Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p. S474X p.Ser474Stop S474X (Ser447Stop S447X in the mature protein which do not count signal peptide). rs328. The mutation is due to a C-G transversion, restriction site Hinf-1 in the presence of the mutation G allele. Although Faustinella et al. (1991) considered this a polymorphism of no functional significance, Kobayashi et al. (1992), who found it in heterozygous state in a patient with LPL deficiency (238600), thought it might contribute. Both parents had about half-normal LPL activity\; hence, the heterozygous S474X mutation cannot be solely responsible for type I hyperlipidemia in that case.
| Title : Preclinical Development and Characterization of Novel Adeno-Associated Viral Vectors for the Treatment of Lipoprotein Lipase Deficiency - Mehta_2023_Hum.Gene.Ther__ |
| Author(s) : Mehta N , Gilbert R , Chahal PS , Moreno MJ , Nassoury N , Coulombe N , Lytvyn V , Mercier M , Fatehi D , Lin W , Harvey EM , Zhang LH , Moghaddam NN , Elahi SM , Ross CJD , Stanimirovic DB , Hayden MR |
| Ref : Hum Gene Therapy , : , 2023 |
| Abstract : |
| PubMedSearch : Mehta_2023_Hum.Gene.Ther__ |
| PubMedID: 37597209 |
| Gene_locus related to this paper: human-LPL |
| Title : The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants - Shestopalov_2023_J.Obes_2023_7392513 |
| Author(s) : Shestopalov AV , Davydov VV , Tumanyan GT , Teplyakova ED , Shkurat TP , Mashkina EV , Shkurat MA , Gaponov AM , Sadova AA , Borisenko OV , Roumiantsev SA |
| Ref : J Obes , 2023 :7392513 , 2023 |
| Abstract : |
| PubMedSearch : Shestopalov_2023_J.Obes_2023_7392513 |
| PubMedID: 37901192 |
| Gene_locus related to this paper: human-LPL |
| Title : Corrigendum to Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran [Gene 706 (2019) 13-18] - |
| Author(s) : Alinaghian N , Abdollahi E , Torab M , Khodaparast M , Zamani F , Rahimi-Moghaddam P |
| Ref : Gene , 725 :144152 , 2020 |
| PubMedID: 31614191 |
| Gene_locus related to this paper: human-LPL |
| Title : The association of the S447X mutation in LPL with Coronary artery disease: a meta-analysis - Sun_2019_Minerva.Cardioangiol_67_246 |
| Author(s) : Sun W , Wu Y , Wen Y , Guo M , Zhang H |
| Ref : Minerva Cardioangiol , 67 :246 , 2019 |
| Abstract : |
| PubMedSearch : Sun_2019_Minerva.Cardioangiol_67_246 |
| PubMedID: 29687697 |
| Gene_locus related to this paper: human-LPL |
| Title : Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake - Hayne_2017_Biochemistry_56_525 |
| Author(s) : Hayne CK , Lafferty MJ , Eglinger BJ , Kane JP , Neher SB |
| Ref : Biochemistry , 56 :525 , 2017 |
| Abstract : |
| PubMedSearch : Hayne_2017_Biochemistry_56_525 |
| PubMedID: 27984852 |
| Gene_locus related to this paper: human-LPL |
| Title : Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease - Ren_2016_Neurosci.Lett_619_73 |
| Author(s) : Ren L , Ren X |
| Ref : Neuroscience Letters , 619 :73 , 2016 |
| Abstract : |
| PubMedSearch : Ren_2016_Neurosci.Lett_619_73 |
| PubMedID: 26975783 |
| Title : The Association of Lipoprotein Lipase Genes, HindIII and S447X Polymorphisms With Coronary Artery Disease in Shiraz City - Ahmadi_2015_J.Cardiovasc.Thorac.Res_7_63 |
| Author(s) : Ahmadi Z , Senemar S , Toosi S , Radmanesh S |
| Ref : J Cardiovasc Thorac Res , 7 :63 , 2015 |
| Abstract : |
| PubMedSearch : Ahmadi_2015_J.Cardiovasc.Thorac.Res_7_63 |
| PubMedID: 26191394 |
| Title : The lipoprotein lipase S447X and cholesteryl ester transfer protein rs5882 polymorphisms and their relationship with lipid profile in human serum of obese individuals - Emamian_2015_Gene_558_195 |
