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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.

M V Monsalve, … , T Bruin, M R Murthy

M V Monsalve, … , T Bruin, M R Murthy

Published September 1, 1990
Citation Information: J Clin Invest. 1990;86(3):728-734. https://doi.org/10.1172/JCI114769.

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Understanding Hypertriglyceridemia: Integrating Genetic Insights. Alves M, Laranjeira F, Correia-da-Silva G	Genes & development	2024
Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes Valverde-Hernández JC, Flores-Cruz A, Chavarría-Soley G, Silva de la Fuente S, Campos-Sánchez R	Frontiers in Genetics	2023
Structure and Function of Angiopoietin-like Protein 3 (ANGPTL3) in Atherosclerosis X Lu	Current medicinal chemistry	2020
Association of common gene-smoking interactions with elevated plasma apolipoprotein B concentration N Roy, D Gaudet, G Tremblay, D Brisson	Lipids in Health and Disease	2020
Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia S Tanaka, T Ueno, A Tsunemi, Y Nakamura, H Kobayashi, Y Hatanaka, A Haketa, N Fukuda, M Soma, M Abe	Internal Medicine	2019
Acute Abdomen During Pregnancy G Augustin		2018
Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia A Caddeo, RM Mancina, C Pirazzi, C Russo, K Sasidharan, J Sandstedt, S Maurotti, T Montalcini, A Pujia, TP Leren, S Romeo, P Pingitore	Nutrition, Metabolism, and Cardiovascular Diseases	2017
Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy AP Ashraf, AC Hurst, A Garg	Journal of Clinical Lipidology	2017
Associations of the ABCA1 and LPL Gene Polymorphisms With Lipid Levels in a Hyperlipidemic Population F Tao, J Weinstock, SA Venners, J Cheng, YH Hsu, Y Zou, F Pan, S Jiang, X Zha, X Xu	Clinical and Applied Thrombosis/Hemostasis	2017
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency R Rodrigues, M Artieda, D Tejedor, A Martínez, P Konstantinova, H Petry, C Meyer, D Corzo, C Sundgreen, HU Klor, I Gouni-Berthold, S Westphal, E Steinhagen-Thiessen, U Julius, K Winkler, E Stroes, A Vogt, P Hardt, H Prophet, B Otte, BG Nordestgaard, SS Deeb, JD Brunzell	Journal of Clinical Lipidology	2016
The pathophysiology of intestinal lipoprotein production A Giammanco, AB Cefalù, D Noto, MR Averna	Frontiers in physiology	2015
Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertriglyceridemia and recurrent hyperlipidemic pancreatitis: Plasma exchange for Hypertriglyceridemia DD Bona, AB Cefalù, E Scirè, GM Lima, CM Rizzo, A Giammanco, CM Barbagallo, MR Averna, S Rizzo, C Caruso	Transfusion	2015
The -93T/G LPL Promoter Polymorphism Is Associated With Lower Third-Trimester Triglycerides in Pregnant African American Women MJ Schmella, RE Ferrell, MJ Gallaher, DL Lykins, AD Althouse, JM Roberts, CA Hubel	Biological research for nursing	2015
Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency K Tremblay, CÃ Dubois-Bouchard, D Brisson, D Gaudet	Frontiers in Genetics	2014
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia E Mendoza-Barberá, J Julve, SK Nilsson, A Lookene, JM Martín-Campos, R Roig, AM Lechuga-Sancho, JH Sloan, P Fuentes-Prior, F Blanco-Vaca	Journal of lipid research	2013
Association of lipoprotein lipase polymorphism rs2197089 with serum lipid concentrations and LPL gene expression X Mo, X Liu, L Wang, X Lu, S Chen, H Li, J Huang, J Chen, J Cao, J Li, Y Tang, D Gu	Journal of Human Genetics	2013
From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World JJ Kastelein, CJ Ross, MR Hayden	Human Gene Therapy	2013
Lipoprotein lipase gene polymorphism rs1059611 functionally influences serum lipid concentrations X Mo, X Liu, L Wang, H Li, X Lu, J Huang, J Chen, J Cao, J Li, S Chen, Y Tang, X Peng, D Gu	Atherosclerosis	2013
