메뉴 건너뛰기




Volumn 5, Issue 10, 1996, Pages 1667-1672

The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; CHOLESTEROL ESTER; FATTY ACID; MICROSATELLITE DNA; PHOSPHOLIPID;

EID: 0029795076     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1667     Document Type: Article
Times cited : (61)

References (38)
  • 1
    • 0026529525 scopus 로고
    • Schnyder's Dystrophy of the cornea
    • Weiss, J.S. (1992) Schnyder's Dystrophy of the cornea. Cornea 11, 93-101.
    • (1992) Cornea , vol.11 , pp. 93-101
    • Weiss, J.S.1
  • 2
    • 0026689964 scopus 로고
    • Panstromal Schnyder's Corneal Dystrophy. Ultrastructural and histochemical studies
    • Weiss, J.S., Rodrigues, M.M., Kruth, H.S., Rajagopalan, S. and Rader, D.J. (1992) Panstromal Schnyder's Corneal Dystrophy. Ultrastructural and histochemical studies. Ophthalmology, 99, 1072-1081.
    • (1992) Ophthalmology , vol.99 , pp. 1072-1081
    • Weiss, J.S.1    Rodrigues, M.M.2    Kruth, H.S.3    Rajagopalan, S.4    Rader, D.J.5
  • 3
    • 0028242686 scopus 로고
    • Panstromal Schnyder's Corneal Dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition
    • McCarthy, M., Innis, S., Dubord, P. and White, V. (1994) Panstromal Schnyder's Corneal Dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition. Ophthalmology, 101, 895-901.
    • (1994) Ophthalmology , vol.101 , pp. 895-901
    • McCarthy, M.1    Innis, S.2    Dubord, P.3    White, V.4
  • 6
    • 0028332311 scopus 로고
    • Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q
    • Eiberg, H., Moller, H.U., Berendt, I. and Mohr, J. (1994) Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur. J. Hum. Genet., 2, 132-138.
    • (1994) Eur. J. Hum. Genet. , vol.2 , pp. 132-138
    • Eiberg, H.1    Moller, H.U.2    Berendt, I.3    Mohr, J.4
  • 8
    • 0026410035 scopus 로고
    • Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II
    • Gorevic, P.D., Munoz, P.C., Gorgone, G., Purcell, J.J. Jr., Rodrigues, M., Ghiso, J., Levy, E., et al. (1991) Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. N. Engl. J. Med., 325, 1780-1785.
    • (1991) N. Engl. J. Med. , vol.325 , pp. 1780-1785
    • Gorevic, P.D.1    Munoz, P.C.2    Gorgone, G.3    Purcell Jr., J.J.4    Rodrigues, M.5    Ghiso, J.6    Levy, E.7
  • 9
    • 0028920939 scopus 로고
    • Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis
    • Tahvanainen, E., Forsius, H., Karila, E., Ranta, S., Eerola, M., Weissenbach, J., Sistonen, P. et al. (1995) Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics, 26, 290-293.
    • (1995) Genomics , vol.26 , pp. 290-293
    • Tahvanainen, E.1    Forsius, H.2    Karila, E.3    Ranta, S.4    Eerola, M.5    Weissenbach, J.6    Sistonen, P.7
  • 11
    • 34447592509 scopus 로고
    • Uber parenchymatose entzungdung
    • Virchow, A.R. (1852) Uber parenchymatose entzungdung. Virchow's Arch. Path. Anat., 4, 261-375.
    • (1852) Virchow's Arch. Path. Anat. , vol.4 , pp. 261-375
    • Virchow, A.R.1
  • 12
    • 0021471627 scopus 로고
    • Corneal arcus and coronary heart disease mortality
    • Halfon, S.T., Hames, C.G. and Heyden, S. (1984) Corneal arcus and coronary heart disease mortality. Br. J. Ophthalmol., 68, 603-604.
    • (1984) Br. J. Ophthalmol. , vol.68 , pp. 603-604
    • Halfon, S.T.1    Hames, C.G.2    Heyden, S.3
  • 13
    • 0027418007 scopus 로고
    • Association of corneal arcus with ultrasonographically assessed arterial wall thickness and serum lipids
    • Rouhiainen, P., Salonen, R., Rouhiainen, H. and Salonen, J.T. (1993) Association of corneal arcus with ultrasonographically assessed arterial wall thickness and serum lipids. Cornea, 12, 142-145.
    • (1993) Cornea , vol.12 , pp. 142-145
    • Rouhiainen, P.1    Salonen, R.2    Rouhiainen, H.3    Salonen, J.T.4
  • 14
    • 0015341422 scopus 로고
    • Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia
    • Bron, A.J., Williams, H.P. and Carruthers, M.E. (1972) Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia. Br. J. Ophthalmol., 56, 383-399.
    • (1972) Br. J. Ophthalmol. , vol.56 , pp. 383-399
    • Bron, A.J.1    Williams, H.P.2    Carruthers, M.E.3
  • 17
    • 0142253545 scopus 로고
    • Cholesterol Synthesis, Transport and Excretion
    • Murray RK, Granner DK, Mayes PE, Rodwell VW (eds) Appleton & Lange, Conneticut
    • Mayes, P.E. (1993) Cholesterol Synthesis, Transport and Excretion. In: Murray RK, Granner DK, Mayes PE, Rodwell VW (eds) Harper's Biochemistry, 23rd ed. Appleton & Lange, Conneticut, pp. 266-278.
    • (1993) Harper's Biochemistry, 23rd Ed. , pp. 266-278
    • Mayes, P.E.1
  • 18
    • 0029046821 scopus 로고
    • The low down on lipoprotein lipases
    • Funke, H. and Assman, G. (1995) The low down on lipoprotein lipases. Nature Genet., 10, 6-7.
    • (1995) Nature Genet. , vol.10 , pp. 6-7
    • Funke, H.1    Assman, G.2
  • 19
    • 0029047717 scopus 로고
