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Volumn 37, Issue 1, 2006, Pages 102-108

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico

(21)  Robles Osorio, Ludivina a   Huerta Zepeda, Alejandra b   Ordóñez, Ma Luisa a   Canizales Quinteros, Samuel b   Díaz Villaseñor, Andrea b   Gutiérrez Aguilar, Ruth b   Riba, Laura b   Huertas Vázquez, Adriana b   Rodríguez Torres, Maribel b   Gómez Díaz, Rita A c   Salinas, Saul d   Ongay Larios, Laura b   Codiz Huerta, Guadalupe b   Mora Cabrera, Minerva b   Mehta, Roopa a   Gómez Pérez, Francisco J a   Rull, Juan A a   Rabès, Jean Pierre e   Tusié Luna, Ma Teresa b   Durán Vargas, Socorro b   more..


Author keywords

Apolipoprotein B; Familial hypercholesterolemia; LDL receptor; Mexican families; PCSK9

Indexed keywords

APOLIPOPROTEIN B; GENE PRODUCT; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; UNCLASSIFIED DRUG;

EID: 28444475924     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcmed.2005.04.018     Document Type: Article
Times cited : (30)

References (39)
  • 1
    • 0000600880 scopus 로고    scopus 로고
    • Familial hypercholesterolemia
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle McGraw-Hill New York
    • J.L. Goldstein, H.H. Hobbs, and M.S. Brown Familial hypercholesterolemia C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic Basis of Inherited Disease 2001 McGraw-Hill New York 2863 2913
    • (2001) The Metabolic Basis of Inherited Disease , pp. 2863-2913
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 2
    • 0041743167 scopus 로고    scopus 로고
    • Monogenic hypercholesterolemia: New insights in pathogenesis and treatment
    • D. Rader, J. Cohen, and H. Hobbs Monogenic hypercholesterolemia: new insights in pathogenesis and treatment J Clin Invest 11 2003 1795 1803
    • (2003) J Clin Invest , vol.11 , pp. 1795-1803
    • Rader, D.1    Cohen, J.2    Hobbs, H.3
  • 3
    • 0034908136 scopus 로고    scopus 로고
    • Hipercolesterolemia familiar
    • C.A. Aguilar-Salinas Hipercolesterolemia familiar Rev Invest Clin 53 2001 254 265
    • (2001) Rev Invest Clin , vol.53 , pp. 254-265
    • Aguilar-Salinas, C.A.1
  • 4
    • 0031706072 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100
    • P.S. Hansen Familial defective apolipoprotein B-100 Danish Med Bull 45 1998 369 382
    • (1998) Danish Med Bull , vol.45 , pp. 369-382
    • Hansen, P.S.1
  • 5
    • 0032890205 scopus 로고    scopus 로고
    • Mortality in treated heterozygous familial hypercholesterolemia: Implications for clinical management
    • Scientific Steering Committee on behalf of the Simon Broome Register Group Mortality in treated heterozygous familial hypercholesterolemia: implications for clinical management Atherosclerosis 142 1999 105 112
    • (1999) Atherosclerosis , vol.142 , pp. 105-112
  • 6
    • 0032556362 scopus 로고    scopus 로고
    • Molecular epidemiology of familial hypercholesterolaemia
    • J.C. Defesche, and J.J. Kastelein Molecular epidemiology of familial hypercholesterolaemia Lancet 352 1998 1664-1645
    • (1998) Lancet , vol.352
    • Defesche, J.C.1    Kastelein, J.J.2
  • 7
    • 0032574920 scopus 로고    scopus 로고
    • Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
    • A. Tybjaerg-Hansen, R. Steffensen, H. Meinertz, P. Schnohr, and B.G. Nordestgaard Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease N Engl J Med 338 1998 1577 1584
    • (1998) N Engl J Med , vol.338 , pp. 1577-1584
    • Tybjaerg-Hansen, A.1    Steffensen, R.2    Meinertz, H.3    Schnohr, P.4    Nordestgaard, B.G.5
  • 10
    • 0033767377 scopus 로고    scopus 로고
    • Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia
    • R. Thiart, M. Varret, C.J. Lintott, R.S. Scott, O. Loubser, L. du Plessis, J.N. de Villiers, C. Boileau, and M.J. Kotze Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia Mol Cell Probes 14 2000 299 304
    • (2000) Mol Cell Probes , vol.14 , pp. 299-304
