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References (16)

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 : Henderson_1998_Am.J.Med.Genet_78_313
ESTHER : Henderson_1998_Am.J.Med.Genet_78_313
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 : Lookene_1997_J.Biol.Chem_272_766
ESTHER : Lookene_1997_J.Biol.Chem_272_766
PubMedSearch : Lookene_1997_J.Biol.Chem_272_766
PubMedID: 8995362

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 : Foubert_1997_Hum.Mutat_10_179
ESTHER : Foubert_1997_Hum.Mutat_10_179
PubMedSearch : Foubert_1997_Hum.Mutat_10_179
PubMedID: 9298816
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 : 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 : Bijvoet_1996_Neth.J.Med_49_189
ESTHER : Bijvoet_1996_Neth.J.Med_49_189
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 : Reymer_1995_Hum.Mol.Genet_4_1543
ESTHER : Reymer_1995_Hum.Mol.Genet_4_1543
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 : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
ESTHER : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
PubMedSearch : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468
PubMedID: 7749858

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 : Bijvoet_1994_Hum.Genet_93_339
ESTHER : Bijvoet_1994_Hum.Genet_93_339
PubMedSearch : Bijvoet_1994_Hum.Genet_93_339
PubMedID: 8125488

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 : Ma_1994_Hum.Mutat_3_52
ESTHER : Ma_1994_Hum.Mutat_3_52
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 : Bruin_1994_J.Lipid.Res_35_438
ESTHER : Bruin_1994_J.Lipid.Res_35_438
PubMedSearch : Bruin_1994_J.Lipid.Res_35_438
PubMedID: 7912254

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 : Bruin_1993_J.Lipid.Res_34_2109
ESTHER : Bruin_1993_J.Lipid.Res_34_2109
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 : Bijvoet_1993_Neth.J.Med_42_36
ESTHER : Bijvoet_1993_Neth.J.Med_42_36
PubMedSearch : Bijvoet_1993_Neth.J.Med_42_36
PubMedID: 8446222

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 : Ma_1992_J.Biol.Chem_267_1918
ESTHER : Ma_1992_J.Biol.Chem_267_1918
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 : Bruin_1992_Eur.J.Biochem_208_267
ESTHER : Bruin_1992_Eur.J.Biochem_208_267
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 : Monsalve_1990_J.Clin.Invest_86_728
ESTHER : Monsalve_1990_J.Clin.Invest_86_728
PubMedSearch : Monsalve_1990_J.Clin.Invest_86_728
PubMedID: 1975597
Gene_locus related to this paper: human-LPL