| Author(s) : Emamian M , Avan A , Pasdar A , Mirhafez SR , Sadeghzadeh M , Moghadam MS , Parizadeh SM , Ferns GA , Ghayour-Mobarhan M |
| Ref : Gene , 558 :195 , 2015 |
| Abstract : |
| PubMedSearch : Emamian_2015_Gene_558_195 |
| PubMedID: 25579610 |
| Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F |
| Ref : Clinica Chimica Acta , 429 :61 , 2014 |
| Abstract : |
| PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| PubMedID: 24291057 |
| Gene_locus related to this paper: human-LPL |
| Title : Associations of three lipoprotein lipase gene polymorphisms, lipid profiles and coronary artery disease - Daoud_2013_Biomed.Rep_1_573 |
| Author(s) : Daoud MS , Ataya FS , Fouad D , Alhazzani A , Shehata AI , Al-Jafari AA |
| Ref : Biomed Rep , 1 :573 , 2013 |
| Abstract : |
| PubMedSearch : Daoud_2013_Biomed.Rep_1_573 |
| PubMedID: 24648989 |
| Title : The lipoprotein lipase (LPL) S447X gain of function variant involves increased mRNA translation - Ranganathan_2012_Atherosclerosis_221_143 |
| Author(s) : Ranganathan G , Unal R , Pokrovskaya ID , Tripathi P , Rotter JI , Goodarzi MO , Kern PA |
| Ref : Atherosclerosis , 221 :143 , 2012 |
| Abstract : |
| PubMedSearch : Ranganathan_2012_Atherosclerosis_221_143 |
| PubMedID: 22244040 |
| Title : Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia - Surendran_2012_J.Intern.Med_272_185 |
| Author(s) : Surendran RP , Visser ME , Heemelaar S , Wang J , Peter J , Defesche JC , Kuivenhoven JA , Hosseini M , Peterfy M , Kastelein JJ , Johansen CT , Hegele RA , Stroes ES , Dallinga-Thie GM |
| Ref : J Intern Med , 272 :185 , 2012 |
| Abstract : |
| PubMedSearch : Surendran_2012_J.Intern.Med_272_185 |
| PubMedID: 22239554 |
| Gene_locus related to this paper: human-LPL |
| Title : Meta-based association of the lipoprotein lipase gene S447X variant with hypertension and blood pressure variation - Niu_2011_J.Hum.Hypertens_25_383 |
| Author(s) : Niu WQ , Qi Y |
| Ref : J Hum Hypertens , 25 :383 , 2011 |
| Abstract : |
| PubMedSearch : Niu_2011_J.Hum.Hypertens_25_383 |
| PubMedID: 20596061 |
| Title : Association of lipase lipoprotein polymorphisms with high-density lipoprotein and triglycerides in elderly men - Araujo_2010_Genet.Mol.Res_9_89 |
| Author(s) : Araujo LM , Cendoroglo MS , Gigek CO , Chen ES , Smith MD |
| Ref : Genet Mol Res , 9 :89 , 2010 |
| Abstract : |
| PubMedSearch : Araujo_2010_Genet.Mol.Res_9_89 |
| PubMedID: 20108206 |
| Title : Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency - Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| Author(s) : Burnett JR , Hooper AJ |
| Ref : Curr Opin Mol Ther , 11 :681 , 2009 |
| Abstract : |
| PubMedSearch : Burnett_2009_Curr.Opin.Mol.Ther_11_681 |
| PubMedID: 20072945 |
| Title : Genetic polymorphism of S447X lipoprotein lipase (LPL) and the susceptibility to hypertension - Salah_2009_J.Crit.Care_24_e11 |
| Author(s) : Salah A , Khan M , Esmail N , Habibullah S , Al Lahham Y |
| Ref : J Crit Care , 24 :e11 , 2009 |
| Abstract : |
| PubMedSearch : Salah_2009_J.Crit.Care_24_e11 |
| PubMedID: 19664517 |
| Title : Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension - Kokubo_2006_Hypertens.Res_29_611 |
| Author(s) : Kokubo Y , Tomoike H , Tanaka C , Banno M , Okuda T , Inamoto N , Kamide K , Kawano Y , Miyata T |
| Ref : Hypertens Res , 29 :611 , 2006 |
| Abstract : |
| PubMedSearch : Kokubo_2006_Hypertens.Res_29_611 |
| PubMedID: 17137217 |
| Gene_locus related to this paper: human-LIPC |
