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5. 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]
6. 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]
7. 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]
8. A novel pathogenic variant in LCAT causing FLD. A case report. Goñi Ros N; González-Tarancón R; Sienes Bailo P; Salvador-Ruperez E; Puzo Bayod M; Puzo Foncillas J Acta Clin Belg; 2022 Dec; 77(6):970-975. PubMed ID: 34789074 [TBL] [Abstract][Full Text] [Related]
9. Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review. Shoji K; Morita H; Ishigaki Y; Rivard CJ; Takayasu M; Nakayama K; Nakayama T; Inoue Y; Ayaki M; Yoshimura A Clin Nephrol; 2011 Oct; 76(4):323-8. PubMed ID: 21955868 [TBL] [Abstract][Full Text] [Related]
11. A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency. Vitali C; Bajaj A; Nguyen C; Schnall J; Chen J; Stylianou K; Rader DJ; Cuchel M J Lipid Res; 2022 Mar; 63(3):100169. PubMed ID: 35065092 [TBL] [Abstract][Full Text] [Related]
12. [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]
13. Current Status of Familial LCAT Deficiency in Japan. Kuroda M; Bujo H; Yokote K; Murano T; Yamaguchi T; Ogura M; Ikewaki K; Koseki M; Takeuchi Y; Nakatsuka A; Hori M; Matsuki K; Miida T; Yokoyama S; Wada J; Harada-Shiba M J Atheroscler Thromb; 2021 Jul; 28(7):679-691. PubMed ID: 33867422 [TBL] [Abstract][Full Text] [Related]
14. Effects of site-directed mutagenesis on the serine residues of human lecithin:cholesterol acyltransferase. Qu SJ; Fan HZ; Blanco-Vaca F; Pownall HJ Lipids; 1994 Dec; 29(12):803-9. PubMed ID: 7854004 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
18. 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]
19. LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred. Mehta R; Elías-López D; Martagón AJ; Pérez-Méndez OA; Sánchez MLO; Segura Y; Tusié MT; Aguilar-Salinas CA Lipids Health Dis; 2021 Jul; 20(1):70. PubMed ID: 34256778 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]