| Title : The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans - Singaraja_2013_Circ.Cardiovasc.Genet_6_54 |
| Author(s) : Singaraja RR , Sivapalaratnam S , Hovingh K , Dube MP , Castro-Perez J , Collins HL , Adelman SJ , Riwanto M , Manz J , Hubbard B , Tietjen I , Wong K , Mitnaul LJ , van Heek M , Lin L , Roddy TA , McEwen J , Dallinge-Thie G , van Vark-van der Zee L , Verwoert G , Winther M , van Duijn C , Hofman A , Trip MD , Marais AD , Asztalos B , Landmesser U , Sijbrands E , Kastelein JJ , Hayden MR |
| Ref : Circ Cardiovasc Genet , 6 :54 , 2013 |
| Abstract : |
| PubMedSearch : Singaraja_2013_Circ.Cardiovasc.Genet_6_54 |
| PubMedID: 23243195 |
| Title : Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia - Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| Author(s) : Stitziel NO , Fouchier SW , Sjouke B , Peloso GM , Moscoso AM , Auer PL , Goel A , Gigante B , Barnes TA , Melander O , Orho-Melander M , Duga S , Sivapalaratnam S , Nikpay M , Martinelli N , Girelli D , Jackson RD , Kooperberg C , Lange LA , Ardissino D , McPherson R , Farrall M , Watkins H , Reilly MP , Rader DJ , de Faire U , Schunkert H , Erdmann J , Samani NJ , Charnas L , Altshuler D , Gabriel S , Kastelein JJ , Defesche JC , Nederveen AJ , Kathiresan S , Hovingh GK |
| Ref : Arterioscler Thromb Vasc Biol , 33 :2909 , 2013 |
| Abstract : |
| PubMedSearch : Stitziel_2013_Arterioscler.Thromb.Vasc.Biol_33_2909 |
| PubMedID: 24072694 |
| Title : Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol - Tietjen_2012_PLoS.One_7_e37437 |
| Author(s) : Tietjen I , Hovingh GK , Singaraja RR , Radomski C , Barhdadi A , McEwen J , Chan E , Mattice M , Legendre A , Franchini PL , Dube MP , Kastelein JJ , Hayden MR |
| Ref : PLoS ONE , 7 :e37437 , 2012 |
| Abstract : |
| PubMedSearch : Tietjen_2012_PLoS.One_7_e37437 |
| PubMedID: 22952570 |
| 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 : Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase - Holleboom_2011_Atherosclerosis_216_161 |
| Author(s) : Holleboom AG , Kuivenhoven JA , van Olden CC , Peter J , Schimmel AW , Levels JH , Valentijn RM , Vos P , Defesche JC , Kastelein JJ , Hovingh GK , Stroes ES , Hollak CE |
| Ref : Atherosclerosis , 216 :161 , 2011 |
| Abstract : |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| Title : Lack of association between common genetic variation in endothelial lipase (LIPG) and the risk for CAD and DVT - Vergeer_2010_Atherosclerosis_211_558 |
| Author(s) : Vergeer M , Cohn DM , Boekholdt SM , Sandhu MS , Prins HM , Ricketts SL , Wareham NJ , Kastelein JJ , Khaw KT , Kamphuisen PW , Dallinga-Thie GM |
| Ref : Atherosclerosis , 211 :558 , 2010 |
| Abstract : |
| PubMedSearch : Vergeer_2010_Atherosclerosis_211_558 |
| PubMedID: 20466371 |
| Gene_locus related to this paper: human-LIPG |
| Title : The expression of type III hyperlipoproteinemia: involvement of lipolysis genes - Henneman_2009_Eur.J.Hum.Genet_17_620 |
| Author(s) : Henneman P , van der Sman-de Beer F , Moghaddam PH , Huijts P , Stalenhoef AF , Kastelein JJ , van Duijn CM , Havekes LM , Frants RR , van Dijk KW , Smelt AH |
| Ref : Eur J Hum Genet , 17 :620 , 2009 |
| Abstract : |
| PubMedSearch : Henneman_2009_Eur.J.Hum.Genet_17_620 |
| PubMedID: 19034316 |
| Title : Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase - Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| Author(s) : Beigneux AP , Franssen R , Bensadoun A , Gin P , Melford K , Peter J , Walzem RL , Weinstein MM , Davies BS , Kuivenhoven JA , Kastelein JJ , Fong LG , Dallinga-Thie GM , Young SG |
