S474X_human-LPL

General

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.

References (63)

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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
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Abstract : Mehta_2023_Hum.Gene.Ther__
ESTHER : Mehta_2023_Hum.Gene.Ther__
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
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Abstract : Shestopalov_2023_J.Obes_2023_7392513
ESTHER : Shestopalov_2023_J.Obes_2023_7392513
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 : Sun_2019_Minerva.Cardioangiol_67_246
ESTHER : Sun_2019_Minerva.Cardioangiol_67_246
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 : Hayne_2017_Biochemistry_56_525
ESTHER : Hayne_2017_Biochemistry_56_525
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 : Ren_2016_Neurosci.Lett_619_73
ESTHER : Ren_2016_Neurosci.Lett_619_73
PubMedSearch : Ren_2016_Neurosci.Lett_619_73
PubMedID: 26975783

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 : Emamian_2015_Gene_558_195
ESTHER : Emamian_2015_Gene_558_195
PubMedSearch : Emamian_2015_Gene_558_195
PubMedID: 25579610

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 : Ahmadi_2015_J.Cardiovasc.Thorac.Res_7_63
ESTHER : Ahmadi_2015_J.Cardiovasc.Thorac.Res_7_63
PubMedSearch : Ahmadi_2015_J.Cardiovasc.Thorac.Res_7_63
PubMedID: 26191394

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 : Daoud_2013_Biomed.Rep_1_573
ESTHER : Daoud_2013_Biomed.Rep_1_573
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 : Ranganathan_2012_Atherosclerosis_221_143
ESTHER : Ranganathan_2012_Atherosclerosis_221_143
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 : Surendran_2012_J.Intern.Med_272_185
ESTHER : Surendran_2012_J.Intern.Med_272_185
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 : Niu_2011_J.Hum.Hypertens_25_383
ESTHER : Niu_2011_J.Hum.Hypertens_25_383
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 : Araujo_2010_Genet.Mol.Res_9_89
ESTHER : Araujo_2010_Genet.Mol.Res_9_89
PubMedSearch : Araujo_2010_Genet.Mol.Res_9_89
PubMedID: 20108206

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 : Salah_2009_J.Crit.Care_24_e11
ESTHER : Salah_2009_J.Crit.Care_24_e11
PubMedSearch : Salah_2009_J.Crit.Care_24_e11
PubMedID: 19664517

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 : Burnett_2009_Curr.Opin.Mol.Ther_11_681
ESTHER : Burnett_2009_Curr.Opin.Mol.Ther_11_681
PubMedSearch : Burnett_2009_Curr.Opin.Mol.Ther_11_681
PubMedID: 20072945

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 : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236
ESTHER : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236
PubMedSearch : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_1236
PubMedID: 16574898

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 : Kokubo_2006_Hypertens.Res_29_611
ESTHER : Kokubo_2006_Hypertens.Res_29_611
PubMedSearch : Kokubo_2006_Hypertens.Res_29_611
PubMedID: 17137217
Gene_locus related to this paper: human-LIPC

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 : Arai_2005_J.Atheroscler.Thromb_12_240
ESTHER : Arai_2005_J.Atheroscler.Thromb_12_240
PubMedSearch : Arai_2005_J.Atheroscler.Thromb_12_240
PubMedID: 16205020

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 : Nierman_2005_Metabolism_54_1499
ESTHER : Nierman_2005_Metabolism_54_1499
PubMedSearch : Nierman_2005_Metabolism_54_1499
PubMedID: 16253639

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 : Lopez-Miranda_2004_J.Clin.Endocrinol.Metab_89_4721
ESTHER : Lopez-Miranda_2004_J.Clin.Endocrinol.Metab_89_4721
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 : Xin_2003_Metabolism_52_1337
ESTHER : Xin_2003_Metabolism_52_1337
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 : Skoglund-Andersson_2003_Atherosclerosis_167_311
ESTHER : Skoglund-Andersson_2003_Atherosclerosis_167_311
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 : Morabia_2003_Genet.Epidemiol_24_309
ESTHER : Morabia_2003_Genet.Epidemiol_24_309
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 : Ferencak_2003_Clin.Chem.Lab.Med_41_541
ESTHER : Ferencak_2003_Clin.Chem.Lab.Med_41_541
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 : Corella_2002_J.Lipid.Res_43_416
ESTHER : Corella_2002_J.Lipid.Res_43_416
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 : Ukkola_2002_J.Intern.Med_251_429
ESTHER : Ukkola_2002_J.Intern.Med_251_429
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 : Campagna_2002_Metabolism_51_1298
ESTHER : Campagna_2002_Metabolism_51_1298
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 : Talmud_2002_Ann.Hum.Genet_66_111
ESTHER : Talmud_2002_Ann.Hum.Genet_66_111
PubMedSearch : Talmud_2002_Ann.Hum.Genet_66_111
PubMedID: 12174215

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 : Ukkola_2001_Atherosclerosis_158_199
ESTHER : Ukkola_2001_Atherosclerosis_158_199
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 : van Bockxmeer_2001_Atherosclerosis_157_123
ESTHER : van Bockxmeer_2001_Atherosclerosis_157_123
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 : Myllykangas_2001_Ann.Med_33_486
ESTHER : Myllykangas_2001_Ann.Med_33_486
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 : Hubacek_2001_Physiol.Res_50_345
ESTHER : Hubacek_2001_Physiol.Res_50_345
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 : Hallman_2001_Metabolism_50_894
ESTHER : Hallman_2001_Metabolism_50_894
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 : McGladdery_2001_J.Lipid.Res_42_1905
ESTHER : McGladdery_2001_J.Lipid.Res_42_1905
PubMedSearch : McGladdery_2001_J.Lipid.Res_42_1905
PubMedID: 11714860