| Title : Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation - Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236 |
| Author(s) : Rip J , Nierman MC , Ross CJ , Jukema JW , Hayden MR , Kastelein JJ , Stroes ES , Kuivenhoven JA |
| Ref : Arterioscler Thromb Vasc Biol , 26 :1236 , 2006 |
| Abstract : |
| PubMedSearch : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236 |
| PubMedID: 16574898 |
| Title : Carriers of the frequent lipoprotein lipase S447X variant exhibit enhanced postprandial apoprotein B-48 clearance - Nierman_2005_Metabolism_54_1499 |
| Author(s) : Nierman MC , Rip J , Kuivenhoven JA , van Raalte DH , Hutten BA , Sakai N , Kastelein JJ , Stroes ES |
| Ref : Metabolism , 54 :1499 , 2005 |
| Abstract : |
| PubMedSearch : Nierman_2005_Metabolism_54_1499 |
| PubMedID: 16253639 |
| Title : Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000 - Arai_2005_J.Atheroscler.Thromb_12_240 |
| Author(s) : Arai H , Yamamoto A , Matsuzawa Y , Saito Y , Yamada N , Oikawa S , Mabuchi H , Teramoto T , Sasaki J , Nakaya N , Itakura H , Ishikawa Y , Ouchi Y , Horibe H , Egashira T , Hattori H , Shirahashi N , Kita T |
| Ref : J Atheroscler Thromb , 12 :240 , 2005 |
| Abstract : |
| PubMedSearch : Arai_2005_J.Atheroscler.Thromb_12_240 |
| PubMedID: 16205020 |
| Title : The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism - Lopez-Miranda_2004_J.Clin.Endocrinol.Metab_89_4721 |
| Author(s) : Lopez-Miranda J , Cruz G , Gomez P , Marin C , Paz E , Perez-Martinez P , Fuentes FJ , Ordovas JM , Perez-Jimenez F |
| Ref : J Clinical Endocrinology Metab , 89 :4721 , 2004 |
| Abstract : |
| PubMedSearch : Lopez-Miranda_2004_J.Clin.Endocrinol.Metab_89_4721 |
| PubMedID: 15356086 |
| Title : Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study - Xin_2003_Metabolism_52_1337 |
| Author(s) : Xin X , Srinivasan SR , Chen W , Boerwinkle E , Berenson GS |
| Ref : Metabolism , 52 :1337 , 2003 |
| Abstract : |
| PubMedSearch : Xin_2003_Metabolism_52_1337 |
| PubMedID: 14564687 |
| Title : Influence of common variants in the CETP, LPL, HL and APO E genes on LDL heterogeneity in healthy, middle-aged men - Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| Author(s) : Skoglund-Andersson C , Ehrenborg E , Fisher RM , Olivecrona G , Hamsten A , Karpe F |
| Ref : Atherosclerosis , 167 :311 , 2003 |
| Abstract : |
| PubMedSearch : Skoglund-Andersson_2003_Atherosclerosis_167_311 |
| PubMedID: 12818414 |
| Title : Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a common trait? - Morabia_2003_Genet.Epidemiol_24_309 |
| Author(s) : Morabia A , Cayanis E , Costanza MC , Ross BM , Bernstein MS , Flaherty MS , Alvin GB , Das K , Morris MA , Penchaszadeh GK , Zhang P , Gilliam TC |
| Ref : Genet Epidemiol , 24 :309 , 2003 |
| Abstract : |
| PubMedSearch : Morabia_2003_Genet.Epidemiol_24_309 |
| PubMedID: 12687649 |
| Title : Lipoprotein lipase gene polymorphisms in Croatian patients with coronary artery disease - Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| Author(s) : Ferencak G , Pasalic D , Grskovic B , Cheng S , Fijal B , Sesto M , Skodlar J , Rukavina AS |
| Ref : Clinical Chemistry & Laboratory Medicine , 41 :541 , 2003 |
| Abstract : |
| PubMedSearch : Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| PubMedID: 12747600 |
| Title : Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus - Corella_2002_J.Lipid.Res_43_416 |
| Author(s) : Corella D , Guillen M , Saiz C , Portoles O , Sabater A , Folch J , Ordovas JM |
