メバロン酸キナーゼ
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Ma J, Dempsey AA, Stamatiou D, et al. (2007). “Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.”. Atherosclerosis 191 (1):  63-72. doi:10.1016/j.atherosclerosis.2006.05.032. PMID 16806233.
Willer CJ, Sanna S, Jackson AU, et al. (2008). “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.”. Nat. Genet. 40 (2):  161-9. doi:10.1038/ng.76. PMID 18193043.
Naruto T, Nakagishi Y, Mori M, et al. (2009). “Hyper-IgD syndrome with novel mutation in a Japanese girl.”. Mod Rheumatol 19 (1):  96-9. doi:10.1007/s10165-008-0130-4. PMID 18941711.
Krisans SK (1992). “The role of peroxisomes in cholesterol metabolism.”. Am. J. Respir. Cell Mol. Biol. 7 (4):  358-64. doi:10.1165/ajrcmb/7.4.358. PMID 1356376.
Houten SM, Wanders RJ, Waterham HR (2000). “Biochemical and genetic aspects of mevalonate kinase and its deficiency.”. Biochim. Biophys. Acta 1529 (1-3):  19-32. doi:10.1016/s1388-1981(00)00135-9. PMID 11111075.
Fu Z, Voynova NE, Herdendorf TJ, et al. (2008). “Biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism.”. Biochemistry 47 (12):  3715-24. doi:10.1021/bi7024386. PMID 18302342.
Kathiresan S, Willer CJ, Peloso GM, et al. (2009). “Common variants at 30 loci contribute to polygenic dyslipidemia.”. Nat. Genet. 41 (1):  56-65. doi:10.1038/ng.291. PMC 2881676. PMID 19060906. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2881676/.
Hager EJ, Gibson KM (2007). “Mevalonate kinase deficiency and autoinflammation.”. N. Engl. J. Med. 357 (18):  1871-2. doi:10.1056/NEJMc072799. PMID 17978300.
Marques-Vidal P, Bochud M, Paccaud F, et al. (2010). “No interaction between alcohol consumption and HDL-related genes on HDL cholesterol levels.”. Atherosclerosis 211 (2):  551-7. doi:10.1016/j.atherosclerosis.2010.04.001. PMID 20430392.
Lu Y, DollAc ME, Imholz S, et al. (2008). “Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.”. J. Lipid Res. 49 (12):  2582-9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
Samkari A, Borzutzky A, Fermo E, et al. (2010). “A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.”. Pediatrics 125 (4):  e964-8. doi:10.1542/peds.2009-1774. PMID 20194276.
Nakayama K, Bayasgalan T, Yamanaka K, et al. (2009). “Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.”. J. Med. Genet. 46 (6):  370-4. doi:10.1136/jmg.2008.064063. PMID 19487539.
KonAc-Paut I, Sanchez E, Le Quellec A, et al. (2007). “Autoinflammatory gene mutations in BehA§et's disease.”. Ann. Rheum. Dis. 66 (6):  832-4. doi:10.1136/ard.2006.068841. PMC 1954666. PMID 17213252. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1954666/.
Weissglas-Volkov D, Aguilar-Salinas CA, Sinsheimer JS, et al. (2010). “Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.”. Circ Cardiovasc Genet 3 (1):  31-8. doi:10.1161/CIRCGENETICS.109.908004. PMC 2827864. PMID 20160193. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827864/.
Simon A, van der Meer JW, Vesely R, et al. (2006). “Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.”. Rheumatology (Oxford) 45 (3):  269-73. doi:10.1093/rheumatology/kei138. PMID 16234278.
Gattorno M, Sormani MP, D'Osualdo A, et al. (2008). “A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.”. Arthritis Rheum. 58 (6):  1823-32. doi:10.1002/art.23474. PMID 18512793.
Fogarty MP, Xiao R, Prokunina-Olsson L, et al. (2010). “Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.”. Hum. Mol. Genet. 19 (10):  1921-9. doi:10.1093/hmg/ddq067. PMC 2860891. PMID 20159775. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860891/.
Nair AK, Young MA, Menon KM (2008). “Regulation of luteinizing hormone receptor mRNA expression by mevalonate kinase--role of the catalytic center in mRNA recognition.”. FEBS J. 275 (13):  3397-407. doi:10.1111/j.1742-4658.2008.06490.x. PMID 18494797.
Deo RC, Reich D, Tandon A, et al. (2009). “Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.”. PLoS Genet. 5 (1):  e1000342. doi:10.1371/journal.pgen.1000342. PMC 2613537. PMID 19148283. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613537/.
Junyent M, Parnell LD, Lai CQ, et al. (2009). “Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study.”. Am. J. Clin. Nutr. 90 (3):  686-94. doi:10.3945/ajcn.2009.27738. PMC 2728650. PMID 19605566. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728650/.