    • Thiart, R.1    Varret, M.2    Lintott, C.J.3    Scott, R.S.4    Loubser, O.5    Du Plessis, L.6    De Villiers, J.N.7    Boileau, C.8    Kotze, M.J.9
  • 11
    • 8644235087 scopus 로고    scopus 로고
    • No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the receptor and apoB genes
    • D. Damgaard, J.M. Jensen, M.L. Larsen, V.R. Soerensen, H.K. Jensen, N. Gregersen, L.G. Jensen, and O. Faergeman No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in familial hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the receptor and apoB genes Atherosclerosis 177 2004 415 422
    • (2004) Atherosclerosis , vol.177 , pp. 415-422
    • Damgaard, D.1    Jensen, J.M.2    Larsen, M.L.3    Soerensen, V.R.4    Jensen, H.K.5    Gregersen, N.6    Jensen, L.G.7    Faergeman, O.8
  • 12
    • 28444499577 scopus 로고    scopus 로고
    • Accessible at www.ucl.ac.uk/fh. Accessed on September 30, 2004.
  • 13
    • 0002013221 scopus 로고    scopus 로고
    • Effect of atorvastatin on serum levels of lipoproteins in French Canadians with homozygous or compound heterozygous familial hypercholesterolemia
    • P. Couture, D. Gaudet, D. Brun, J. Bergeron, L. Cantin, D. Black, and C. Gagné Effect of atorvastatin on serum levels of lipoproteins in French Canadians with homozygous or compound heterozygous familial hypercholesterolemia Atherosclerosis 134 1997 54 59
    • (1997) Atherosclerosis , vol.134 , pp. 54-59
    • Couture, P.1    Gaudet, D.2    Brun, D.3    Bergeron, J.4    Cantin, L.5    Black, D.6    Gagné, C.7
  • 14
    • 0024446716 scopus 로고
    • Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
    • E. Leitersdorf, D.R. van der Westhuyzen, G.A. Coetzee, and H. Hobbs Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners J Clin Invest 84 1989 954 961
    • (1989) J Clin Invest , vol.84 , pp. 954-961
    • Leitersdorf, E.1    Van Der Westhuyzen, D.R.2    Coetzee, G.A.3    Hobbs, H.4
  • 15
    • 0026686162 scopus 로고
    • The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
    • U.M. Koivisto, H. Turtola, K. Aalto-Setala, B. Top, R. Frants, P.T. Kovanen, A.C. Syvanen, and K. Kontula The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland J Clin Invest 90 1992 219 228
    • (1992) J Clin Invest , vol.90 , pp. 219-228
    • Koivisto, U.M.1    Turtola, H.2    Aalto-Setala, K.3    Top, B.4    Frants, R.5    Kovanen, P.T.6    Syvanen, A.C.7    Kontula, K.8
  • 19
    • 2442670243 scopus 로고    scopus 로고
    • Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
    • T.P. Leren Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia Clin Genet 65 2004 419 422
    • (2004) Clin Genet , vol.65 , pp. 419-422
    • Leren, T.P.1
  • 22
  • 23
    • 0015348189 scopus 로고
    • Estimation of the concentration of lowdensity lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • W.T. Friedewald, R.I. Levy, and D.S. Fredrickson Estimation of the concentration of lowdensity lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge Clin Chem 18 1972 499 502
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 24
    • 0021980329 scopus 로고
    • Isolation of DNA from biological specimens without extraction with phenol
    • G.J. Buffone, and G. Darlinton Isolation of DNA from biological specimens without extraction with phenol Clin Chem 31 1985 164 165
    • (1985) Clin Chem , vol.31 , pp. 164-165
    • Buffone, G.J.1    Darlinton, G.2
  • 25
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene and familial hypercholesterolemia
    • H.H. Hobbs, M.S. Brown, and J.L. Goldstein Molecular genetics of the LDL receptor gene and familial hypercholesterolemia Hum Mut 1 1992 445 466
    • (1992) Hum Mut , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 26
    • 0029779010 scopus 로고    scopus 로고
    • High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing
    • H.K. Jensen, L.G. Jensen, P. Hansen, O. Faergeman, and N. Gregersen High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing Clin Chem 42 1996 1140 1146
    • (1996) Clin Chem , vol.42 , pp. 1140-1146