    • A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis
    • Reymer, P.W., Gagne, E., Groenemeyer, B.E., Zhang, H., Forsyth, I., Jansen, H., Seidell, J.C., et al. (1995) A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nature Genet., 10, 28-33.
    • (1995) Nature Genet. , vol.10 , pp. 28-33
    • Reymer, P.W.1    Gagne, E.2    Groenemeyer, B.E.3    Zhang, H.4    Forsyth, I.5    Jansen, H.6    Seidell, J.C.7
  • 21
    • 0025733101 scopus 로고
    • Cloning of the cDNA encoding human skeletal-muscle fatty-acid-binding protein, its peptide sequence and chromosomal localization
    • Peeters, R.A., Veerkamp, J.H., Geurts van Kessel, A., Kanda, T., Ono, T. (1991) Cloning of the cDNA encoding human skeletal-muscle fatty-acid-binding protein, its peptide sequence and chromosomal localization. Biochem. J., 276, 203-207.
    • (1991) Biochem. J. , vol.276 , pp. 203-207
    • Peeters, R.A.1    Veerkamp, J.H.2    Geurts Van Kessel, A.3    Kanda, T.4    Ono, T.5
  • 22
    • 0026319464 scopus 로고
    • Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS)
    • Yamauchi, M., Yamauchi, N., Phear, G., Spurr, N.K., Martinsson, T. Weith, A. and Meuth, M. (1991) Genomic organization and chromosomal localization of the human CTP synthetase gene (CTPS). Genomics, 11, 1088-1096.
    • (1991) Genomics , vol.11 , pp. 1088-1096
    • Yamauchi, M.1    Yamauchi, N.2    Phear, G.3    Spurr, N.K.4    Martinsson, T.5    Weith, A.6    Meuth, M.7
  • 23
    • 0028009606 scopus 로고
    • Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis
    • Vesa, J., Hellsten, E., Barnoski, B.L., Emanuel, B.S., Billheimer, J.T., Mead, S., Cowell, J.K., et al. (1994) Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis. Hum. Mol. Genet., 7, 341-346.
    • (1994) Hum. Mol. Genet. , vol.7 , pp. 341-346
    • Vesa, J.1    Hellsten, E.2    Barnoski, B.L.3    Emanuel, B.S.4    Billheimer, J.T.5    Mead, S.6    Cowell, J.K.7
  • 24
    • 0025887138 scopus 로고
    • The alpha-2(VIII) collagen gene: A novel member of the short chain collagen family located on the human chromosome 1
    • Muragaki, Y., Jacenko, O. Apte, S., Mattei, M.-G., Ninomiya, Y. and Olsen, B.R. (1991) The alpha-2(VIII) collagen gene: a novel member of the short chain collagen family located on the human chromosome 1. J. Biol. Chem. 266, 7721-7727.
    • (1991) J. Biol. Chem. , vol.266 , pp. 7721-7727
    • Muragaki, Y.1    Jacenko, O.2    Apte, S.3    Mattei, M.-G.4    Ninomiya, Y.5    Olsen, B.R.6
  • 25
    • 0022647588 scopus 로고
    • Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia
    • Kingsley, D.M., Krieger, M. and Holton, J.B. (1986) Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. N. Engl. J. Med., 314, 1257-1258.
    • (1986) N. Engl. J. Med. , vol.314 , pp. 1257-1258
    • Kingsley, D.M.1    Krieger, M.2    Holton, J.B.3
  • 27
    • 0026034240 scopus 로고
    • Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
    • Kang, S.S., Wong, P.W., Susmano, A., Sora, J., Norusis, M. and Ruggie, N. (1991) Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am. J. Hum. Genet., 48, 536-545.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 536-545
    • Kang, S.S.1    Wong, P.W.2    Susmano, A.3    Sora, J.4    Norusis, M.5    Ruggie, N.6
  • 28
    • 10144240753 scopus 로고    scopus 로고
    • Whitehead Institute/MIT Center for Genome Research Human Genomic Mapping Project Data Release 8 (September 1995)
    • Whitehead Institute/MIT Center for Genome Research Human Genomic Mapping Project Data Release 8 (September 1995).
  • 29
    • 0030003757 scopus 로고    scopus 로고
    • Schnyder's Crystalline Dystrophy Sine Crystals: Recommendation for a Revision of Nomenclature
    • Weiss, J.S. (1996) Schnyder's Crystalline Dystrophy Sine Crystals: Recommendation for a Revision of Nomenclature. Ophthalmology, 103, 465-473.
    • (1996) Ophthalmology , vol.103 , pp. 465-473
    • Weiss, J.S.1
  • 30
    • 0022553788 scopus 로고
    • A routine method for the establishment of permanent growing lymphoblastoid cell lines
    • Neitzel, H. (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet., 73, 320-326.
    • (1986) Hum. Genet. , vol.73 , pp. 320-326
    • Neitzel, H.1
  • 31
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
    • Weber, J.L. and May, P.E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet., 44, 388-396.
    • (1989) Am. J. Hum. Genet. , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 34
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37, 482-498.
    • (1985) Am. J. Hum. Genet. , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 36
    • 0000732266 scopus 로고
    • The estimation of map distances from recombinaton values
    • Kosambi, D.D. (1944) The estimation of map distances from recombinaton values. Ann. Eugenics, 12, 172-175.
    • (1944) Ann. Eugenics , vol.12 , pp. 172-175
    • Kosambi, D.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.