| Ref : J Lipid Res , 43 :416 , 2002 |
| Abstract : |
| PubMedSearch : Corella_2002_J.Lipid.Res_43_416 |
| PubMedID: 11893778 |
| Title : Lipoprotein lipase polymorphisms and responses to long-term overfeeding - Ukkola_2002_J.Intern.Med_251_429 |
| Author(s) : Ukkola O , Tremblay A , Bouchard C |
| Ref : J Intern Med , 251 :429 , 2002 |
| Abstract : |
| PubMedSearch : Ukkola_2002_J.Intern.Med_251_429 |
| PubMedID: 11982743 |
| Title : Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia - Campagna_2002_Metabolism_51_1298 |
| Author(s) : Campagna F , Montali A , Baroni MG , Maria AT , Ricci G , Antonini R , Verna R , Arca M |
| Ref : Metabolism , 51 :1298 , 2002 |
| Abstract : |
| PubMedSearch : Campagna_2002_Metabolism_51_1298 |
| PubMedID: 12370850 |
| Title : Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men - Talmud_2002_Ann.Hum.Genet_66_111 |
| Author(s) : Talmud PJ , Hawe E , Robertson K , Miller GJ , Miller NE , Humphries SE |
| Ref : Ann Hum Genet , 66 :111 , 2002 |
| Abstract : |
| PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111 |
| PubMedID: 12174215 |
| Title : Evidence of LPL gene-exercise interaction for body fat and LPL activity: the HERITAGE Family Study - Garenc_2001_J.Appl.Physiol_91_1334 |
| Author(s) : Garenc C , Perusse L , Bergeron J , Gagnon J , Chagnon YC , Borecki IB , Leon AS , Skinner JS , Wilmore JH , Rao DC , Bouchard C |
| Ref : J Appl Physiol , 91 :1334 , 2001 |
| Abstract : |
| PubMedSearch : Garenc_2001_J.Appl.Physiol_91_1334 |
| PubMedID: 11509533 |
| Title : Influence of lipoprotein lipase serine 447 stop polymorphism on tracking of triglycerides and HDL cholesterol from childhood to adulthood and familial risk of coronary artery disease: the Bogalusa heart study - Chen_2001_Atherosclerosis_159_367 |
| Author(s) : Chen W , Srinivasan SR , Elkasabany A , Ellsworth DL , Boerwinkle E , Berenson GS |
| Ref : Atherosclerosis , 159 :367 , 2001 |
| Abstract : |
| PubMedSearch : Chen_2001_Atherosclerosis_159_367 |
| PubMedID: 11730816 |
| Title : Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese - Shimo-Nakanishi_2001_Stroke_32_1481 |
| Author(s) : Shimo-Nakanishi Y , Urabe T , Hattori N , Watanabe Y , Nagao T , Yokochi M , Hamamoto M , Mizuno Y |
| Ref : Stroke , 32 :1481 , 2001 |
| Abstract : |
| PubMedSearch : Shimo-Nakanishi_2001_Stroke_32_1481 |
| PubMedID: 11441189 |
| Title : The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease - Clee_2001_Clin.Genet_60_293 |
| Author(s) : Clee SM , Loubser O , Collins J , Kastelein JJ , Hayden MR |
| Ref : Clin Genet , 60 :293 , 2001 |
| Abstract : |
| PubMedSearch : Clee_2001_Clin.Genet_60_293 |
| PubMedID: 11683775 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variation at the lipoprotein lipase locus and plasma lipoprotein and insulin levels in the Quebec Family Study - Ukkola_2001_Atherosclerosis_158_199 |
| Author(s) : Ukkola O , Garenc C , Perusse L , Bergeron J , Despres JP , Rao DC , Bouchard C |
| Ref : Atherosclerosis , 158 :199 , 2001 |
| Abstract : |
| PubMedSearch : Ukkola_2001_Atherosclerosis_158_199 |
| PubMedID: 11500192 |
| Title : Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids - van Bockxmeer_2001_Atherosclerosis_157_123 |
| Author(s) : van Bockxmeer FM , Liu Q , Mamotte C , Burke V , Taylor R |
| Ref : Atherosclerosis , 157 :123 , 2001 |
| Abstract : |
| PubMedSearch : van Bockxmeer_2001_Atherosclerosis_157_123 |
| PubMedID: 11427211 |
| Title : Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study - Myllykangas_2001_Ann.Med_33_486 |
