X hits on this document





10 / 12

De Castro-Orós et al


23. Mabuchi H, Koizumi J, Shimizu M, Takeda R. Development of coronary heart disease in familial hypercholesterolemia. Circulation. 1989;79:225–232. 24. Miettinen TA, Gylling H. Mortality and cholesterol metabolism in familial hypercholesterolemia. Long-term follow-up of 96 patients. Arteriosclerosis. 1988;8:163–167. 25. WHO. Human Genetic Program. Familial Hypercholesterolemia, report of a WHO consultation. WHO/HGN/FH/CONS/98.7; Paris, 1997 Oct. 26. National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol Adults (Adult Treatment Panel III): final report. Circulation. 2002;106:3143–3221. 27. Gotto AM Jr. Management of dyslipidemia. Am J Med. 2002;112 Suppl 8A:10S–18S. 28. Kane JP, Mallow MJ, Ports TA, Phillips NR, Diehl JC, Havel RJ. Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens. JAMA. 1990; 264:3007–3012. 29. Tatami R, Inoue N, Itoh H, et al. Regression of coronary atheroscle- rosis by combined LDL-apheresis and lipid-lowering drug therapy in patients with familial hypercholesterolemia: a multicenter study. The LARS Investigators. Atherosclerosis. 1992;95:1–13. 30. Nishimura S, Sekiguchi M, Kano T, et al. Effects of intensive lipid lowering by low-density lipoprotein apheresis on regression of coronary atherosclerosis in patients with familial hypercholesterolemia: Japan Low-density Lipoprotein Apheresis Coronary Atherosclerosis Prospective Study (L-CAPS). Atherosclerosis. 1999;144:409–417. 31. Kroon AA, Aengevaeren WR, van der Werf T, et al. LDL-Apheresis Atherosclerosis Regression Study (LAARS). Effect of aggressive versus conventional lipid lowering treatment on coronary atherosclerosis. Circulation. 1996;93:1826–1835. 32. Thompson GR, Maher VM, Matthews S, et al. Familial Hypercho- lesterolaemia Regression Study: a randomised trial of low-density- lipoprotein apheresis. Lancet. 1995;345:811–816. 33. Matsuzaki M, Hiramori K, Imaizumi T, et al. Intravascular ultrasound evaluation of coronary plaque regression by low density lipoprotein- apheresis in familial hypercholesterolemia: the Low Density Lipoprotein-Apheresis Coronary Morphology and Reserve Trial (LACMART). J Am Coll Cardiol. 2002;40:220–227. 34. Pitsavos CE, Aggeli KI, Barbetseas JD, et al. Effects of pravastatin on thoracic aortic atherosclerosis in patients with heterozygous familial hypercholesterolemia. Am J Cardiol. 1998;82:1484–1488. 35. Smilde TJ, van Wissen S, Wollersheim H, Trip MD, Kastelein JJ, Stalenhoef AF. Effect of aggressive versus conventional lipid lower- ing on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet. 2001; 357:577–581. 36. Alonso R, Mata P, De Andres R, Villacastin BP, Martinez-Gonzalez J, Badimon L. Sustained long-term improvement of arterial endothelial function in heterozygous familial hypercholesterolemia patients treated with simvastatin. Atherosclerosis. 2001;157:423–429. 37. Aengevaeren WR, KroonAA, StalenhoefAF, Uijen GJ, van der Werf T. Low density lipoprotein apheresis improves regional myocardial per- fusion in patients with hypercholesterolemia and extensive coronary artery disease. LDL-Apheresis Atherosclerosis Regression Study (LAARS). J Am Coll Cardiol. 1996;28:1696–1704. 38. Zhang DW, Garuti R, Tang WJ, Cohen JC, Hobbs HH. Struc- tural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor. Proc Natl Acad Sci U S A. 2008;105:13045–13050. 39. Koivisto PV, Koivisto UM, Kovanen PT, Gylling H, Miettinen TA, Kontula K. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo. Arterioscler Thromb. 1993;13:1680–1688.

40. Gudnason V, Day IN, Humphries SE. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb. 1994;14:1717–1722. 41. Goldstein JL, Brown MS. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem. 1974;249:5153–5162. 42. Sudhof TC, Van der Westhuyzen DR, Goldstein JL, Brown MS, Russell DW. Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene. J Biol Chem. 1987:5;262:10773–10779. 43. Tolleshaug H, Goldstein JL, SchneiderWJ, Brown MS. Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia. Cell. 1982;30:715–724. 44. Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL recep- tor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet. 1990;24:133–170. 45. Schneider WJ, Beisiegel U, Goldstein JL, Brown MS. Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight. J Biol Chem. 1982;257:2664–2673. 46. Beisiegel U, Schneider WJ, Goldstein JL, Anderson RG, Brown MS. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia. J Biol Chem. 1981;256:11923–11931. 47. Dawson PA, Hofmann SL, van der Westhuyzen DR, Sudhof TC, Brown MS, Goldstein JL. Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1. J Biol Chem. 1988;263:3372–3379. 48. Smith JR, Osborne TF, Goldstein JL, Brown MS. Identification of nucleotides responsible for enhancer activity of sterol regulatory element in low density lipoprotein receptor gene. J Biol Chem. 1990;265: 2306–2310. 49. Jeon H, Meng W, Takagi J, Eck MJ, Springer TA, Blacklow SC. Impli- cations for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair. Nat Struct Biol. 2001;8: 499–504. 50. Mehta KD, Chang R, Underwook J, Wise J, Kumer A. Identification of a novel cis-acting element participating in maximal induction of the human LDL-receptor gene transcription in response to low cellular cholesterol levels. J Biol Chem. 1996;271:33616–33622. 51. Dedoussis GV, Genschel J, Bochow B, et al. Molecular characteriza- tion of familial hypercholesterolemia in German and Greek patients. Hum Mutat. 2004;23:285–286. 52. Smith AJ, Ahmed F, Nair D, et al. A functional mutation in the LDLR promoter (139C . G) in a patient with familial hypercholesterolemia. Eur J Hum Genet. 2007;1186–1189. 53. Mozas P, Castillo S, Tejedor D, et al. Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat. 2004;24:187. 54. Scholtz CL, Peeters AV, Hoogendijk CF, et al. Mutation 59ct in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolemia. Hum Mol Genet. 1999;8:2025–2030. 55. Francová H, Trbusek M, Zapletalová P, Kuhrová V. New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis. J Inherit Metab Dis. 2004;27:523–528. 56. Mozas P, Galetto R, Albajar M, Ros E, Pocoví M, Rodríguez-Rey JC. A mutation (49C . T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia. J Lipid Res. 2002;43:13–18. 57. Sun XM, Neuwirth C, Wade DP, Knight BL, Soutar AK. A mutation (T-45C) in the promoter region of the low-density lipoprotein (LDL)- receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH). Hum Mol Genet. 1995;4:2125–2129.


submit your manuscript | www.dovepress.com Dovepress

The Application of Clinical Genetics 2010:3

Document info
Document views53
Page views54
Page last viewedSat Jan 14 17:56:43 UTC 2017