| Ref : Arterioscler Thromb Vasc Biol , 29 :956 , 2009 |
| Abstract : |
| PubMedSearch : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| PubMedID: 19304573 |
| Title : Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding - Dorfmeister_2008_Arterioscler.Thromb.Vasc.Biol_28_1866 |
| Author(s) : Dorfmeister B , Zeng WW , Dichlberger A , Nilsson SK , Schaap FG , Hubacek JA , Merkel M , Cooper JA , Lookene A , Putt W , Whittall R , Lee PJ , Lins L , Delsaux N , Nierman M , Kuivenhoven JA , Kastelein JJ , Vrablik M , Olivecrona G , Schneider WJ , Heeren J , Humphries SE , Talmud PJ |
| Ref : Arterioscler Thromb Vasc Biol , 28 :1866 , 2008 |
| Abstract : |
| PubMedSearch : Dorfmeister_2008_Arterioscler.Thromb.Vasc.Biol_28_1866 |
| PubMedID: 18635818 |
| Title : Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis - Sagoo_2008_Am.J.Epidemiol_168_1233 |
| Author(s) : Sagoo GS , Tatt I , Salanti G , Butterworth AS , Sarwar N , van Maarle M , Jukema JW , Wiman B , Kastelein JJ , Bennet AM , de Faire U , Danesh J , Higgins JP |
| Ref : Am J Epidemiol , 168 :1233 , 2008 |
| Abstract : |
| PubMedSearch : Sagoo_2008_Am.J.Epidemiol_168_1233 |
| PubMedID: 18922999 |
| Title : High HDL cholesterol does not protect against coronary artery disease when associated with combined cholesteryl ester transfer protein and hepatic lipase gene variants - van Acker_2008_Atherosclerosis_200_161 |
| Author(s) : van Acker BA , Botma GJ , Zwinderman AH , Kuivenhoven JA , Dallinga-Thie GM , Sijbrands EJ , Boer JM , Seidell JC , Jukema JW , Kastelein JJ , Jansen H , Verhoeven AJ |
| Ref : Atherosclerosis , 200 :161 , 2008 |
| Abstract : |
| PubMedSearch : van Acker_2008_Atherosclerosis_200_161 |
| PubMedID: 18164013 |
| Title : Adeno-associated virus LPL(S447X) gene therapy in LDL receptor knockout mice - Rip_2007_Atherosclerosis_194_55 |
| Author(s) : Rip J , Sierts JA , Vaessen SF , Kastelein JJ , Twisk J , Kuivenhoven JA |
| Ref : Atherosclerosis , 194 :55 , 2007 |
| Abstract : |
| PubMedSearch : Rip_2007_Atherosclerosis_194_55 |
| PubMedID: 17087965 |
| Title : Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels - Boekholdt_2006_Clin.Genet_69_263 |
| Author(s) : Boekholdt SM , Souverein OW , Tanck MW , Hovingh GK , Kuivenhoven JA , Peters RI , Jansen H , Schiffers PM , van der Wall EE , Doevendans PA , Reitsma PH , Zwinderman AH , Kastelein JJ , Jukema JW |
| Ref : Clin Genet , 69 :263 , 2006 |
| Abstract : |
| PubMedSearch : Boekholdt_2006_Clin.Genet_69_263 |
| PubMedID: 16542392 |
| 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 : Serum lipoprotein lipase concentration and risk for future coronary artery disease: the EPIC-Norfolk prospective population study - Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_637 |
| Author(s) : Rip J , Nierman MC , Wareham NJ , Luben R , Bingham SA , Day NE , van Miert JN , Hutten BA , Kastelein JJ , Kuivenhoven JA , Khaw KT , Boekholdt SM |
| Ref : Arterioscler Thromb Vasc Biol , 26 :637 , 2006 |
| Abstract : |
| PubMedSearch : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_637 |
| PubMedID: 16373616 |
| Title : Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation - Ross_2006_Hum.Gene.Ther_17_487 |
| Author(s) : Ross CJ , Twisk J , Bakker AC , Miao F , Verbart D , Rip J , Godbey T , Dijkhuizen P , Hermens WT , Kastelein JJ , Kuivenhoven JA , Meulenberg JM , Hayden MR |
| Ref : Hum Gene Therapy , 17 :487 , 2006 |
| Abstract : |
| PubMedSearch : Ross_2006_Hum.Gene.Ther_17_487 |
| PubMedID: 16716106 |
