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 *

197 related articles for article (PubMed ID: 1662503)

  • 1. Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease.
    Bujo H; Kusunoki J; Ogasawara M; Yamamoto T; Ohta Y; Shimada T; Saito Y; Yoshida S
    Biochem Biophys Res Commun; 1991 Dec; 181(3):933-40. PubMed ID: 1662503
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.
    Maeda E; Naka Y; Matozaki T; Sakuma M; Akanuma Y; Yoshino G; Kasuga M
    Biochem Biophys Res Commun; 1991 Jul; 178(2):460-6. PubMed ID: 1859405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.
    Okubo M; Aoyama Y; Shio H; Albers JJ; Murase T
    Int J Clin Lab Res; 1996; 26(4):250-4. PubMed ID: 9007616
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.
    Teh EM; Chisholm JW; Dolphin PJ; Pouliquen Y; Savoldelli M; de Gennes JL; Benlian P
    Atherosclerosis; 1999 Sep; 146(1):141-51. PubMed ID: 10487497
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. [Molecular defects in familial LCAT deficiency].
    Bujo H; Saito Y
    Nihon Rinsho; 1993 Feb; 51(2):482-7. PubMed ID: 8464161
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency.
    Miettinen H; Gylling H; Ulmanen I; Miettinen TA; Kontula K
    Arterioscler Thromb Vasc Biol; 1995 Apr; 15(4):460-7. PubMed ID: 7749857
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.
    Dorval I; Jezequel P; Dubourg C; Chauvel B; Le Pogamp P; Le Gall JY
    Atherosclerosis; 1994 Feb; 105(2):251-2. PubMed ID: 8003101
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype.
    Baass A; Wassef H; Tremblay M; Bernier L; Dufour R; Davignon J
    Atherosclerosis; 2009 Dec; 207(2):452-7. PubMed ID: 19515369
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency.
    Li M; Kuivenhoven JA; Ayyobi AF; Pritchard PH
    Biochim Biophys Acta; 1998 Mar; 1391(2):256-64. PubMed ID: 9555046
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.
    Roshan B; Ganda OP; Desilva R; Ganim RB; Ward E; Haessler SD; Polisecki EY; Asztalos BF; Schaefer EJ
    J Clin Lipidol; 2011; 5(6):493-9. PubMed ID: 22108153
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.