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Volumn 20, Issue 1, 1998, Pages 96-98

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 17344368404     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1770     Document Type: Article
Times cited : (65)

References (25)
  • 1
    • 0017614773 scopus 로고
    • The Tromsö heart-study. High-density lipoprotein and coronary heart-disease: A prospective case-control study
    • Miller, N.E., Thelle, D.S., Forde, O.H. & Mjos, O.D. The Tromsö heart-study. High-density lipoprotein and coronary heart-disease: a prospective case-control study. Lancet 1, 965-968 (1977).
    • (1977) Lancet , vol.1 , pp. 965-968
    • Miller, N.E.1    Thelle, D.S.2    Forde, O.H.3    Mjos, O.D.4
  • 2
    • 0019520249 scopus 로고
    • Lipoproteins, cardiovascular disease, and death. the Framingham study
    • Gordon, T., Kannel, W.B., Castelli, W.P. & Dawber, T.R. Lipoproteins, cardiovascular disease, and death. The Framingham study. Arch. Intern. Med. 141, 1128-1131 (1981).
    • (1981) Arch. Intern. Med. , vol.141 , pp. 1128-1131
    • Gordon, T.1    Kannel, W.B.2    Castelli, W.P.3    Dawber, T.R.4
  • 3
    • 0343743905 scopus 로고
    • Panscientia Verlag, Hedingen, Zürich
    • Assmann, G. & Schulte, H. PROCAM-trial. (Panscientia Verlag, Hedingen, Zürich, 1986).
    • (1986) PROCAM-trial
    • Assmann, G.1    Schulte, H.2
  • 5
    • 0028307614 scopus 로고
    • Homozygous Tangier disease and cardiovascular disease
    • Serfaty-Lacrosniere, C. et al. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis 107, 85-98 (1994)
    • (1994) Atherosclerosis , vol.107 , pp. 85-98
    • Serfaty-Lacrosniere, C.1
  • 6
    • 0001071459 scopus 로고
    • Familial high density lipoprotein deficiency: Tangier Disease
    • eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D. McGraw-Hill, New York
    • Assmann, G., von-Eckardstein, A. & Brewer, H.B. Jr. Familial high density lipoprotein deficiency: Tangier Disease, in The Metabolic and Molecular Basis of Inherited Disease, (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2053-2072 (McGraw-Hill, New York, 1995).
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 2053-2072
    • Assmann, G.1    Von-Eckardstein, A.2    Brewer Jr., H.B.3
  • 7
    • 0344189687 scopus 로고
    • DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis
    • Karathanasis, S.K., Ferris, E. & Haddad, I.A. DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc. Natl Acad. Sci. USA 84, 7198-7202 (1987).
    • (1987) Proc. Natl Acad. Sci. USA , vol.84 , pp. 7198-7202
    • Karathanasis, S.K.1    Ferris, E.2    Haddad, I.A.3
  • 8
    • 0026101257 scopus 로고
    • A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: Cholesterol-acyltransferase deficiency, and corneal opacities
    • Funke, H. et al. A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. J. Clin. Invest. 87, 371-376 (1991).
    • (1991) J. Clin. Invest. , vol.87 , pp. 371-376
    • Funke, H.1
  • 9
    • 0025819206 scopus 로고
    • A molecular defect causing fish eye disease: An amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity
    • Funke, H. et al. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc. Natl Acad. Sci. USA 88, 4855-4859 (1991).
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 4855-4859
    • Funke, H.1
  • 10
    • 0027458576 scopus 로고
    • Genetic and phenotypic heterogeneity in familial lecithin: Cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
    • Funke, H. et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J. Clin. Invest. 91, 677-683 (1993).
    • (1993) J. Clin. Invest. , vol.91 , pp. 677-683
    • Funke, H.1
  • 11
    • 0027985082 scopus 로고
    • The high density lipoprotein- And apolipoprotein A-1-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects
    • Walter, M., Gerdes, U., Seedorf, U. & Assmann, G. The high density lipoprotein- and apolipoprotein A-1-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Biochem. Biophys. Res. Commun. 205, 850-856 (1994).