| Author(s) : Myllykangas L , Polvikoski T , Sulkava R , Notkola IL , Rastas S , Verkkoniemi A , Tienari PJ , Niinisto L , Hardy J , Perez-Tur J , Kontula K , Haltia M |
| Ref : Ann Med , 33 :486 , 2001 |
| Abstract : |
| PubMedSearch : Myllykangas_2001_Ann.Med_33_486 |
| PubMedID: 11680797 |
| Title : Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population - Hubacek_2001_Physiol.Res_50_345 |
| Author(s) : Hubacek JA , Waterworth DM , Pitha J , Humphries SE , Talmud PJ , Poledne R |
| Ref : Physiol Res , 50 :345 , 2001 |
| Abstract : |
| PubMedSearch : Hubacek_2001_Physiol.Res_50_345 |
| PubMedID: 11551139 |
| Title : The Ser(447)-Stop polymorphism of lipoprotein lipase is associated with variation in longitudinal serum high-density lipoprotein-cholesterol profiles: the Bogalusa Heart Study - Hallman_2001_Metabolism_50_894 |
| Author(s) : Hallman DM , Srinivasan SR , Elkasabany A , Boerwinkle E , Berenson GS |
| Ref : Metabolism , 50 :894 , 2001 |
| Abstract : |
| PubMedSearch : Hallman_2001_Metabolism_50_894 |
| PubMedID: 11474476 |
| Title : Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy - McGladdery_2001_J.Lipid.Res_42_1905 |
| Author(s) : McGladdery SH , Frohlich JJ |
| Ref : J Lipid Res , 42 :1905 , 2001 |
| Abstract : |
| PubMedSearch : McGladdery_2001_J.Lipid.Res_42_1905 |
| PubMedID: 11714860 |
| Title : Linkage and association studies of the lipoprotein lipase gene with postheparin plasma lipase activities, body fat, and plasma lipid and lipoprotein concentrations: the HERITAGE Family Study - Garenc_2000_Metabolism_49_432 |
| Author(s) : Garenc C , Perusse L , Gagnon J , Chagnon YC , Bergeron J , Despres JP , Province MA , Leon AS , Skinner JS , Wilmore JH , Rao DC , Bouchard C |
| Ref : Metabolism , 49 :432 , 2000 |
| Abstract : |
| PubMedSearch : Garenc_2000_Metabolism_49_432 |
| PubMedID: 10778864 |
| Title : Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study - Hall_2000_Genet.Epidemiol_18_203 |
| Author(s) : Hall S , Talmud PJ , Cook DG , Wicks PD , Rothwell MJ , Strazzullo P , Sagnella GA , Cappuccio FP |
| Ref : Genet Epidemiol , 18 :203 , 2000 |
| Abstract : |
| PubMedSearch : Hall_2000_Genet.Epidemiol_18_203 |
| PubMedID: 10723106 |
| Title : The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis - Arca_2000_Clin.Genet_58_369 |
| Author(s) : Arca M , Campagna F , Montali A , Barilla F , Mangieri E , Tanzilli G , Seccareccia F , Campa PP , Ricci G , Pannitteri G |
| Ref : Clin Genet , 58 :369 , 2000 |
| Abstract : |
| PubMedSearch : Arca_2000_Clin.Genet_58_369 |
| PubMedID: 11140837 |
| Title : Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride\/low HDL-cholesterol levels - Razzaghi_2000_Hum.Genet_107_257 |
| Author(s) : Razzaghi H , Aston CE , Hamman RF , Kamboh MI |
| Ref : Hum Genet , 107 :257 , 2000 |
| Abstract : |
| PubMedSearch : Razzaghi_2000_Hum.Genet_107_257 |
| PubMedID: 11071388 |
| Title : Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins - Henderson_1999_J.Lipid.Res_40_735 |
| Author(s) : Henderson HE , Kastelein JJ , Zwinderman AH , Gagne E , Jukema JW , Reymer PW , Groenemeyer BE , Lie KI , Bruschke AV , Hayden MR , Jansen H |
| Ref : J Lipid Res , 40 :735 , 1999 |
| Abstract : |
| PubMedSearch : Henderson_1999_J.Lipid.Res_40_735 |
| PubMedID: 10191298 |
| Title : [The application of end user computing (EUC) for detection of lipoprotein lipase gene abnormality] - Li_1999_Rinsho.Byori_47_737 |
| Author(s) : Li J , Kobori K , Kondo A , Yonekawa O , Kanno T |
| Ref : Rinsho Byori , 47 :737 , 1999 |