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia[S] E Mendoza-Barberá, J Julve, SK Nilsson, A Lookene, JM Martín-Campos, R Roig, AM Lechuga-Sancho, JH Sloan, P Fuentes-Prior, F Blanco-Vaca	Journal of lipid research	2013
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia E Mendoza-Barberá, J Julve, SK Nilsson, A Lookene, JM Martín-Campos, R Roig, AM Lechuga-Sancho, JH Sloan, P Fuentes-Prior, F Blanco-Vaca	Journal of lipid research	2013
Physiological Study of Lipoprotein Lipase Gene Pvu II Polymorphism in Cases of Obesity in Egypt A Hendawy, M Hasan, R Elbaz, G El-Kannish, S Elshaer, A Settin	International Journal of Zoological Research	2012
The g.-469G>A polymorphism in the GPIHBP1 gene promoter is associated with hypertriglyceridemia and has an additive effect on the risk conferred by LPL defective alleles SP Guay, D Gaudet, D Brisson	Nutrition Metabolism and Cardiovascular Diseases	2011
Comparison of the efficacy of fibrates on hypertriglyceridemic phenotypes with different genetic and clinical characteristics D Brisson, J Méthot, K Tremblay, M Tremblay, P Perron, D Gaudet	Pharmacogenetics and Genomics	2010
Primeiro relato de uma criança Brasileira portadora da mutação G188E do gene da lipoproteína lipase RT Takata, R Schreiber, E Prado, M Mori, EC de Faria	Revista Paulista de Pediatria	2010
NovelLPLmutations associated with lipoprotein lipase deficiency: two case reports and a literature review AR Rahalkar, F Giffen, B Har, J Ho, KM Morrison, J Hill, J Wang, RA Hegele, T Joy	Canadian Journal of Physiology and Pharmacology	2009
Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals B Das, N Pawar, D Saini, M Seshadri	BMC Medical Genetics	2009
A link between hyperlipidemia and lithium? Confirmation of a recent previous observation G Bardini, CM Rotella, S Giannini, IA Harsch, A Weimann	Metabolism	2009
Genetic epistasis in the VLDL catabolic pathway is associated with deleterious variations on triglyceridemia in obese subjects D Brisson, J St-Pierre, M Santuré, TJ Hudson, JP Després, MC Vohl, D Gaudet	International Journal of Obesity	2007
A 60-y-old chylomicronemia patient homozygous for missense mutation (G188E) in the lipoprotein lipase gene showed no accelerated atherosclerosis T Ebara, Y Endo, S Yoshiike, M Tsuji, S Taguchi, T Murase, M Okubo	Clinica Chimica Acta	2007
Lithium—a role in hyperlipidemia? T Bergmann, EG Hahn, IA Harsch, A Weimann	Metabolism	2007
Apolipoprotein E and lipoprotein lipase gene polymorphisms interaction on the atherogenic combined expression of hypertriglyceridemia and hyperapobetalipoproteinemia phenotypes P Perron, D Brisson, M Santuré, P Blackburn, J Bergeron, MC Vohl, JP Després, D Gaudet	Journal of Endocrinological Investigation	2007
Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency C Garenc, C Couillard, N Laflamme, F Cadelis, C Gagné, P Couture, P Julien, J Bergeron	European Journal of Human Genetics	2005
Population history and its impact on medical genetics in Quebec AM Laberge, J Michaud, A Richter, E Lemyre, M Lambert, B Brais, GA Mitchell	Clinical Genetics	2005
A novel method of identifying genetic mutations using an electrochemical DNA array J Wakai, A Takagi, M Nakayama, T Miya, T Miyahara, T Iwanaga, S Takenaka, Y Ikeda, M Amano, T Urata	Nucleic Acids Research	2004
Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia D Pašalić, Z Jurčić, G Stipančić, G Ferenčak, TP Leren, S Djurovic, A Stavljenić-Rukavina	Clinica Chimica Acta	2004
Hypertriglycéridémie F Labrousse	EMC - Endocrinologie - Nutrition	2004
Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study E Kavazarakis, S Stabouli, D Gourgiotis, K Roumeliotou, J Traeger-Synodinos, A Bossios, A Fretzayas, E Kanavakis	European Journal of Pediatrics	2004
Mutations in the Lipoprotein Lipase Gene as a Cause of Hypertriglyceridemia and Pancreatitis in Taiwan TS Jap, SF Jenq, YC Wu, CY Chiu, HM Cheng	Pancreas	2003
Two cases with transient lipoprotein lipase (LPL) activity impairment: evidence for the possible involvement of an LPL inhibitor H Nagasaka, H Kikuta, H Chiba, T Murano, H Harashima, A Ohtake, H Senzaki, N Sasaki, I Inoue, S Katayama, K Shirai, K Kobayashi	European Journal of Pediatrics	2003
Effect of obesity on HDL and LDL particle sizes in carriers of the null P207L or defective D9N mutation in the lipoprotein lipase gene: the Québec LipD Study IL Ruel, D Gaudet, P Perron, J Bergeron, P Julien, B Lamarche	International Journal of Obesity	2003
Lexikon der Syndrome und Fehlbildungen R Witkowski, O Prokop, E Ullrich, G Thiel		2003
Siblings with hepatosplenomegaly and lipoprotein lipase deficiency JG Schneider, S Schaefer, B Lettgen, T Keiper, PP Nawroth, KA Dugi	The Lancet	2002
Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene J Peterson, AF Ayyobi, Y Ma, H Henderson, M Reina, SS Deeb, S Santamarina-Fojo, MR Hayden, JD Brunzell	Journal of lipid research	2002
HUMANGENETICS: Lessons from Quebec Populations1 CR Scriver	Annual Review of Genomics and Human Genetics	2001
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6 B Gilbert, M Rouis, S Griglio, L Lumley, PM Laplaud	Annales de Génétique	2001
Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the −93G/D9N variant predisposes to low HDL-C/high triglycerides ME Samuels, KC Forbey, JE Reid, V Abkevich, K Bulka, BR Wardell, BR Bowen, PN Hopkins, SC Hunt, DG Ballinger, MH Skolnick, S Wagner	Clinical Genetics	2001
Compound heterozygosity of Leu252Val and Leu252Arg causing lipoprotein lipase deficiency in a Chinese patient with hypertriglyceridemia Chan, Mak, Tomlinson, Baum, Wu, Masarei, Pang	European Journal of Clinical Investigation	2000
A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide T Yoshida, T Gotoda, M Okubo, Y Iizuka, S Ishibashi, T Kojima, T Murakami, T Murase, N Yamada	Journal of Atherosclerosis and Thrombosis	2000
Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers: potential interaction with the polymorphic marker D1S104 on chromosome 1q21–q23 B Hölzl, HG Kraft, H Wiebusch, A Sandhofer, J Patsch, F Sandhofer, B Paulweber	Journal of lipid research	2000
Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese A Takagi, Y Ikeda, K Tachi, T Shinozuka, A Yamamoto	Clinica Chimica Acta	1999
Common mutations of the lipoprotein lipase gene and their clinical significance S Gehrisch	Current Atherosclerosis Reports	1999
Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene CA Hubel, JM Roberts, RE Ferrell	Clinical Genetics	1999
An Overview of Genetic Factors Influencing Plasma Lipid Levels and Coronary Artery Disease Risk IC Ozturk, AA Killeen	Archives of pathology & laboratory medicine	1999
THE FAMILIAL CHYLOMICRONEMIA SYNDROME S Santamarina-Fojo	Endocrinology & Metabolism Clinics of North America	1998
Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population P Julien, C Gagné, MR Murthy, G Lévesque, S Moorjani, F Cadelis, MR Hayden, PJ Lupien	Human Mutation	1998
Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia L Foubert, JL de Gennes, P Benlian, J Truffert, L Miao, MR Hayden	Human Mutation	1998
Ile225Thr loop mutation in thelipoprotein lipase (LPL) gene is a de novo event HE Henderson, SM Bijvoet, MA Mannens, T Bruin, DW Erkelens, MR Hayden, JJ Kastelein	American Journal of Medical Genetics	1998
Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians D Gaudet, MC Vohl, P Julien, G Tremblay, P Perron, C Gagné, J Bergeron, S Moorjani, JP Després	The American Journal of Cardiology	1998
A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis H Henderson, F Leisegang, F Hassan, M Hayden, D Marais	Clinica Chimica Acta	1998
Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study JC Feoli-Fonseca, E Lévy, M Godard, M Lambert	The Journal of Pediatrics	1998
LPL promoter -93T/G transition influences fasting and postprandial plasma triglycerides response in African-Americans and Hispanics PJ Talmud, S Hall, S Holleran, R Ramakrishnan, HN Ginsberg, SE Humphries	Journal of lipid research	1998
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry L Foubert, T Bruin, JL de Gennes, E Ehrenborg, J Furioli, J Kastelein, P Benlian, M Hayden	Human Mutation	1997
Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy F Mailly, J Palmen, DP Muller, T Gibbs, J Lloyd, J Brunzell, P Durrington, K Mitropoulos, J Betteridge, G Watts, H Lithell, F Angelico, SE Humphries, PJ Talmud	Human Mutation	1997
Heterozygous Lipoprotein Lipase Deficiency: Frequency in the General Population, Effect on Plasma Lipid Levels, and Risk of Ischemic Heart Disease BG Nordestgaard, S Abildgaard, HH Wittrup, R Steffensen, G Jensen, A Tybjærg-Hansen	Circulation	1997
Assessment of French patients with LPL deficiency for French Canadian mutations L Foubert, JL Gennes, JP Lagarde, E Ehrenborg, A Raisonnier, JP Girardet, MR Hayden, P Benlian	Journal of medical genetics	1997
A new mutation in the human lipoprotein lipase gene causing familial hyperchylomicronaemia R Anwar, JW Puntis, AF Markham	Molecular Pathology	1997
Molecular pathobiology of the human lipoprotein lipase gene V Murthy, P Julien, C Gagné	Pharmacology & Therapeutics	1996
Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia TW de Bruin, F Mailly, HH van Barlingen, R Fisher, MC Cabezas, P Talmud, GM Dallinga-Thie, SE Humphries	European Journal of Clinical Investigation	1996
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency P Benlian, L Foubert, E Gagné, L Bernard, JL de Gennes, S Langlois, W Robinson, M Hayden	The American Journal of Human Genetics	1996
A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia H Wiebusch, H Funke, R Santer, W Richter, G Assmann	Human Mutation	1996
Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene P Benlian, JL de Gennes, L Foubert, H Zhang, SE Gagné, M Hayden	New England Journal of Medicine	1996
Allele-specific hybridization of lipoprotein lipase and factor-V Leiden missense mutations with direct label alkaline phosphatase-conjugated oligonucleotide probes CP Vary, M Carmody, R LeBlanc, T Hayes, C Rundell, L Keilson	Genetic Analysis: Biomolecular Engineering	1996
A Novel Nonsense Mutation in Exon 1 and a Transition in Intron 3 of the Lipoprotein Lipase Gene T Nakamura, T Suehiro, N Yasuoka, M Yamamoto, H Ito, T Yamano, K Hashimoto	Journal of Atherosclerosis and Thrombosis	1996
Drugs Affecting Lipid Metabolism AM Gotto, R Paoletti, LC Smith, AL Catapano, AS Jackson		1996
Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency S Bijvoet, SE Gagné, S Moorjani, C Gagné, HE Henderson, JC Fruchart, J Dallongeville, P Alaupovic, M Prins, JJ Kastelein, MR Hayden	Journal of lipid research	1996
Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9–>Asn, Tyr262–>His) M Rouis, P Lohse, KA Dugi, P Lohse, OU Beg, R Ronan, GD Talley, JD Brunzell, S Santamarina-Fojo	Journal of lipid research	1996
Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects M Marcil, B Boucher, E Gagné, J Davignon, M Hayden, J Genest	Journal of lipid research	1996
