| 1 | LCAT
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| The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
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| Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasca 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.
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| Arterioscler Thromb Vasc Biol 25(9):1972-8. Epub 2005 Jun 30. 2005
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| 2 | FCHL1, FCHL2, LCAT
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| Genetics of familial combined hyperlipidemia and risk of coronary heart disease.
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| Shoulders CC, Jones EL, Naoumova RP.
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| Hum Mol Genet 13 Spec No 1:R149-60. Epub 2004 Feb 05. 2004
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| 3 | LCAT
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| 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.
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| Teh EM, Chisholm JW, Dolphin PJ, Pouliquen Y, Savoldelli M, de Gennes JL, Benlian P.
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| Atherosclerosis 146(1):141-51 1999
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| 4 | LCAT
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| Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q.
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| Aouizerat BE, Allayee H, Cantor RM, Dallinga-Thie GM, Lanning CD, de Bruin TW, Lusis AJ, Rotter JI.
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| Arterioscler Thromb Vasc Biol 19(11):2730-6 1999
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| 5 | LCAT
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| 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.
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| Li M, et al.
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| Biochim Biophys Acta 1391 : 256-264. 1998
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| 6 | LCAT
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| The molecular pathology of lecithin : cholesterol acyltransferase (LCAT) deficiency syndromes.
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| Kuivenhoven JA, et al.
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| J Lipid Res 38 : 191-205. 1997
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| 7 | LCAT
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| The gene cluster containing the LCAT gene is conserved between human and pig.
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| Frengen E, Thomsen PD, Brede G, Solheim J, de Jong PJ, Prydz H.
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| Cytogenet Cell Genet 76(1-2):53-7. 1997
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| 8 | LCAT
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| Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop).
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| Guerin M, Dachet C, Goulinet S, Chevet D, Dolphin PJ, Chapman MJ, Rouis M.
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| Atherosclerosis 131(1):85-95. 1997
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| 9 | LCAT
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| Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.
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| Blanco-Vaca F, Qu SJ, Fiol C, Fan HZ, Pao Q, Marzal-Casacuberta A, Albers JJ, Hurtado I, Gracia V, Pinto X, Marti T, Pownall HJ.
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| Arterioscler Thromb Vasc Biol 17(7):1382-91. 1997
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| 10 | LCAT
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| Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.
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| Owen JS, et al.
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| Hum Mutat 8 : 79-82. 1996
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| 11 | LCAT
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| An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).
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| Kuivenhoven JA, et al.
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| J Clin Invest 98 : 358-364. 1996
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| 12 | LCAT
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| Deficiency of lecithin : cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.
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| Wiebusch H, et al.
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| Hum Mol Genet 4 : 143-145. 1995
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| 13 | LCAT
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| A single G to A nucleotide transition in exon IV of the lecithin : cholesterol acyltransferase (LCAT) gene results in an Arg140 to his substitution and causes LCAT-deficiency.
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| Steyrer E, et al.
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| Hum Genet 96 : 105-109. 1995
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| 14 | LCAT
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| Physical linkage of the gene cluster containing the LCAT gene to the DNA marker D16S124 at human chromosome region 16q22.1.
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| Frengen E, et al.
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| Cytogenet Cell Genet 68 : 194-196. 1995
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| 15 | LCAT
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| Identification of the homozygous missense mutation in the lecithin : cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.
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| Dorval I, et al.
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| Atherosclerosis 105 : 251-252. 1994
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| 16 | LCAT
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| 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.
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| Klein HG, et al.
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| J Clin Invest 92 : 479-485. 1993
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| 17 | LCAT
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| Genetic and phenotypic hererogeneity in familial lecithin : cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
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| Funke H, et al.
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| J Clin Invest 91 : 677-683. 1993
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| 18 | CTRL, LCAT, PSKH1, PSMB10, SLC12A4
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| A tight cluster of five unrelated human genes on chromosome 16q22.1.
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| Larsen F, et al.
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| Hum Mol Genet 2 : 1589-1595. 1993
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| 19 | LCAT
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| The genetic defect of the original Norwegian lecithin : cholesterol acyltransferase deficiency families.
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| Skretting G, et al.
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| FEBS Lett 309 : 307-310. 1992
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| 20 | LCAT
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| Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome.
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| Klein HG, et al.
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| J Clin Invest 89 : 499-506. 1992
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| 21 | LCAT
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| A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.
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| Funke H, et al.
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| Proc Natl Acad Sci U S A 88 : 4855-4859. 1991
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| 22 | LCAT
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| Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.
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| Maeda E, et al.
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| Biochem Biophys Res Commun 178 : 460-466. 1991
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| 23 | LCAT
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| Molecular defect in familial lecithin : cholesterol acyltransferase (LCAT) deficiency : a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease.
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| Bujo H, et al.
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| Biochem Biophys Res Commun 181 : 933-940. 1991
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| 24 | FED, GP1BA, LCAT, PVWD
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| Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
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| Miller JL, Cunningham D, Lyle VA, Finch CN.
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| Proc Natl Acad Sci U S A 88(11):4761-5. 1991
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| 25 | LCAT
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| Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.
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| Taramelli R, et al.
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| Hum Genet 85 : 195-199. 1990
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| 26 | LCAT
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| The structural gene for lecithin : cholesterol acyl transferase (LCAT) maps to 16q22.
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| Azoulay M, et al.
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| Ann Hum Genet 51 : 129-136. 1987
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| 27 | LCAT
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| The structural gene for human lecithin : cholesterol acyl transferase(LCAT) maps to 16q22.
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| Azoulay M, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 573. 1985
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| 28 | FED, LCAT
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| Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia.
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| Carlson LA.
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| Eur J Clin Invest 12(1):41-53. 1982
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| 29 | FED, LCAT
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| Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.
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| Frohlich J, Hon K, McLeod R.
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| Am J Hum Genet 34(1):65-72. 1982
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| 30 | LCAT
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| Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.
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| Teisberg P, et al.
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| Ann Hum Genet 38 : 327-331. 1975
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| 31 | LCAT
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| Probable linkage of LCAT locus in man to the î-haptoglobin locus on chromosome 16.
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| Teisberg P, et al.
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| Nature 249 : 550-551. 1974
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| 32 | LCAT
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| Familial serum-cholesterol esterification failure. A new inborn error of metabolism.
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| Norum KR, et al.
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| Biochim Biophys Acta 144 : 698-700. 1967
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