| Title : Gene therapy for lipoprotein lipase deficiency: working toward clinical application - Rip_2005_Hum.Gene.Ther_16_1276 |
| Author(s) : Rip J , Nierman MC , Sierts JA , Petersen W , Van den Oever K , Van Raalte D , Ross CJ , Hayden MR , Bakker AC , Dijkhuizen P , Hermens WT , Twisk J , Stroes E , Kastelein JJ , Kuivenhoven JA , Meulenberg JM |
| Ref : Hum Gene Therapy , 16 :1276 , 2005 |
| Abstract : |
| PubMedSearch : Rip_2005_Hum.Gene.Ther_16_1276 |
| PubMedID: 16259561 |
| Title : Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice - Nierman_2005_Neth.J.Med_63_14 |
| Author(s) : Nierman MC , Rip J , Twisk J , Meulenberg JJ , Kastelein JJ , Stroes ES , Kuivenhoven JA |
| Ref : Neth J Med , 63 :14 , 2005 |
| Abstract : |
| PubMedSearch : Nierman_2005_Neth.J.Med_63_14 |
| PubMedID: 15719847 |
| Title : Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation - Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| Author(s) : Ross CJ , Liu G , Kuivenhoven JA , Twisk J , Rip J , van Dop W , Excoffon KJ , Lewis SM , Kastelein JJ , Hayden MR |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2143 , 2005 |
| Abstract : |
| PubMedSearch : Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| PubMedID: 16002740 |
| Title : Indications that paraoxonase-1 contributes to plasma high density lipoprotein levels in familial hypercholesterolemia - van Himbergen_2005_J.Lipid.Res_46_445 |
| Author(s) : van Himbergen TM , Roest M , de Graaf J , Jansen EH , Hattori H , Kastelein JJ , Voorbij HA , Stalenhoef AF , van Tits LJ |
| Ref : J Lipid Res , 46 :445 , 2005 |
| Abstract : |
| PubMedSearch : van Himbergen_2005_J.Lipid.Res_46_445 |
| PubMedID: 15576850 |
| Title : Enhanced conversion of triglyceride-rich lipoproteins and increased low-density lipoprotein removal in LPLS447X carriers - Nierman_2005_Arterioscler.Thromb.Vasc.Biol_25_2410 |
| Author(s) : Nierman MC , Prinsen BH , Rip J , Veldman RJ , Kuivenhoven JA , Kastelein JJ , de Sain-van der Velden MG , Stroes ES |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2410 , 2005 |
| Abstract : |
| PubMedSearch : Nierman_2005_Arterioscler.Thromb.Vasc.Biol_25_2410 |
| PubMedID: 16195478 |
| 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 : 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 : The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia - Hoffer_2000_Atherosclerosis_151_443 |
| Author(s) : Hoffer MJ , Snieder H , Bredie SJ , Demacker PN , Kastelein JJ , Frants RR , Stalenhoef AF |
| Ref : Atherosclerosis , 151 :443 , 2000 |
| Abstract : |
| PubMedSearch : Hoffer_2000_Atherosclerosis_151_443 |
| PubMedID: 10924721 |
| Gene_locus related to this paper: human-LIPC |
| Title : Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis - Clee_2000_J.Lipid.Res_41_521 |
| Author(s) : Clee SM , Bissada N , Miao F , Miao L , Marais AD , Henderson HE , Steures P , McManus J , McManus B , LeBoeuf RC , Kastelein JJ , Hayden MR |
| Ref : J Lipid Res , 41 :521 , 2000 |
| Abstract : |
| PubMedSearch : Clee_2000_J.Lipid.Res_41_521 |
| PubMedID: 10744772 |
| Title : Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci - Hallman_1999_Ann.Hum.Genet_63_499 |
| Author(s) : Hallman DM , Groenemeijer BE , Jukema JW , Boerwinkle E , Kastelein JJ |
| Ref : Ann Hum Genet , 63 :499 , 1999 |
| Abstract : |
| PubMedSearch : Hallman_1999_Ann.Hum.Genet_63_499 |
| PubMedID: 11246452 |
| 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 : Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins - Boer_1999_Clin.Genet_56_158 |
| Author(s) : Boer JM , Kuivenhoven JA , Feskens EJ , Schouten EG , Havekes LM , Seidell JC , Kastelein JJ , Kromhout D |
