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 *

448 related articles for article (PubMed ID: 8326012)

  • 1. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.
    Klein HG; Santamarina-Fojo S; Duverger N; Clerc M; Dumon MF; Albers JJ; Marcovina S; Brewer HB
    J Clin Invest; 1993 Jul; 92(1):479-85. PubMed ID: 8326012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.
    Contacos C; Sullivan DR; Rye KA; Funke H; Assmann G
    J Lipid Res; 1996 Jan; 37(1):35-44. PubMed ID: 8820100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
    Klein HG; Lohse P; Pritchard PH; Bojanovski D; Schmidt H; Brewer HB
    J Clin Invest; 1992 Feb; 89(2):499-506. PubMed ID: 1737840
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).
    Klein HG; Lohse P; Duverger N; Albers JJ; Rader DJ; Zech LA; Santamarina-Fojo S; Brewer HB
    J Lipid Res; 1993 Jan; 34(1):49-58. PubMed ID: 8445342
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
    Hörl G; Kroisel PM; Wagner E; Tiran B; Petek E; Steyrer E
    Atherosclerosis; 2006 Jul; 187(1):101-9. PubMed ID: 16216249
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.
    Idzior-Waluś B; Sieradzki J; Kostner G; Małecki MT; Klupa T; Wesołowska T; Rostworowski W; Hartwich J; Waluś M; Kieć AD; Naruszewicz M
    Atherosclerosis; 2006 Apr; 185(2):413-20. PubMed ID: 16051254
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop).
    Guerin M; Dachet C; Goulinet S; Chevet D; Dolphin PJ; Chapman MJ; Rouis M
    Atherosclerosis; 1997 May; 131(1):85-95. PubMed ID: 9180249
    [TBL] [Abstract][Full Text] [Related]  

  • 8. In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene.
    Klein HG; Duverger N; Albers JJ; Marcovina S; Brewer HB; Santamarina-Fojo S
    J Biol Chem; 1995 Apr; 270(16):9443-7. PubMed ID: 7721870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.
    Miida T; Zhang B; Obayashi K; Seino U; Zhu Y; Ito T; Nakamura Y; Okada M; Saku K
    Clin Chim Acta; 2004 May; 343(1-2):201-8. PubMed ID: 15115696
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.
    Argyropoulos G; Jenkins A; Klein RL; Lyons T; Wagenhorst B; St Armand J; Marcovina SM; Albers JJ; Pritchard PH; Garvey WT
    J Lipid Res; 1998 Sep; 39(9):1870-6. PubMed ID: 9741700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.
    Simonelli S; Tinti C; Salvini L; Tinti L; Ossoli A; Vitali C; Sousa V; Orsini G; Nolli ML; Franceschini G; Calabresi L
    Biologicals; 2013 Nov; 41(6):446-9. PubMed ID: 24140107
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A unique genetic and biochemical presentation of fish-eye disease.
    Kuivenhoven JA; van Voorst tot Voorst EJ; Wiebusch H; Marcovina SM; Funke H; Assmann G; Pritchard PH; Kastelein JJ
    J Clin Invest; 1995 Dec; 96(6):2783-91. PubMed ID: 8675648
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease].
    Bujo H; Saito Y
    Nihon Rinsho; 1995 May; 53(5):1260-6. PubMed ID: 7602789
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.
    Tobar HE; Cataldo LR; González T; Rodríguez R; Serrano V; Arteaga A; Álvarez-Mercado A; Lagos CF; Vicuña L; Miranda JP; Pereira A; Bravo C; Aguilera CM; Eyheramendy S; Uauy R; Martínez Á; Gil Á; Francone O; Rigotti A; Santos JL
    Lipids Health Dis; 2019 Jun; 18(1):132. PubMed ID: 31164121
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser).
    Moriyama K; Sasaki J; Arakawa F; Takami N; Maeda E; Matsunaga A; Takada Y; Midorikawa K; Yanase T; Yoshino G
    J Lipid Res; 1995 Nov; 36(11):2329-43. PubMed ID: 8656071
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Catalytically inactive lecithin: cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency.
    Yang XP; Inazu A; Honjo A; Koizumi I; Kajinami K; Koizumi J; Marcovina SM; Albers JJ; Mabuchi H
    J Lipid Res; 1997 Mar; 38(3):585-91. PubMed ID: 9101439
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
    Conca P; Pileggi S; Simonelli S; Boer E; Boscutti G; Magnolo L; Tarugi P; Penco S; Franceschini G; Calabresi L; Gomaraschi M
    J Clin Lipidol; 2012; 6(3):244-50. PubMed ID: 22658148
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
    Funke H; von Eckardstein A; Pritchard PH; Hornby AE; Wiebusch H; Motti C; Hayden MR; Dachet C; Jacotot B; Gerdes U
    J Clin Invest; 1993 Feb; 91(2):677-83. PubMed ID: 8432868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein.
    O K; Hill JS; Wang X; Pritchard PH
    J Lipid Res; 1993 Jan; 34(1):81-8. PubMed ID: 8445345
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
    Calabresi L; Pisciotta L; Costantin A; Frigerio I; Eberini I; Alessandrini P; Arca M; Bon GB; Boscutti G; Busnach G; Frascà G; Gesualdo L; Gigante M; Lupattelli G; Montali A; Pizzolitto S; Rabbone I; Rolleri M; Ruotolo G; Sampietro T; Sessa A; Vaudo G; Cantafora A; Veglia F; Calandra S; Bertolini S; Franceschini G
    Arterioscler Thromb Vasc Biol; 2005 Sep; 25(9):1972-8. PubMed ID: 15994445
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.