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| 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 : 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 : Holleboom_2011_Atherosclerosis_216_161 |
| ESTHER : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedSearch : Holleboom_2011_Atherosclerosis_216_161 |
| PubMedID: 21315357 |
| Gene_locus related to this paper: human-LCAT |
| 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 : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| ESTHER : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| PubMedSearch : Beigneux_2009_Arterioscler.Thromb.Vasc.Biol_29_956 |
| PubMedID: 19304573 |
| 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 : van Acker_2008_Atherosclerosis_200_161 |
| ESTHER : van Acker_2008_Atherosclerosis_200_161 |
| PubMedSearch : van Acker_2008_Atherosclerosis_200_161 |
| PubMedID: 18164013 |
| 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 : Dorfmeister_2008_Arterioscler.Thromb.Vasc.Biol_28_1866 |
| ESTHER : Dorfmeister_2008_Arterioscler.Thromb.Vasc.Biol_28_1866 |
| PubMedSearch : Dorfmeister_2008_Arterioscler.Thromb.Vasc.Biol_28_1866 |
| PubMedID: 18635818 |
| 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 : Rip_2007_Atherosclerosis_194_55 |
| ESTHER : Rip_2007_Atherosclerosis_194_55 |
| PubMedSearch : Rip_2007_Atherosclerosis_194_55 |
| PubMedID: 17087965 |
| 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 : Ross_2006_Hum.Gene.Ther_17_487 |
| ESTHER : Ross_2006_Hum.Gene.Ther_17_487 |
| PubMedSearch : Ross_2006_Hum.Gene.Ther_17_487 |
| PubMedID: 16716106 |
| 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 : Boekholdt_2006_Clin.Genet_69_263 |
| ESTHER : Boekholdt_2006_Clin.Genet_69_263 |
| 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 : 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 : 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 : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_637 |
| ESTHER : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_637 |
| PubMedSearch : Rip_2006_Arterioscler.Thromb.Vasc.Biol_26_637 |
| PubMedID: 16373616 |
| 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 : Rip_2005_Hum.Gene.Ther_16_1276 |
| ESTHER : Rip_2005_Hum.Gene.Ther_16_1276 |
| PubMedSearch : Rip_2005_Hum.Gene.Ther_16_1276 |
| PubMedID: 16259561 |
| 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 : Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| ESTHER : Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| PubMedSearch : Ross_2005_Arterioscler.Thromb.Vasc.Biol_25_2143 |
| PubMedID: 16002740 |
| 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 : Nierman_2005_Neth.J.Med_63_14 |
| ESTHER : Nierman_2005_Neth.J.Med_63_14 |
| PubMedSearch : Nierman_2005_Neth.J.Med_63_14 |
| PubMedID: 15719847 |
| 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 : Nierman_2005_Arterioscler.Thromb.Vasc.Biol_25_2410 |
| ESTHER : Nierman_2005_Arterioscler.Thromb.Vasc.Biol_25_2410 |
| 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 : Nierman_2005_Metabolism_54_1499 |
| ESTHER : Nierman_2005_Metabolism_54_1499 |
| PubMedSearch : Nierman_2005_Metabolism_54_1499 |
| PubMedID: 16253639 |
| 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 : Boer_1999_Clin.Genet_56_158 |
| ESTHER : Boer_1999_Clin.Genet_56_158 |
| PubMedSearch : Boer_1999_Clin.Genet_56_158 |
| PubMedID: 10517255 |
| Gene_locus related to this paper: human-LPL |
| 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 : 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 : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| ESTHER : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedSearch : Kuivenhoven_1996_J.Clin.Invest_98_358 |
| PubMedID: 8755645 |
| 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 : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| ESTHER : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| PubMedSearch : Kuivenhoven_1996_Arterioscler.Thromb.Vasc.Biol_16_294 |
| PubMedID: 8620346 |
| 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 : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| ESTHER : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedSearch : Kuivenhoven_1995_J.Clin.Invest_96_2783 |
| PubMedID: 8675648 |
| 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 : Kastelein_1992_J.Intern.Med_231_413 |
| ESTHER : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedID: 1588268 |