Lipids and atherosclerosis MJ Halpern	Molecular Aspects of Medicine	1995
Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening A Orou, B Fechner, G Utermann, HJ Menzel	Human Mutation	1995
The genetic determinants of plasma cholesterol and response to diet SE Humphries, RE Peacock, PJ Talmud	Baillière's Clinical Endocrinology and Metabolism	1995
Post-prandial lipaemia R Kirchmair, CF Ebenbichler, JR Patsch	Baillière's Clinical Endocrinology and Metabolism	1995
Mutations in the Gene for Lipoprotein Lipase: A Cause for Low HDL Cholesterol Levels in Individuals Heterozygous for Familial Hypercholesterolemia SN Pimstone, SE Gagné, C Gagné, PJ Lupien, D Gaudet, RR Williams, M Kotze, PW Reymer, JC Defesche, JJ Kastelein, S Moorjani, MR Hayden	Arteriosclerosis, thrombosis, and vascular biology	1995
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 H Zhang, PW Reymer, MS Liu, IJ Forsythe, BE Groenemeyer, J Frohlich, JD Brunzell, JJ Kastelein, MR Hayden, Y Ma	Arteriosclerosis, thrombosis, and vascular biology	1995
Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent A Minnich, A Kessling, M Roy, C Giry, G DeLangavant, J Lavigne, S Lussier-Cacan, J Davignon	Journal of lipid research	1995
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries Y Ma, MS Liu, D Chitayat, T Bruin, U Beisiegel, P Benlian, L Foubert, JL de Gennes, H Funke, I Forsythe, S Blaichman, M Papanikolaou, DW Erkelens, J Kastelein, JD Brunzell, MR Hayden	Human Mutation	1994
Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent SM Bijvoet, T Bruin, S Thzgl, HD Bakker, MR Hayden, JJ Kastelein	Human Genetics	1994
Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia E Gagné, J Genest, H Zhang, LA Clarke, MR Hayden	Arteriosclerosis Thrombosis and Vascular Biology	1994
Genetic factors in coronary heart disease U Goldbourt, U de Faire, K Berg		1994
Principles and Treatment of Lipoprotein Disorders G Schettler, AJ Habenicht		1994
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana S Tuzgol, SM Bijvoet, T Bruin, JJ Kastelein, MR Hayden	Journal of medical genetics	1994
High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform Y Ma, TC Ooi, MS Liu, H Zhang, R McPherson, AL Edwards, IJ Forsythe, J Frohlich, JD Brunzell, MR Hayden	Journal of lipid research	1994
A novel amino acid substitution (His183–>Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state H Tenkanen, MR Taskinen, M Antikainen, I Ulmanen, K Kontula, C Ehnholm	Journal of lipid research	1994
A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–>Val) leads to enzyme inactivation and familial chylomicronemia L Previato, O Guardamagna, KA Dugi, R Ronan, GD Talley, S Santamarina-Fojo, HB Brewer	Journal of lipid research	1994
Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene B Hölzl, R Huber, B Paulweber, JR Patsch, F Sandhofer	Journal of lipid research	1994
A newly identified heterozygous lipoprotein lipase gene mutation (Cys239–>stop/TGC972–>TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia A Takagi, Y Ikeda, A Mori, Z Tsutsumi, K Oida, T Nakai, A Yamamoto	Journal of lipid research	1994
A compound heterozygote for lipoprotein lipase deficiency, Val69–>Leu and Gly188–>Glu: correlation between in vitro LPL activity and clinical expression T Bruin, S Tuzgöl, WJ Mulder, AE van den Ende, H Jansen, MR Hayden, JJ Kastelein	Journal of lipid research	1994
Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities G Miesenböck, B Hölzl, B Föger, E Brandstätter, B Paulweber, F Sandhofer, JR Patsch	Journal of Clinical Investigation	1993
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene Y Ma, MS Liu, D Ginzinger, J Frohlich, JD Brunzell, MR Hayden	Journal of Clinical Investigation	1993
