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26. The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred. Fountoulakis N; Lioudaki E; Lygerou D; Dermitzaki EK; Papakitsou I; Kounali V; Holleboom AG; Stratigis S; Belogianni C; Syngelaki P; Stratakis S; Evangeliou A; Gakiopoulou H; Kuivenhoven JA; Wevers R; Dafnis E; Stylianou K Am J Kidney Dis; 2019 Oct; 74(4):510-522. PubMed ID: 31103331 [TBL] [Abstract][Full Text] [Related]
27. Deletion of N-terminal amino acids from human lecithin:cholesterol acyltransferase differentially affects enzyme activity toward alpha- and beta-substrate lipoproteins. Vickaryous NK; Teh EM; Stewart B; Dolphin PJ; Too CK; McLeod RS Biochim Biophys Acta; 2003 Mar; 1646(1-2):164-72. PubMed ID: 12637024 [TBL] [Abstract][Full Text] [Related]
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29. A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. Nanjee MN; Stocks J; Cooke CJ; Molhuizen HO; Marcovina S; Crook D; Kastelein JP; Miller NE Atherosclerosis; 2003 Sep; 170(1):105-13. PubMed ID: 12957688 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. 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]
33. Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism. Hill JS; O K; Wang X; Pritchard PH Biochim Biophys Acta; 1993 Jun; 1181(3):321-3. PubMed ID: 8318557 [TBL] [Abstract][Full Text] [Related]
35. A normal rate of cellular cholesterol removal can be mediated by plasma from a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency. Bérard AM; Clerc M; Brewer B; Santamarina-Fojo S Clin Chim Acta; 2001 Dec; 314(1-2):131-9. PubMed ID: 11718688 [TBL] [Abstract][Full Text] [Related]
36. [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]
37. Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. Holleboom AG; Kuivenhoven JA; van Olden CC; Peter J; Schimmel AW; Levels JH; Valentijn RM; Vos P; Defesche JC; Kastelein JJ; Hovingh GK; Stroes ES; Hollak CE Atherosclerosis; 2011 May; 216(1):161-5. PubMed ID: 21315357 [TBL] [Abstract][Full Text] [Related]
38. 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. Steyrer E; Haubenwallner S; Hörl G; Giessauf W; Kostner GM; Zechner R Hum Genet; 1995 Jul; 96(1):105-9. PubMed ID: 7607641 [TBL] [Abstract][Full Text] [Related]
39. 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]