| Ref : Clin Genet , 56 :158 , 1999 |
| Abstract : |
| PubMedSearch : Boer_1999_Clin.Genet_56_158 |
| PubMedID: 10517255 |
| Gene_locus related to this paper: human-LPL |
| 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 : Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women - Kastelein_1999_Clin.Genet_56_297 |
| Author(s) : Kastelein JJ , Ordovas JM , Wittekoek ME , Pimstone SN , Wilson WF , Gagne SE , Larson MG , Schaefer EJ , Boer JM , Gerdes C , Hayden MR |
| Ref : Clin Genet , 56 :297 , 1999 |
| Abstract : |
| PubMedSearch : Kastelein_1999_Clin.Genet_56_297 |
| PubMedID: 10636448 |
| Title : Gender-related association between the -93T-->\;G\/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia - Hoffer_1998_Atherosclerosis_138_91 |
| Author(s) : Hoffer MJ , Bredie SJ , Snieder H , Reymer PW , Demacker PN , Havekes LM , Boomsma DI , Stalenhoef AF , Frants RR , Kastelein JJ |
| Ref : Atherosclerosis , 138 :91 , 1998 |
| Abstract : |
| PubMedSearch : Hoffer_1998_Atherosclerosis_138_91 |
| PubMedID: 9678774 |
| Title : The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group - Kastelein_1998_Clin.Genet_53_27 |
| Author(s) : Kastelein JJ , Groenemeyer BE , Hallman DM , Henderson H , Reymer PW , Gagne SE , Jansen H , Seidell JC , Kromhout D , Jukema JW , Bruschke AV , Boerwinkle E , Hayden MR |
| Ref : Clin Genet , 53 :27 , 1998 |
| Abstract : |
| PubMedSearch : Kastelein_1998_Clin.Genet_53_27 |
| PubMedID: 9550358 |
| Title : Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event - Henderson_1998_Am.J.Med.Genet_78_313 |
| Author(s) : Henderson HE , Bijvoet SM , Mannens MA , Bruin T , Erkelens DW , Hayden MR , Kastelein JJ |
| Ref : American Journal of Medicine Genet , 78 :313 , 1998 |
| Abstract : |
| PubMedSearch : Henderson_1998_Am.J.Med.Genet_78_313 |
| PubMedID: 9714430 |
| Title : Mutation of tryptophan residues in lipoprotein lipase. Effects on stability, immunoreactivity, and catalytic properties - Lookene_1997_J.Biol.Chem_272_766 |
| Author(s) : Lookene A , Groot NB , Kastelein JJ , Olivecrona G , Bruin T |
| Ref : Journal of Biological Chemistry , 272 :766 , 1997 |
| Abstract : |
| PubMedSearch : Lookene_1997_J.Biol.Chem_272_766 |
| PubMedID: 8995362 |
| 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 : Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients - Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| Author(s) : Jansen H , Verhoeven AJ , Weeks L , Kastelein JJ , Halley DJ , van den Ouweland A , Jukema JW , Seidell JC , Birkenhager JC |
| Ref : Arterioscler Thromb Vasc Biol , 17 :2837 , 1997 |
| Abstract : |
| PubMedSearch : Jansen_1997_Arterioscler.Thromb.Vasc.Biol_17_2837 |
| PubMedID: 9409263 |
| Title : Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->\;Asn\; Ser251-->\;Cys) resulting in lipoprotein lipase (LPL) deficiency - Bijvoet_1996_Neth.J.Med_49_189 |
| Author(s) : Bijvoet SM , Wiebusch H , Ma Y , Reymer PW , Bruin T , Bakker HD , Funke H , Assmann G , Hayden MR , Kastelein JJ |
| Ref : Neth J Med , 49 :189 , 1996 |
| Abstract : |
| PubMedSearch : Bijvoet_1996_Neth.J.Med_49_189 |
| PubMedID: 8973094 |
| Title : Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia - |
| Author(s) : Wiebusch H , Funke H , Bruin T , Bucher H , von Eckardstein A , Kastelein JJ , Assmann G |
| Ref : Hum Mutat , 8 :381 , 1996 |
| PubMedID: 8956048 |
| Gene_locus related to this paper: human-LPL |
| Title : Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency - Bijvoet_1996_J.Lipid.Res_37_640 |