The application of molecular biology techniques to the diagnosis of hyperlipidaemia and other risk factors for cardiovascular disease SE Humphries	Clinica Chimica Acta	1993
Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency A Zambon, JD Brunzell, A Torres, C Gagne, S Moorjani, PJ Lupien, MR Hayden, S Bijvoet	The Lancet	1993
No prescription for despair A Robinson	CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne	1993
Lipoprotein lipase gene expression: Physiological regulators at the transcriptional and post-transcriptional level S Enerbäck, JM Gimble	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1993
Advances in Human Genetics 21 H Harris, K Hirschhorn		1993
Human Apolipoprotein Mutants III CR Sirtori, G Franceschini, BH Brewer		1993
Analysis of techniques to obtain plasma for measurement of levels of free fatty acids A Zambon, SI Hashimoto, JD Brunzell	Journal of lipid research	1993
Overexpression of human lipoprotein lipase in transgenic mice. Resistance to diet-induced hypertriglyceridemia and hypercholesterolemia M Shimada, H Shimano, T Gotoda, K Yamamoto, M Kawamura, T Inaba, Y Yazaki, N Yamada	The Journal of biological chemistry	1993
Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154–>Ser substitution in lipoprotein lipase T Bruin, S Tuzgöl, DE van Diermen, NH der Linden, JD Brunzell, MR Hayden, JJ Kastelein	Journal of lipid research	1993
Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region HE Henderson, Y Ma, Liu, I Clark-Lewis, DL Maeder, JJ Kastelein, JD Brunzell, Hayden	Journal of lipid research	1993
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene S Wood, M Schertzer, M Hayden, Y Ma	Human Genetics	1993
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript A Takagi, Y Ikeda, Z Tsutsumi, T Shoji, A Yamamoto	Journal of Clinical Investigation	1992
Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II SS Fojo, HB Brewer	Journal of Internal Medicine	1992
The Use of PCR in Diagnosing Lipoprotein Disorders K Kontula, UM Koivisto, H Miettinen	Annals of Medicine	1992
A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity T BRUIN, JJ KASTELEIN, DE DIERMEN, Y MA, HE HENDERSON, PM STUYT, AF STALENHOEF, A STURK, JD BRUNZELL, MR HAYDEN	European Journal of Biochemistry	1992
A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries Y Ma, BI Wilson, S Bijvoet, HE Henderson, E Cramb, G Roederer, MR Murthy, P Julien, HD Bakker, JJ Kastelein, JD Brunzell, MR Hayden	Genomics	1992
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec J Bergeron, T Normand, A Bharucha, MR Murtby, P Julien, C Gagné, C Dionne, M Braekeleer, D Brun, MR Hayden, PJ Luplen	Clinical Genetics	1992
Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada JC Defesche, MA Ree, JJ Kastelein, DE Diermen, NW Janssans, JJ Doormaal, MR Hayden	Clinical Genetics	1992
Regulation of the synthesis, processing and translocation of lipoprotein lipase JE Braun, DL Severson	Biochemical Journal	1992
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia K Ishimura-Oka, F Faustinella, S Kihara, LC Smith, K Oka, L Chan	The American Journal of Human Genetics	1992
A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family G Chimienti, A Capurso, F Resta, G Pepe	Biochemical and Biophysical Research Communications	1992
Structure and functional properties of lipoprotein lipase CS Wang, J Hartsuck, WJ McConathy	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1992
Mapping of the epitope on lipoprotein lipase recognized by a monoclonal antibody (5D2) which inhibits lipase activity MS Liu, Y Ma, MR Hayden, JD Brunzell	Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism	1992