    • Jensen, H.K.1    Jensen, L.G.2    Hansen, P.3    Faergeman, O.4    Gregersen, N.5
  • 27
    • 0030821933 scopus 로고    scopus 로고
    • Detecting familial defective apolipoprotein B-100: Three molecular scanning methods compared
    • B.G. Henderson, P.R. Wenham, P. Ashby, and G. Blundell Detecting familial defective apolipoprotein B-100: three molecular scanning methods compared Clin Chem 43 1997 1630 1634
    • (1997) Clin Chem , vol.43 , pp. 1630-1634
    • Henderson, B.G.1    Wenham, P.R.2    Ashby, P.3    Blundell, G.4
  • 28
    • 0037459359 scopus 로고    scopus 로고
    • Locus on chromosome 6p linked to elevated HDL-C serum levels, and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia
    • S. Canizales, C.A. Aguilar Salinas, E. Reyes, L. Riba, M. Rodríguez, and M.T. Tusie Locus on chromosome 6p linked to elevated HDL-C serum levels, and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia Circ Res 92 2003 569 576
    • (2003) Circ Res , vol.92 , pp. 569-576
    • Canizales, S.1    Aguilar Salinas, C.A.2    Reyes, E.3    Riba, L.4    Rodríguez, M.5    Tusie, M.T.6
  • 30
    • 0030728925 scopus 로고    scopus 로고
    • Allele-sharing models: LOD scores and accurate linkage tests
    • A. Kong, and N.J. Cox Allele-sharing models: LOD scores and accurate linkage tests Am J Hum Genet 61 1997 1179 1188
    • (1997) Am J Hum Genet , vol.61 , pp. 1179-1188
    • Kong, A.1    Cox, N.J.2
  • 33
    • 0037541585 scopus 로고    scopus 로고
    • A review on the diagnosis, natural history and treatment of familial hypercholesterolemia
    • D. Marks, M. Thorogood, H.A. Neil, and S.E. Humphries A review on the diagnosis, natural history and treatment of familial hypercholesterolemia Atherosclerosis 168 2003 1 14
    • (2003) Atherosclerosis , vol.168 , pp. 1-14
    • Marks, D.1    Thorogood, M.2    Neil, H.A.3    Humphries, S.E.4
  • 34
    • 0032248337 scopus 로고    scopus 로고
    • Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief 135, online
    • A. Cenarro, H.K. Jensen, E. Casao, F. Civeira, J. Gonzalez-Bonillo, J.C. Rodriguez-Rey, N. Gregersen, and M. Pocovi Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief 135, online Hum Mutat 11 1998 413
    • (1998) Hum Mutat , vol.11 , pp. 413
    • Cenarro, A.1    Jensen, H.K.2    Casao, E.3    Civeira, F.4    Gonzalez-Bonillo, J.5    Rodriguez-Rey, J.C.6    Gregersen, N.7    Pocovi, M.8
  • 35
    • 0034184071 scopus 로고    scopus 로고
    • Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: Identification of 3 novel mutations in the LDL receptor gene
    • P. Mozas, A. Cenarro, F. Civeira, S. Castillo, E. Ros, and M. Pocovi Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene Hum Mutat 15 2000 483 484
    • (2000) Hum Mutat , vol.15 , pp. 483-484
    • Mozas, P.1    Cenarro, A.2    Civeira, F.3    Castillo, S.4    Ros, E.5    Pocovi, M.6
  • 36
    • 0040520535 scopus 로고    scopus 로고
    • Manifestaciones clínicas de la hipercolesterolemia familiar heterozigota en España. Estudio de 301 casos de la zona centro y norte
    • C. Garcés, F. Rodríguez, A. Serrano, J. González, F. Almagro, and J.A. Garrido Manifestaciones clínicas de la hipercolesterolemia familiar heterozigota en España. Estudio de 301 casos de la zona centro y norte Med Clin (Barc) 22 2000 50 51
    • (2000) Med Clin (Barc) , vol.22 , pp. 50-51
    • Garcés, C.1    Rodríguez, F.2    Serrano, A.3    González, J.4    Almagro, F.5    Garrido, J.A.6
  • 38
    • 0027035012 scopus 로고
    • Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphiom method
    • N. Loux, B. Saint-Jore, G. Collod, F. Dairou, P. Benlian, J. Truffert, B. Dastugue, P. Douste-Blazy, J.L. de Gennes, and C. Junien Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphiom method Hum Mutat 1 1992 325 332
    • (1992) Hum Mutat , vol.1 , pp. 325-332
    • Loux, N.1    Saint-Jore, B.2    Collod, G.3    Dairou, F.4    Benlian, P.5    Truffert, J.6    Dastugue, B.7    Douste-Blazy, P.8    De Gennes, J.L.9    Junien, C.10


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