| Abstract : |
| PubMedSearch : Li_1999_Rinsho.Byori_47_737 |
| PubMedID: 10511805 |
| Title : Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene - Hubel_1999_Clin.Genet_56_289 |
| Author(s) : Hubel CA , Roberts JM , Ferrell RE |
| Ref : Clin Genet , 56 :289 , 1999 |
| Abstract : |
| PubMedSearch : Hubel_1999_Clin.Genet_56_289 |
| PubMedID: 10636447 |
| Title : A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study - Gagne_1999_Clin.Genet_55_450 |
| Author(s) : Gagne SE , Larson MG , Pimstone SN , Schaefer EJ , Kastelein JJ , Wilson PW , Ordovas JM , Hayden MR |
| Ref : Clin Genet , 55 :450 , 1999 |
| Abstract : |
| PubMedSearch : Gagne_1999_Clin.Genet_55_450 |
| PubMedID: 10450862 |
| Title : DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene - Nickerson_1998_Nat.Genet_19_233 |
| Author(s) : Nickerson DA , Taylor SL , Weiss KM , Clark AG , Hutchinson RG , Stengard J , Salomaa V , Vartiainen E , Boerwinkle E , Sing CF |
| Ref : Nat Genet , 19 :233 , 1998 |
| Abstract : |
| PubMedSearch : Nickerson_1998_Nat.Genet_19_233 |
| PubMedID: 9662394 |
| Gene_locus related to this paper: human-LPL |
| Title : The Ser447-Ter mutation of the lipoprotein lipase gene relates to variability of serum lipid and lipoprotein levels in monozygotic twins - Thorn_1998_J.Lipid.Res_39_437 |
| Author(s) : Thorn JA , Needham EW , Mattu RK , Stocks J , Galton DJ |
| Ref : J Lipid Res , 39 :437 , 1998 |
| Abstract : |
| PubMedSearch : Thorn_1998_J.Lipid.Res_39_437 |
| PubMedID: 9508003 |
| Title : Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects - Zhang_1998_Mol.Genet.Metab_64_177 |
| Author(s) : Zhang Q , Liu Y , Liu BW , Fan P , Cavanna J , Galton DJ |
| Ref : Mol Genet Metab , 64 :177 , 1998 |
| Abstract : |
| PubMedSearch : Zhang_1998_Mol.Genet.Metab_64_177 |
| PubMedID: 9719626 |
| Title : Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS) - Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526 |
| Author(s) : Humphries SE , Nicaud V , Margalef J , Tiret L , Talmud PJ |
| Ref : Arterioscler Thromb Vasc Biol , 18 :526 , 1998 |
| Abstract : |
| PubMedSearch : Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526 |
| PubMedID: 9555857 |
| Title : Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis - Fisher_1997_Atherosclerosis_135_145 |
| Author(s) : Fisher RM , Humphries SE , Talmud PJ |
| Ref : Atherosclerosis , 135 :145 , 1997 |
| Abstract : |
| PubMedSearch : Fisher_1997_Atherosclerosis_135_145 |
| PubMedID: 9430364 |
| Title : Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies - Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| Author(s) : Hokanson JE |
| Ref : Int J Clin Lab Res , 27 :24 , 1997 |
| Abstract : |
| PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| PubMedID: 9144024 |
| Title : Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group - Groenemeijer_1997_Circulation_95_2628 |
| Author(s) : Groenemeijer BE , Hallman MD , Reymer PW , Gagne E , Kuivenhoven JA , Bruin T , Jansen H , Lie KI , Bruschke AV , Boerwinkle E , Hayden MR , Kastelein JJ |
| Ref : Circulation , 95 :2628 , 1997 |
| Abstract : |
| PubMedSearch : Groenemeijer_1997_Circulation_95_2628 |
| PubMedID: 9193431 |
| Title : Variation at the lipoprotein lipase and apolipoprotein AI-CIII gene loci are associated with fasting lipid and lipoprotein traits in a population sample from Iceland: interaction between genotype, gender, and smoking status - Peacock_1997_Genet.Epidemiol_14_265 |
| Author(s) : Peacock RE , Temple A , Gudnason V , Rosseneu M , Humphries SE |