| Author(s) : Bijvoet S , Gagne SE , Moorjani S , Gagne C , Henderson HE , Fruchart JC , Dallongeville J , Alaupovic P , Prins M , Kastelein JJ , Hayden MR |
| Ref : J Lipid Res , 37 :640 , 1996 |
| Abstract : |
| PubMedSearch : Bijvoet_1996_J.Lipid.Res_37_640 |
| PubMedID: 8728325 |
| Title : Two novel molecular defects in the LCAT gene are associated with fish eye disease - Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| Author(s) : Kuivenhoven JA , Stalenhoef AF , Hill JS , Demacker PN , Errami A , Kastelein JJ , Pritchard PH |
| Ref : Arterioscler Thromb Vasc Biol , 16 :294 , 1996 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| PubMedID: 8620346 |
| Title : An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease) - Kuivenhoven_1996_J.Clin.Invest_98_358 |
| Author(s) : Kuivenhoven JA , Weibusch H , Pritchard PH , Funke H , Benne R , Assmann G , Kastelein JJ |
| Ref : J Clinical Investigation , 98 :358 , 1996 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedID: 8755645 |
| Title : Patients with apoE3 deficiency (E2\/2, E3\/2, and E4\/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->\;Ser mutation in the human LPL gene - Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| Author(s) : Zhang H , Reymer PW , Liu MS , Forsythe IJ , Groenemeyer BE , Frohlich J , Brunzell JD , Kastelein JJ , Hayden MR , Ma Y |
| Ref : Arterioscler Thromb Vasc Biol , 15 :1695 , 1995 |
| Abstract : |
| PubMedSearch : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedID: 7583546 |
| Title : A unique genetic and biochemical presentation of fish-eye disease - Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| Author(s) : Kuivenhoven JA , van Voorst tot Voorst EJ , Wiebusch H , Marcovina SM , Funke H , Assmann G , Pritchard PH , Kastelein JJ |
| Ref : J Clinical Investigation , 96 :2783 , 1995 |
| Abstract : |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| Title : A compound heterozygote for lipoprotein lipase deficiency, Val69-->\;Leu and Gly188-->\;Glu: correlation between in vitro LPL activity and clinical expression - Bruin_1994_J.Lipid.Res_35_438 |
| Author(s) : Bruin T , Tuzgol S , Mulder WJ , van den Ende AE , Jansen H , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 35 :438 , 1994 |
| Abstract : |
| PubMedSearch : Bruin_1994_J.Lipid.Res_35_438 |
| PubMedID: 7912254 |
| Title : Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent - Bijvoet_1994_Hum.Genet_93_339 |
| Author(s) : Bijvoet SM , Bruin T , Tuzgol S , Bakker HD , Hayden MR , Kastelein JJ |
| Ref : Hum Genet , 93 :339 , 1994 |
| Abstract : |
| PubMedSearch : Bijvoet_1994_Hum.Genet_93_339 |
| PubMedID: 8125488 |
| Title : Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase - Bruin_1993_J.Lipid.Res_34_2109 |
| Author(s) : Bruin T , Tuzgol S , Van Diermen DE , Hoogerbrugge-van der Linden N , Brunzell JD , Hayden MR , Kastelein JJ |
| Ref : J Lipid Res , 34 :2109 , 1993 |
| Abstract : |
| PubMedSearch : Bruin_1993_J.Lipid.Res_34_2109 |
| PubMedID: 8301230 |
| Gene_locus related to this paper: human-LPL |
| Title : The familial hyperchylomicronaemia syndrome - Bijvoet_1993_Neth.J.Med_42_36 |
| Author(s) : Bijvoet SM , Bruin T , Kastelein JJ |
| Ref : Neth J Med , 42 :36 , 1993 |
| Abstract : |
| PubMedSearch : Bijvoet_1993_Neth.J.Med_42_36 |
| PubMedID: 8446222 |
| Title : Phenotypic variation of mutations in the human lipoprotein-lipase gene - Hayden_1993_Biochem.Soc.Trans_21_506 |
| Author(s) : Hayden MR , Kastelein JJ , Funke H , Brunzell JD , Ma Y |
| Ref : Biochemical Society Transactions , 21 :506 , 1993 |
| Abstract : |
