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Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
Péterfy M, Ben-Zeev O, Mao HZ, Weissglas-Volkov D, Aouizerat BE, Pullinger CR, Frost PH, Kane JP, Malloy MJ, Reue K, Pajukanta P, Doolittle MH. Péterfy M, et al. Among authors: pullinger cr. Nat Genet. 2007 Dec;39(12):1483-7. doi: 10.1038/ng.2007.24. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994020
WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels.
Lee JC, Weissglas-Volkov D, Kyttälä M, Dastani Z, Cantor RM, Sobel EM, Plaisier CL, Engert JC, van Greevenbroek MM, Kane JP, Malloy MJ, Pullinger CR, Huertas-Vazquez A, Aguilar-Salinas CA, Tusie-Luna T, de Bruin TW, Aouizerat BE, van der Kallen CC, Croce CM, Aqeilan RI, Marcil M, Viikari JS, Lehtimäki T, Raitakari OT, Kuusisto J, Laakso M, Taskinen MR, Genest J, Pajukanta P. Lee JC, et al. Among authors: pullinger cr. Am J Hum Genet. 2008 Aug;83(2):180-92. doi: 10.1016/j.ajhg.2008.07.002. Am J Hum Genet. 2008. PMID: 18674750 Free PMC article.
Galanin preproprotein is associated with elevated plasma triglycerides.
Plaisier CL, Kyttälä M, Weissglas-Volkov D, Sinsheimer JS, Huertas-Vazquez A, Riba L, Ramírez-Jiménez S, de Bruin TW, Tusié-Luna T, Aouizerat BE, Pullinger CR, Malloy MJ, Kane JP, Cruz-Bautista I, Herrera MF, Aguilar-Salinas C, Kuusisto J, Laakso M, Taskinen MR, van der Kallen CJ, Pajukanta P. Plaisier CL, et al. Among authors: pullinger cr. Arterioscler Thromb Vasc Biol. 2009 Jan;29(1):147-52. doi: 10.1161/ATVBAHA.108.178533. Epub 2008 Nov 6. Arterioscler Thromb Vasc Biol. 2009. PMID: 18988886 Free PMC article.
Severe hypertriglyceridemia is primarily polygenic.
Dron JS, Wang J, Cao H, McIntyre AD, Iacocca MA, Menard JR, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP, Hegele RA. Dron JS, et al. Among authors: pullinger cr. J Clin Lipidol. 2019 Jan-Feb;13(1):80-88. doi: 10.1016/j.jacl.2018.10.006. Epub 2018 Oct 24. J Clin Lipidol. 2019. PMID: 30466821 Free article.
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Calton MA, et al. Among authors: pullinger cr. Hum Mol Genet. 2009 Mar 15;18(6):1140-7. doi: 10.1093/hmg/ddn431. Epub 2008 Dec 17. Hum Mol Genet. 2009. PMID: 19091795 Free PMC article.
139 results