| Ref : Genet Epidemiol , 14 :265 , 1997 |
| Abstract : |
| PubMedSearch : Peacock_1997_Genet.Epidemiol_14_265 |
| PubMedID: 9181356 |
| Title : Combined effects of lipoprotein lipase and apolipoprotein E polymorphisms on lipid and lipoprotein levels in the Stanislas cohort - Salah_1997_J.Lipid.Res_38_904 |
| Author(s) : Salah D , Bohnet K , Gueguen R , Siest G , Visvikis S |
| Ref : J Lipid Res , 38 :904 , 1997 |
| Abstract : |
| PubMedSearch : Salah_1997_J.Lipid.Res_38_904 |
| PubMedID: 9186908 |
| Title : Interaction of the lipoprotein lipase asparagine 291-->\;serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults - Fisher_1995_J.Lipid.Res_36_2104 |
| Author(s) : Fisher RM , Mailly F , Peacock RE , Hamsten A , Seed M , Yudkin JS , Beisiegel U , Feussner G , Miller G , Humphries SE , et al. |
| Ref : J Lipid Res , 36 :2104 , 1995 |
| Abstract : |
| PubMedSearch : Fisher_1995_J.Lipid.Res_36_2104 |
| PubMedID: 8576637 |
| Title : Polymorphisms of the lipoprotein lipase gene and premature atherosclerosis - Galton_1994_J.Intern.Med.Suppl_736_63 |
| Author(s) : Galton DJ , Mattu RK , Cavanna J |
| Ref : J Intern Med Suppl , 736 :63 , 1994 |
| Abstract : |
| PubMedSearch : Galton_1994_J.Intern.Med.Suppl_736_63 |
| PubMedID: 7986311 |
| Title : DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population - Mattu_1994_Arterioscler.Thromb_14_1090 |
| Author(s) : Mattu RK , Needham EW , Morgan R , Rees A , Hackshaw AK , Stocks J , Elwood PC , Galton DJ |
| Ref : Arterioscler Thromb , 14 :1090 , 1994 |
| Abstract : |
| PubMedSearch : Mattu_1994_Arterioscler.Thromb_14_1090 |
| PubMedID: 7912549 |
| Title : Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden - Peacock_1992_Atherosclerosis_97_171 |
| Author(s) : Peacock RE , Hamsten A , Nilsson-Ehle P , Humphries SE |
| Ref : Atherosclerosis , 97 :171 , 1992 |
| Abstract : |
| PubMedSearch : Peacock_1992_Atherosclerosis_97_171 |
| PubMedID: 1466662 |
| Title : Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion - Stocks_1992_J.Lipid.Res_33_853 |
| Author(s) : Stocks J , Thorn JA , Galton DJ |
| Ref : J Lipid Res , 33 :853 , 1992 |
| Abstract : |
| PubMedSearch : Stocks_1992_J.Lipid.Res_33_853 |
| PubMedID: 1355102 |
| Title : A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia - Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70 |
| Author(s) : Kobayashi J , Nishida T , Ameis D , Stahnke G , Schotz MC , Hashimoto H , Fukamachi I , Shirai K , Saito Y , Yoshida S |
| Ref : Biochemical & Biophysical Research Communications , 182 :70 , 1992 |
| Abstract : |
| PubMedSearch : Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70 |
| PubMedID: 1731801 |
| Title : Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family - Faustinella_1991_J.Biol.Chem_266_14418 |
| Author(s) : Faustinella F , Chang A , Van Biervliet JP , Rosseneu M , Vinaimont N , Smith LC , Chen SH , Chan L |
| Ref : Journal of Biological Chemistry , 266 :14418 , 1991 |
| Abstract : |
| PubMedSearch : Faustinella_1991_J.Biol.Chem_266_14418 |
| PubMedID: 1907278 |
| Gene_locus related to this paper: human-LPL |
| Title : Lipoprotein lipase with a defect in lipid interface recognition in a case with type I hyperlipidaemia - Kobayashi_1989_Eur.J.Clin.Invest_19_424 |
| Author(s) : Kobayashi J , Shirai K , Saito Y , Yoshida S |
| Ref : European Journal of Clinical Investigation , 19 :424 , 1989 |
| Abstract : |
| PubMedSearch : Kobayashi_1989_Eur.J.Clin.Invest_19_424 |
| PubMedID: 2511018 |
| Gene_locus related to this paper: human-LPL |