| PubMedSearch : Hayden_1993_Biochem.Soc.Trans_21_506 |
| PubMedID: 8359520 |
| Title : Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region - Henderson_1993_J.Lipid.Res_34_1593 |
| Author(s) : Henderson HE , Ma Y , Liu MS , Clark-Lewis I , Maeder DL , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 34 :1593 , 1993 |
| Abstract : |
| PubMedSearch : Henderson_1993_J.Lipid.Res_34_1593 |
| PubMedID: 8228642 |
| Title : A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity - Bruin_1992_Eur.J.Biochem_208_267 |
| Author(s) : Bruin T , Kastelein JJ , Van Diermen DE , Ma Y , Henderson HE , Stuyt PM , Stalenhoef AF , Sturk A , Brunzell JD , Hayden MR |
| Ref : European Journal of Biochemistry , 208 :267 , 1992 |
| Abstract : |
| PubMedSearch : Bruin_1992_Eur.J.Biochem_208_267 |
| PubMedID: 1521525 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413 |
| Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ |
| Ref : J Intern Med , 231 :413 , 1992 |
| Abstract : |
| PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedID: 1588268 |
| Title : Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis - Ma_1992_J.Biol.Chem_267_1918 |
| Author(s) : Ma YH , Bruin T , Tuzgol S , Wilson BI , Roederer G , Liu MS , Davignon J , Kastelein JJ , Brunzell JD , Hayden MR |
| Ref : Journal of Biological Chemistry , 267 :1918 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_J.Biol.Chem_267_1918 |
| PubMedID: 1730727 |
| Gene_locus related to this paper: human-LPL |
| Title : A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries - Ma_1992_Genomics_13_649 |
| Author(s) : Ma Y , Wilson BI , Bijvoet S , Henderson HE , Cramb E , Roederer G , Ven Murthy MR , Julien P , Bakker HD , Kastelein JJ , Brunzel JD , Hayden MR |
| Ref : Genomics , 13 :649 , 1992 |
| Abstract : |
| PubMedSearch : Ma_1992_Genomics_13_649 |
| PubMedID: 1639392 |
| Gene_locus related to this paper: human-LPL |
| Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G |
| Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991 |
| Abstract : |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |
| Title : A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries - Monsalve_1990_J.Clin.Invest_86_728 |
| Author(s) : Monsalve MV , Henderson H , Roederer G , Julien P , Deeb S , Kastelein JJ , Peritz L , Devlin R , Bruin T , Murthy MR , et al. |
| Ref : J Clinical Investigation , 86 :728 , 1990 |
| Abstract : |
| PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728 |
| PubMedID: 1975597 |
| Gene_locus related to this paper: human-LPL |
| Title : A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency - Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| Author(s) : Langlois S , Deeb S , Brunzell JD , Kastelein JJ , Hayden MR |
| Ref : Proc Natl Acad Sci U S A , 86 :948 , 1989 |
| Abstract : |
| PubMedSearch : Langlois_1989_Proc.Natl.Acad.Sci.U.S.A_86_948 |
| PubMedID: 2536938 |
| Title : Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) - Langlois_1988_Am.J.Hum.Genet_43_60 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :60 , 1988 |
| Abstract : |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_60 |
| PubMedID: 2837085 |
| Title : A unique insertion accounts for a significant proportion of the mutations in the lipoprotein lipase (LPL) gene. (Abstract) - Langlois_1988_Am.J.Hum.Genet_43_A191 |
| Author(s) : Langlois S , Deeb S , Brunzell J , Kastelein JJ , Hayden MR |
| Ref : American Journal of Human Genetics , 43 :A191 , 1988 |
| Abstract : |
| PubMedSearch : Langlois_1988_Am.J.Hum.Genet_43_A191 |
| PubMedID: |