| 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 : 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 : A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry - Foubert_1997_Hum.Mutat_10_179 |
| Author(s) : Foubert L , Bruin T , De Gennes JL , Ehrenborg E , Furioli J , Kastelein J , Benlian P , Hayden M |
| Ref : Hum Mutat , 10 :179 , 1997 |
| Abstract : |
| PubMedSearch : Foubert_1997_Hum.Mutat_10_179 |
| PubMedID: 9298816 |
| Gene_locus related to this paper: human-LPL |
| 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 : 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 : 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 : A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia - Reymer_1995_Hum.Mol.Genet_4_1543 |
| Author(s) : Reymer PW , Groenemeyer BE , Gagne E , Miao L , Appelman EE , Seidel JC , Kromhout D , Bijvoet SM , van de Oever K , Bruin T , et al. |
| Ref : Hum Mol Genet , 4 :1543 , 1995 |
| Abstract : |
| PubMedSearch : Reymer_1995_Hum.Mol.Genet_4_1543 |
| PubMedID: 8541837 |
| Title : A common variant in the gene for lipoprotein lipase (Asp9-->\;Asn). Functional implications and prevalence in normal and hyperlipidemic subjects - Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468 |
| Author(s) : Mailly F , Tugrul Y , Reymer PW , Bruin T , Seed M , Groenemeyer BF , Asplund-Carlson A , Vallance D , Winder AF , Miller GJ , et al. |
| Ref : Arterioscler Thromb Vasc Biol , 15 :468 , 1995 |
| Abstract : |
| PubMedSearch : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468 |
| PubMedID: 7749858 |
| Title : Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries - Ma_1994_Hum.Mutat_3_52 |
| Author(s) : Ma Y , Liu MS , Chitayat D , Bruin T , Beisiegel U , Benlian P , Foubert L , De Gennes JL , Funke H , Forsythe I , Blaichman S , Papanikolaou M , Erkelens DW , Kastelein J , Brunzell JD , Hayden MR |
| Ref : Hum Mutat , 3 :52 , 1994 |
| Abstract : |
| PubMedSearch : Ma_1994_Hum.Mutat_3_52 |
| PubMedID: 7906986 |
| 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 : 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 : 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 : 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 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 : 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 |