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Items: 1 to 20 of 212

1.

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. Epub 2005 Jun 30.

2.

Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.

Conca P, Pileggi S, Simonelli S, Boer E, Boscutti G, Magnolo L, Tarugi P, Penco S, Franceschini G, Calabresi L, Gomaraschi M.

J Clin Lipidol. 2012 May-Jun;6(3):244-50. doi: 10.1016/j.jacl.2012.01.006. Epub 2012 Jan 28.

3.

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.

Contacos C, Sullivan DR, Rye KA, Funke H, Assmann G.

J Lipid Res. 1996 Jan;37(1):35-44.

4.

Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.

Simonelli S, Tinti C, Salvini L, Tinti L, Ossoli A, Vitali C, Sousa V, Orsini G, Nolli ML, Franceschini G, Calabresi L.

Biologicals. 2013 Nov;41(6):446-9. doi: 10.1016/j.biologicals.2013.09.007. Epub 2013 Oct 18.

PMID:
24140107
5.

A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy.

Dimick SM, Sallee B, Asztalos BF, Pritchard PH, Frohlich J, Schaefer EJ.

J Clin Lipidol. 2014 Mar-Apr;8(2):223-30. doi: 10.1016/j.jacl.2013.11.005. Epub 2013 Dec 11.

PMID:
24636183
6.

Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans.

Calabresi L, Baldassarre D, Castelnuovo S, Conca P, Bocchi L, Candini C, Frigerio B, Amato M, Sirtori CR, Alessandrini P, Arca M, Boscutti G, Cattin L, Gesualdo L, Sampietro T, Vaudo G, Veglia F, Calandra S, Franceschini G.

Circulation. 2009 Aug 18;120(7):628-35. doi: 10.1161/CIRCULATIONAHA.108.818143.

7.

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. Epub 2005 Oct 10.

PMID:
16216249
8.

[LCAT (lecithin:cholesterol acyltransferase)].

Kinoshita M, Teramoto T.

Rinsho Byori. 2001 Nov;Suppl 116:125-30. Review. Japanese.

PMID:
11797372
9.

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.

PMID:
9180249
10.

Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency.

Kuroda M, Holleboom AG, Stroes ES, Asada S, Aoyagi Y, Kamata K, Yamashita S, Ishibashi S, Saito Y, Bujo H.

Arterioscler Thromb Vasc Biol. 2014 Aug;34(8):1756-62. doi: 10.1161/ATVBAHA.114.303420. Epub 2014 May 29.

11.
12.

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 Jr.

J Lipid Res. 1993 Jan;34(1):49-58.

13.

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.

PMID:
12957688
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. doi: 10.1016/j.atherosclerosis.2009.05.014. Epub 2009 May 21.

PMID:
19515369
15.

A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.

Winder AF, Owen JS, Pritchard PH, Lloyd-Jones D, Vallance DT, White P, Wray R.

J Clin Pathol. 1999 Mar;52(3):228-30.

16.

In vitro expression of natural mutants of human lecithin:cholesterol acyltransferase.

Qu SJ, Fan HZ, Blanco-Vaca F, Pownall HJ.

J Lipid Res. 1995 May;36(5):967-74.

18.

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 Jr.

J Clin Invest. 1993 Jul;92(1):479-85.

20.

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