    • (1994) Biochem. Biophys. Res. Commun. , vol.205 , pp. 850-856
    • Walter, M.1    Gerdes, U.2    Seedorf, U.3    Assmann, G.4
  • 12
    • 0029082507 scopus 로고
    • Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease
    • Francis, G.A., Knopp, R.H. & Oram, J.F. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. J. Clin. Invest. 96, 78-87 (1995).
    • (1995) J. Clin. Invest. , vol.96 , pp. 78-87
    • Francis, G.A.1    Knopp, R.H.2    Oram, J.F.3
  • 13
    • 0029007219 scopus 로고
    • HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients
    • Regler, G., Trumbach, B., Klima, B., Lackner, K.J. & Schmitz, G. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 15, 683-690 (1995).
    • (1995) Arterioscler. Thromb. Vasc. Biol. , vol.15 , pp. 683-690
    • Regler, G.1    Trumbach, B.2    Klima, B.3    Lackner, K.J.4    Schmitz, G.5
  • 14
    • 0029852937 scopus 로고    scopus 로고
    • Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms
    • Walter, M. et al. Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. J. Clin. Invest. 98, 2315-2323 (1996).
    • (1996) J. Clin. Invest. , vol.98 , pp. 2315-2323
    • Walter, M.1
  • 15
    • 0017690994 scopus 로고
    • Characterization of high density lipoproteins in patients heterozygous for Tangier disease
    • Assmann, G., Simantke, O., Schaefer, H.-E. & Smootz, E. Characterization of high density lipoproteins in patients heterozygous for Tangier disease. J. Clin. Invest. 60, 1025-1035 (1977).
    • (1977) J. Clin. Invest. , vol.60 , pp. 1025-1035
    • Assmann, G.1    Simantke, O.2    Schaefer, H.-E.3    Smootz, E.4
  • 16
    • 0028069130 scopus 로고
    • Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
    • Puffenberger, E.G. et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum. Mol. Genet. 3, 1217-1225 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1217-1225
    • Puffenberger, E.G.1
  • 17
    • 0027942323 scopus 로고
    • Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
    • Houwen, R.H.J. et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genet. 8, 380-386 (1994).
    • (1994) Nature Genet. , vol.8 , pp. 380-386
    • Houwen, R.H.J.1
  • 18
    • 0028949919 scopus 로고
    • Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
    • Nikali, K. et al. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am. J. Hum. Genet. 56, 1088-1095 (1995).
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1088-1095
    • Nikali, K.1
  • 19
    • 0028877463 scopus 로고
    • Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
    • Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241-247 (1995).
    • (1995) Nature Genet. , vol.11 , pp. 241-247
    • Lander, E.1    Kruglyak, L.2
  • 20
    • 0025828430 scopus 로고
    • A note on multiple testing procedures in linkage analysis
    • Risch, N. A note on multiple testing procedures in linkage analysis. Am. J. Hum. Genet. 48, 1058-1064 (1995).
    • (1995) Am. J. Hum. Genet. , vol.48 , pp. 1058-1064
    • Risch, N.1
  • 21
    • 0027958381 scopus 로고
    • Another patient with an interstitial deletion of chromosome 9: Case report and a review of six cases with del(9)(q22q32)
    • Kroes, H.Y., Tuerlings, J.H.A.M., Hordijk, R., Folkers, N.R.P. & ten Kate, L.P. Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32). J. Med. Genet. 31, 156-158 (1994).
    • (1994) J. Med. Genet. , vol.31 , pp. 156-158
    • Kroes, H.Y.1    Tuerlings, J.H.A.M.2    Hordijk, R.3    Folkers, N.R.P.4    Ten Kate, L.P.5
  • 22
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154 (1996)
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1
  • 25
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • Lander, E.S. & Schork, N.J. Genetic dissection of complex traits. Science 265, 2037-2048 (1994).
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, E.S.1    Schork, N.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.