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.
171 related articles for article (PubMed ID: 20938102)
1. Point mutation (C to T) of the LCAT gene resulting in A140C substitution. Hirashio S; Izumi K; Ueno T; Arakawa T; Naito T; Taguchi T; Yorioka N J Atheroscler Thromb; 2010 Dec; 17(12):1297-301. PubMed ID: 20938102 [TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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 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]
8. 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]
9. 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]
10. Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency. Wang XL; Osuga J; Tazoe F; Okada K; Nagashima S; Takahashi M; Ohshiro T; Bayasgalan T; Yagyu H; Okada K; Ishibashi S J Atheroscler Thromb; 2011; 18(8):713-9. PubMed ID: 21597230 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
15. Japanese family with a deficiency of lecithin:cholesterol acyltransferase (LCAT). Naito M; Maeda E; Yoshino G; Kasuga M; Iguchi A; Kuzuya F Intern Med; 1994 Nov; 33(11):677-82. PubMed ID: 7849380 [TBL] [Abstract][Full Text] [Related]
16. [LCAT deficiency: a nephrological diagnosis]. Boscutti G; Calabresi L; Pizzolitto S; Boer E; Bosco M; Mattei PL; Martone M; Milutinovic N; Berbecar D; Beltram E; Franceschini G G Ital Nefrol; 2011; 28(4):369-82. PubMed ID: 21809306 [TBL] [Abstract][Full Text] [Related]
19. Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment. Naito S; Kamata M; Furuya M; Hayashi M; Kuroda M; Bujo H; Kamata K Atherosclerosis; 2013 May; 228(1):193-7. PubMed ID: 23522979 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]