171 related articles for article (PubMed ID: 1619366)
1. A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
Ishimura-Oka K; Semenkovich CF; Faustinella F; Goldberg IJ; Shachter N; Smith LC; Coleman T; Hide WA; Brown WV; Oka K
J Lipid Res; 1992 May; 33(5):745-54. PubMed ID: 1619366
[TBL] [Abstract][Full Text] [Related]
2. A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
Ma Y; Wilson BI; Bijvoet S; Henderson HE; Cramb E; Roederer G; Ven Murthy MR; Julien P; Bakker HD; Kastelein JJ
Genomics; 1992 Jul; 13(3):649-53. PubMed ID: 1639392
[TBL] [Abstract][Full Text] [Related]
3. 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 SM; Wiebusch H; Ma Y; Reymer PW; Bruin T; Bakker HD; Funke H; Assmann G; Hayden MR; Kastelein JJ
Neth J Med; 1996 Nov; 49(5):189-95. PubMed ID: 8973094
[TBL] [Abstract][Full Text] [Related]
4. Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.
Faustinella F; Chang A; Van Biervliet JP; Rosseneu M; Vinaimont N; Smith LC; Chen SH; Chan L
J Biol Chem; 1991 Aug; 266(22):14418-24. PubMed ID: 1907278
[TBL] [Abstract][Full Text] [Related]
5. Lipoprotein lipase gene mutations in coronary artery disease.
Minnich A; Baloukas J; Roederer G; Lussier-Cacan S; Davignon J; Genest J
Can J Cardiol; 1998 May; 14(5):711-6. PubMed ID: 9627528
[TBL] [Abstract][Full Text] [Related]
6. 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 MV; Henderson H; Roederer G; Julien P; Deeb S; Kastelein JJ; Peritz L; Devlin R; Bruin T; Murthy MR
J Clin Invest; 1990 Sep; 86(3):728-34. PubMed ID: 1975597
[TBL] [Abstract][Full Text] [Related]
7. 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.
Henderson HE; Ma Y; Hassan MF; Monsalve MV; Marais AD; Winkler F; Gubernator K; Peterson J; Brunzell JD; Hayden MR
J Clin Invest; 1991 Jun; 87(6):2005-11. PubMed ID: 1674945
[TBL] [Abstract][Full Text] [Related]
8. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
Ikeda Y; Goji K; Takagi A
Clin Sci (Lond); 2000 Dec; 99(6):569-78. PubMed ID: 11099402
[TBL] [Abstract][Full Text] [Related]
9. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
Dichek HL; Fojo SS; Beg OU; Skarlatos SI; Brunzell JD; Cutler GB; Brewer HB
J Biol Chem; 1991 Jan; 266(1):473-7. PubMed ID: 1702428
[TBL] [Abstract][Full Text] [Related]
10. Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.
Hölzl B; Huber R; Paulweber B; Patsch JR; Sandhofer F
J Lipid Res; 1994 Dec; 35(12):2161-9. PubMed ID: 7897314
[TBL] [Abstract][Full Text] [Related]
11. A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
Takagi A; Ikeda Y; Takeda E; Yamamoto A
Biochim Biophys Acta; 2000 Nov; 1502(3):433-46. PubMed ID: 11068186
[TBL] [Abstract][Full Text] [Related]
12. Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
Gotoda T; Yamada N; Kawamura M; Kozaki K; Mori N; Ishibashi S; Shimano H; Takaku F; Yazaki Y; Furuichi Y; Murase T
J Clin Invest; 1991 Dec; 88(6):1856-64. PubMed ID: 1752947
[TBL] [Abstract][Full Text] [Related]
13. Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families.
Elbein SC; Yeager C; Kwong LK; Lingam A; Inoue I; Lalouel JM; Wilson DE
J Clin Endocrinol Metab; 1994 Nov; 79(5):1450-6. PubMed ID: 7962342
[TBL] [Abstract][Full Text] [Related]
14. 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 YH; Bruin T; Tuzgol S; Wilson BI; Roederer G; Liu MS; Davignon J; Kastelein JJ; Brunzell JD; Hayden MR
J Biol Chem; 1992 Jan; 267(3):1918-23. PubMed ID: 1730727
[TBL] [Abstract][Full Text] [Related]
15. Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).
Rouis M; Lohse P; Dugi KA; Lohse P; Beg OU; Ronan R; Talley GD; Brunzell JD; Santamarina-Fojo S
J Lipid Res; 1996 Mar; 37(3):651-61. PubMed ID: 8728326
[TBL] [Abstract][Full Text] [Related]
16. A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression.
Bruin T; Tuzgöl S; Mulder WJ; van den Ende AE; Jansen H; Hayden MR; Kastelein JJ
J Lipid Res; 1994 Mar; 35(3):438-45. PubMed ID: 7912254
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
Reina M; Brunzell JD; Deeb SS
J Lipid Res; 1992 Dec; 33(12):1823-32. PubMed ID: 1479292
[TBL] [Abstract][Full Text] [Related]
18. 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.
Takagi A; Ikeda Y; Tsutsumi Z; Shoji T; Yamamoto A
J Clin Invest; 1992 Feb; 89(2):581-91. PubMed ID: 1737848
[TBL] [Abstract][Full Text] [Related]
19. In vitro expression and site-specific mutagenesis of the cloned human lipoprotein lipase gene. Potential N-linked glycosylation site asparagine 43 is important for both enzyme activity and secretion.
Semenkovich CF; Luo CC; Nakanishi MK; Chen SH; Smith LC; Chan L
J Biol Chem; 1990 Apr; 265(10):5429-33. PubMed ID: 2318821
[TBL] [Abstract][Full Text] [Related]
20. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
Ameis D; Kobayashi J; Davis RC; Ben-Zeev O; Malloy MJ; Kane JP; Lee G; Wong H; Havel RJ; Schotz MC
J Clin Invest; 1991 Apr; 87(4):1165-70. PubMed ID: 2010533
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
