These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 1907278)

  • 1. 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]  

  • 2. 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]  

  • 3. Functional topology of a surface loop shielding the catalytic center in lipoprotein lipase.
    Faustinella F; Smith LC; Chan L
    Biochemistry; 1992 Aug; 31(32):7219-23. PubMed ID: 1510914
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.
    Kobayashi J; Nishida T; Ameis D; Stahnke G; Schotz MC; Hashimoto H; Fukamachi I; Shirai K; Saito Y; Yoshida S
    Biochem Biophys Res Commun; 1992 Jan; 182(1):70-7. PubMed ID: 1731801
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.
    Emi M; Wilson DE; Iverius PH; Wu L; Hata A; Hegele R; Williams RR; Lalouel JM
    J Biol Chem; 1990 Apr; 265(10):5910-6. PubMed ID: 1969408
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.
    Bruin T; Kastelein JJ; Van Diermen DE; Ma Y; Henderson HE; Stuyt PM; Stalenhoef AF; Sturk A; Brunzell JD; Hayden MR
    Eur J Biochem; 1992 Sep; 208(2):267-72. PubMed ID: 1521525
    [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. 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]  

  • 10. Potentially protective effects of the Ser447-Ter mutation of the lipoprotein lipase gene against the development of coronary artery disease in Japanese subjects via a beneficial lipid profile.
    Sawano M; Watanabe Y; Ohmura H; Shimada K; Daida H; Mokuno H; Yamaguchi H
    Jpn Circ J; 2001 Apr; 65(4):310-4. PubMed ID: 11316129
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
    Previato L; Guardamagna O; Dugi KA; Ronan R; Talley GD; Santamarina-Fojo S; Brewer HB
    J Lipid Res; 1994 Sep; 35(9):1552-60. PubMed ID: 7806969
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia.
    Paulweber B; Wiebusch H; Miesenboeck G; Funke H; Assmann G; Hoelzl B; Sippl MJ; Friedl W; Patsch JR; Sandhofer F
    Atherosclerosis; 1991 Feb; 86(2-3):239-50. PubMed ID: 1872917
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation.
    Kozaki K; Gotoda T; Kawamura M; Shimano H; Yazaki Y; Ouchi Y; Orimo H; Yamada N
    J Lipid Res; 1993 Oct; 34(10):1765-72. PubMed ID: 8245726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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 BE; Hallman MD; Reymer PW; Gagné E; Kuivenhoven JA; Bruin T; Jansen H; Lie KI; Bruschke AV; Boerwinkle E; Hayden MR; Kastelein JJ
    Circulation; 1997 Jun; 95(12):2628-35. PubMed ID: 9193431
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
    Haubenwallner S; Hörl G; Shachter NS; Presta E; Fried SK; Höfler G; Kostner GM; Breslow JL; Zechner R
    Genomics; 1993 Nov; 18(2):392-6. PubMed ID: 8288243
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.
    Takagi A; Ikeda Y; Mori A; Tsutsumi Z; Oida K; Nakai T; Yamamoto A
    J Lipid Res; 1994 Nov; 35(11):2008-18. PubMed ID: 7868979
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.