. 1999
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| 16 | MVK, MVKD
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| Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
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| Houten SM, et al.
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| Hum Mol Genet 8(8):1523-8. 1999
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| 17 | MVK, MVKD
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| Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
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| Hinson DD, et al.
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| Am J Hum Genet 65(2):327-35 1999
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| 18 | MVK
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| Mevalonate kinase map position 12q24.
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| Gibson KM, et al.
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| Chromosome Res 5 : 150. 1997
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| 19 | MVK, MVKD
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| Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
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| Hoffmann GF, et al.
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| Pediatrics 91 : 915-921. 1993
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| 20 | MVK
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| Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
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| Schafer BL, et al.
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| J Biol Chem 267 : 13229-13238. 1992
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