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Volumn 66, Issue 1, 2000, Pages 157-166

A cholesterol-lowering gene maps to chromosome 13q

(23)  Knoblauch, Hans a   Müller Myhsok, Bertram b   Busjahn, Andreas a   Avi, Liat Ben c   Bähring, Sylvia a   Baron, Heike a   Heath, Simon C e   Uhlmann, Regina a   Faulhaber, Hans Dieter a   Shpitzen, Shoshi c   Aydin, Atakan a   Reshef, Ayeleth c   Rosenthal, Magda a   Eliav, Osnat c   Mühl, Astrid a   Lowe, Adam f   Schurr, Danny c   Harats, Dror g   Jeschke, Evi a   Friedlander, Yechiel d   more..


Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN;

EID: 0033925280     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302704     Document Type: Article
Times cited : (93)

References (34)
  • 1
    • 1642633542 scopus 로고    scopus 로고
    • Robustness and power of the maximum likelihood binomial (MLB) and the maximum likelihood score (MLS) methods in multipoint linkage analysis of affected sibship data
    • Abel L, Müller-Myhsok B (1998) Robustness and power of the maximum likelihood binomial (MLB) and the maximum likelihood score (MLS) methods in multipoint linkage analysis of affected sibship data. Am J Hum Genet 63:638-647
    • (1998) Am J Hum Genet , vol.63 , pp. 638-647
    • Abel, L.1    Müller-Myhsok, B.2
  • 2
    • 18244429610 scopus 로고    scopus 로고
    • Mutation and haplotype studies of familial mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, et al (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 64:949-962
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3    Centola, M.4    Pras, E.5    Chae, J.J.6    Oddoux, C.7
  • 3
    • 0033052468 scopus 로고    scopus 로고
    • Maximum-likelihood-binomial method for genetic model-free linkage analysis of quantitative traits in sibships
    • Alcais A, Abel L (1999) Maximum-Likelihood-Binomial method for genetic model-free linkage analysis of quantitative traits in sibships. Genet Epidemiol 17:102-117
    • (1999) Genet Epidemiol , vol.17 , pp. 102-117
    • Alcais, A.1    Abel, L.2
  • 4
    • 0031886107 scopus 로고    scopus 로고
    • Candidate-gene studies of the atherogenic lipoprotein phenotype: A sib-pair linkage analysis of DZ women twins
    • Austin MA, Talmud PJ, Luong L-A, Haddad L, Day INM, Newman B, Edwards LK, et al (1998) Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins. Am J Hum Genet 62: 406-419
    • (1998) Am J Hum Genet , vol.62 , pp. 406-419
    • Austin, M.A.1    Talmud, P.J.2    Luong, L.-A.3    Haddad, L.4    Day, I.N.M.5    Newman, B.6    Edwards, L.K.7
  • 5
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homoestasis
    • Brown MS, Goldstein JL (1986) A receptor-mediated pathway for cholesterol homoestasis. Science 232:34-47
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 9
    • 0022456630 scopus 로고
    • The J.D. mutation in familial hypercholesterolemia: Amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors
    • Davis CG, Lehrman MA, Russell DW, Anderson RG, Brown MS, Goldstein JL (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell 45: 15-24
    • (1986) Cell , vol.45 , pp. 15-24
    • Davis, C.G.1    Lehrman, M.A.2    Russell, D.W.3    Anderson, R.G.4    Brown, M.S.5    Goldstein, J.L.6
  • 10
    • 0029973999 scopus 로고    scopus 로고
    • Multivariate multipoint linkage analysis of quantitative trait loci
    • Eaves LJ, Neale MC, Maes H (1996) Multivariate multipoint linkage analysis of quantitative trait loci. Behav Genet 26: 519-525
    • (1996) Behav Genet , vol.26 , pp. 519-525
    • Eaves, L.J.1    Neale, M.C.2    Maes, H.3
  • 11
    • 0015348189 scopus 로고
    • Friedewald formula: Estimation of the concentration of low density lipoprotein cholesterol in plasma without the use of preparative ultracentrifugation
    • Friedewald WT, Levy RI, Fredrickson DS (1972) Friedewald formula: estimation of the concentration of low density lipoprotein cholesterol in plasma without the use of preparative ultracentrifugation. Clin Chem 18:499-502
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 12
    • 0029911351 scopus 로고    scopus 로고
    • An improved multipoint sibpair analysis of quantitative traits
    • Fulker DW, Cherny SS (1996) An improved multipoint sibpair analysis of quantitative traits. Behav Genet 26:527-532
    • (1996) Behav Genet , vol.26 , pp. 527-532
    • Fulker, D.W.1    Cherny, S.S.2
  • 14
    • 0030915254 scopus 로고    scopus 로고
    • Cholesterol and coronary heart disease
    • Grundy SM (1997) Cholesterol and coronary heart disease. Arch Intern Med 157:1177-1184
    • (1997) Arch Intern Med , vol.157 , pp. 1177-1184
    • Grundy, S.M.1
  • 15
    • 0030833349 scopus 로고    scopus 로고
    • Markov chain Monte Carlo segregation and linkage analysis for oligogenic models
    • Heath S (1997) Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet 61:748-760