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 : Garenc_2001_J.Appl.Physiol_91_1334
ESTHER : Garenc_2001_J.Appl.Physiol_91_1334
PubMedSearch : Garenc_2001_J.Appl.Physiol_91_1334
PubMedID: 11509533

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 : Clee_2001_Clin.Genet_60_293
ESTHER : Clee_2001_Clin.Genet_60_293
PubMedSearch : Clee_2001_Clin.Genet_60_293
PubMedID: 11683775
Gene_locus related to this paper: human-LPL

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 : Chen_2001_Atherosclerosis_159_367
ESTHER : Chen_2001_Atherosclerosis_159_367
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 : Shimo-Nakanishi_2001_Stroke_32_1481
ESTHER : Shimo-Nakanishi_2001_Stroke_32_1481
PubMedSearch : Shimo-Nakanishi_2001_Stroke_32_1481
PubMedID: 11441189

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 : Hall_2000_Genet.Epidemiol_18_203
ESTHER : Hall_2000_Genet.Epidemiol_18_203
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 : Arca_2000_Clin.Genet_58_369
ESTHER : Arca_2000_Clin.Genet_58_369
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 : Razzaghi_2000_Hum.Genet_107_257
ESTHER : Razzaghi_2000_Hum.Genet_107_257
PubMedSearch : Razzaghi_2000_Hum.Genet_107_257
PubMedID: 11071388

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 : Garenc_2000_Metabolism_49_432
ESTHER : Garenc_2000_Metabolism_49_432
PubMedSearch : Garenc_2000_Metabolism_49_432
PubMedID: 10778864

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 : Li_1999_Rinsho.Byori_47_737
ESTHER : Li_1999_Rinsho.Byori_47_737
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 : Hubel_1999_Clin.Genet_56_289
ESTHER : Hubel_1999_Clin.Genet_56_289
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 : Gagne_1999_Clin.Genet_55_450
ESTHER : Gagne_1999_Clin.Genet_55_450
PubMedSearch : Gagne_1999_Clin.Genet_55_450
PubMedID: 10450862

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 : Henderson_1999_J.Lipid.Res_40_735
ESTHER : Henderson_1999_J.Lipid.Res_40_735
PubMedSearch : Henderson_1999_J.Lipid.Res_40_735
PubMedID: 10191298

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 : Thorn_1998_J.Lipid.Res_39_437
ESTHER : Thorn_1998_J.Lipid.Res_39_437
PubMedSearch : Thorn_1998_J.Lipid.Res_39_437
PubMedID: 9508003

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 : Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526
ESTHER : Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526
PubMedSearch : Humphries_1998_Arterioscler.Thromb.Vasc.Biol_18_526
PubMedID: 9555857

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 : Zhang_1998_Mol.Genet.Metab_64_177
ESTHER : Zhang_1998_Mol.Genet.Metab_64_177
PubMedSearch : Zhang_1998_Mol.Genet.Metab_64_177
PubMedID: 9719626

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 : Nickerson_1998_Nat.Genet_19_233
ESTHER : Nickerson_1998_Nat.Genet_19_233
PubMedSearch : Nickerson_1998_Nat.Genet_19_233
PubMedID: 9662394
Gene_locus related to this paper: human-LPL

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 : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
ESTHER : Hokanson_1997_Int.J.Clin.Lab.Res_27_24
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 : Groenemeijer_1997_Circulation_95_2628
ESTHER : Groenemeijer_1997_Circulation_95_2628
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 : Peacock_1997_Genet.Epidemiol_14_265
ESTHER : Peacock_1997_Genet.Epidemiol_14_265
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 : Salah_1997_J.Lipid.Res_38_904
ESTHER : Salah_1997_J.Lipid.Res_38_904
PubMedSearch : Salah_1997_J.Lipid.Res_38_904
PubMedID: 9186908

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 : Fisher_1997_Atherosclerosis_135_145
ESTHER : Fisher_1997_Atherosclerosis_135_145
PubMedSearch : Fisher_1997_Atherosclerosis_135_145
PubMedID: 9430364

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 : Fisher_1995_J.Lipid.Res_36_2104
ESTHER : Fisher_1995_J.Lipid.Res_36_2104
PubMedSearch : Fisher_1995_J.Lipid.Res_36_2104
PubMedID: 8576637

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 : Mattu_1994_Arterioscler.Thromb_14_1090
ESTHER : Mattu_1994_Arterioscler.Thromb_14_1090
PubMedSearch : Mattu_1994_Arterioscler.Thromb_14_1090
PubMedID: 7912549

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 : Galton_1994_J.Intern.Med.Suppl_736_63
ESTHER : Galton_1994_J.Intern.Med.Suppl_736_63
PubMedSearch : Galton_1994_J.Intern.Med.Suppl_736_63
PubMedID: 7986311

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 : Peacock_1992_Atherosclerosis_97_171
ESTHER : Peacock_1992_Atherosclerosis_97_171
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 : Stocks_1992_J.Lipid.Res_33_853
ESTHER : Stocks_1992_J.Lipid.Res_33_853
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 : Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70
ESTHER : Kobayashi_1992_Biochem.Biophys.Res.Commun_182_70
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 : Faustinella_1991_J.Biol.Chem_266_14418
ESTHER : Faustinella_1991_J.Biol.Chem_266_14418
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 : Kobayashi_1989_Eur.J.Clin.Invest_19_424
ESTHER : Kobayashi_1989_Eur.J.Clin.Invest_19_424
PubMedSearch : Kobayashi_1989_Eur.J.Clin.Invest_19_424
PubMedID: 2511018
Gene_locus related to this paper: human-LPL