Lipoprotein Lipase: Recent Contributions from Molecular Biology J Auwerx, P Leroy, K Schoonjans	Critical Reviews in Clinical Laboratory Sciences	1992
Alterations in erythrocyte membrane lipid composition and fluidity in primary lipoprotein lipase deficiency B Cantin, LD Brun, C Gagné, MR Murthy, PJ Lupien, P Julien	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	1992
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency T Gotoda, N Yamada, T Murase, S Miyake, R Murakami, M Kawamura, K Kozaki, N Mori, H Shimano, M Shimada, Y Yazaki	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease	1992
The molecular defects in lipoprotein lipase deficient patients SS Fojo, O Beg, H Dichek, HB Brewer	European Journal of Epidemiology	1992
The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency HE Henderson, F Hassan, GM Berger, MR Hayden	Journal of medical genetics	1992
Trp64—-nonsense mutation in the lipoprotein lipase gene DL Sprecher, J Kobayashi, M Rymaszewski, IJ Goldberg, BV Harris, PS Bellet, D Ameis, RL Yunker, DM Black, EA Stein	Journal of lipid research	1992
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 YH Ma, T Bruin, S Tuzgol, BI Wilson, G Roederer, MS Liu, J Davignon, JJ Kastelein, JD Brunzell, MR Hayden	The Journal of biological chemistry	1992
A missense (Asp250—-Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency K Ishimura-Oka, CF Semenkovich, F Faustinella, IJ Goldberg, N Shachter, LC Smith, T Coleman, WA Hide, WV Brown, K Oka	Journal of lipid research	1992
Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes M Reina, JD Brunzell, SS Deeb	Journal of lipid research	1992
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization A Hata, DN Ridinger, SD Sutherland, M Emi, LK Kwong, J Shuhua, A Lubbers, B Guy-Grand, A Basdevant, PH Iverius	The Journal of biological chemistry	1992
Molecular genetics of human lipoprotein lipase deficiency MR Hayden, Y Ma	Molecular and Cellular Biochemistry	1992
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec T Normand, J Bergeron, T Fernandez-Margallo, A Bharucha, MR Murthy, P Julien, C Gagné, C Dionne, MD Braekeleer, R Ma, MR Hayden, PJ Lupien	Human Genetics	1992
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin HE Henderson, Y Ma, MF Hassan, MV Monsalve, AD Marais, F Winkler, K Gubernator, J Peterson, JD Brunzell, MR Hayden	Journal of Clinical Investigation	1991
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency T Gotoda, N Yamada, M Kawamura, K Kozaki, N Mori, S Ishibashi, H Shimano, F Takaku, Y Yazaki, Y Furuichi	Journal of Clinical Investigation	1991
A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians Y Ma, HE Henderson, MR Murthy, G Roederer, MV Monsalve, LA Clarke, T Normand, P Julien, C Gagné, M Lambert, J Davignon, PJ Lupien, J Brunzell, MR Hayden	New England Journal of Medicine	1991
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome HL Dichek, SS Fojo, OU Beg, SI Skarlatos, JD Brunzell, GB Cutler, HB Brewer	The Journal of biological chemistry	1991
Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family F Faustinella, A Chang, JP Biervliet, M Rosseneu, N Vinaimont, LC Smith, SH Chen, L Chan	The Journal of biological chemistry	1991
Effects of gene mutations in lipoprotein and hepatic lipases as interpreted by a molecular model of the pancreatic triglyceride lipase ZS Derewenda, C Cambillau	The Journal of biological chemistry	1991
Rabbit hepatic lipase cDNA sequence: low activity is associated with low messenger RNA levels RJ Warren, DL Ebert, A Mitchell, PJ Barter	Journal of lipid research	1991

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