    • (1997) Am J Hum Genet , vol.61 , pp. 748-760
    • Heath, S.1
  • 16
    • 0025257612 scopus 로고
    • Apo E genotyping: Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
    • Hixon JE, Vernier DT (1990) Apo E genotyping: restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31:545-548
    • (1990) J Lipid Res , vol.31 , pp. 545-548
    • Hixon, J.E.1    Vernier, D.T.2
  • 17
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 18
    • 0024348038 scopus 로고
    • Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
    • Hobbs HH, Leitersdorf E, Leffert CC, Cryer DR, Brown MS, Goldstein JL (1989) Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J Clin Invest 84:656-664
    • (1989) J Clin Invest , vol.84 , pp. 656-664
    • Hobbs, H.H.1    Leitersdorf, E.2    Leffert, C.C.3    Cryer, D.R.4    Brown, M.S.5    Goldstein, J.L.6
  • 19
    • 0001023903 scopus 로고
    • The inheritance of essential familial hypercholesterolemia
    • Khachadurian AK (1964) The inheritance of essential familial hypercholesterolemia. Am J Med 37:402-410
    • (1964) Am J Med , vol.37 , pp. 402-410
    • Khachadurian, A.K.1
  • 20
    • 0031443532 scopus 로고    scopus 로고
    • Heritability analysis of lipids and three gene loci in twins link the macrophage scavenger receptor to high-density lipoprotein cholesterol concentrations
    • Knoblauch H, Busjahn A, Münter S, Nagy Z, Faulhaber H-D, Schuster H, Luft FC (1997) Heritability analysis of lipids and three gene loci in twins link the macrophage scavenger receptor to high-density lipoprotein cholesterol concentrations. Arterioscler Thromb Vasc Biol 17:2054-2060
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 2054-2060
    • Knoblauch, H.1    Busjahn, A.2    Münter, S.3    Nagy, Z.4    Faulhaber, H.-D.5    Schuster, H.6    Luft, F.C.7
  • 21
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 22
    • 0029046177 scopus 로고
    • Complete multipoint sib-pair analysis of qualitative and quantitative traits
    • Kruglyak L, Lander ES (1995) Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 57:439-454
    • (1995) Am J Hum Genet , vol.57 , pp. 439-454
    • Kruglyak, L.1    Lander, E.S.2
  • 23
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander ES, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-246
    • (1995) Nat Genet , vol.11 , pp. 241-246
    • Lander, E.S.1    Kruglyak, L.2
  • 25
    • 0025991574 scopus 로고
    • Diverse effects of ethnicity on plasma lipoprotein (a) levels in heterozygous patients with familial hypercholesterolemia
    • Leitersdorf E, Friedlander Y, Bard JM, Fruchart JC, Eisenberg S, Stein JC (1991) Diverse effects of ethnicity on plasma lipoprotein (a) levels in heterozygous patients with familial hypercholesterolemia. J Lipid Res 32:1513-1519
    • (1991) J Lipid Res , vol.32 , pp. 1513-1519
    • Leitersdorf, E.1    Friedlander, Y.2    Bard, J.M.3    Fruchart, J.C.4    Eisenberg, S.5    Stein, J.C.6
  • 28
    • 0022270464 scopus 로고
    • I. Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes
    • Nora JJ, Lortscher RM, Spangler RD, Bilheimer DW (1985) I. Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes. Am J Med Genet 22:585-591
    • (1985) Am J Med Genet , vol.22 , pp. 585-591
    • Nora, J.J.1    Lortscher, R.M.2    Spangler, R.D.3    Bilheimer, D.W.4
  • 29
    • 0027731054 scopus 로고
    • Phenotypic expression of familial hypercholesterolemia in central and southern Tunisia
    • Slimane MN, Pousse H, Maatoug F, Hammami M, Ben-Farhat MH (1993) Phenotypic expression of familial hypercholesterolemia in central and southern Tunisia. Atherosclerosis 104:153-158
    • (1993) Atherosclerosis , vol.104 , pp. 153-158
    • Slimane, M.N.1    Pousse, H.2    Maatoug, F.3    Hammami, M.4    Ben-Farhat, M.H.5
  • 31
    • 0028177458 scopus 로고
    • Familial hypercholesterolemia in China: Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype
    • Sun XM, Patel DD, Webb JC, Knight BL, Fan LM, Cai HJ, Soutar AK (1994) Familial hypercholesterolemia in China: identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. Arterioscler Thromb 14:85-94
    • (1994) Arterioscler Thromb , vol.14 , pp. 85-94
    • Sun, X.M.1    Patel, D.D.2    Webb, J.C.3    Knight, B.L.4    Fan, L.M.5    Cai, H.J.6    Soutar, A.K.7
  • 32
    • 0030070163 scopus 로고    scopus 로고
    • Autosomal recessive nonsyndromic deafness locus maps to chromosome 21q22 in a large consanguineous kindred from Pakistan
    • Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myh-sok B, Mehdi SQ, Gal A (1996) Autosomal recessive nonsyndromic deafness locus maps to chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 5:165-168
    • (1996) Hum Mol Genet , vol.5 , pp. 165-168
    • Veske, A.1    Oehlmann, R.2    Younus, F.3    Mohyuddin, A.4    Müller-Myh-Sok, B.5    Mehdi, S.Q.6    Gal, A.7


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