메뉴 건너뛰기




Volumn 37, Issue 2, 1996, Pages 219-225

Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; DNA; MELANIN; PROTEIN; RNA;

EID: 0030588142     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0545     Document Type: Article
Times cited : (26)

References (37)
  • 1
    • 0026000153 scopus 로고
    • Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency
    • Ballabio, A., Zollo, M., Carrozzo, R., Caiulo, A., Zuffardi, O., Cascioli, C. F., Viggiano, D., and Strisciuglio, P. (1991). Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am. J. Med. Genet. 41: 184-187.
    • (1991) Am. J. Med. Genet. , vol.41 , pp. 184-187
    • Ballabio, A.1    Zollo, M.2    Carrozzo, R.3    Caiulo, A.4    Zuffardi, O.5    Cascioli, C.F.6    Viggiano, D.7    Strisciuglio, P.8
  • 3
    • 0029059066 scopus 로고
    • Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
    • Bassi, M. T., et al. (1995). Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet. 10: 13-19.
    • (1995) Nature Genet. , vol.10 , pp. 13-19
    • Bassi, M.T.1
  • 4
    • 0024595683 scopus 로고
    • Cloned mouse melanocyte lines carrying the germline mutations albino and brown: Complementation in culture
    • Bennett, D. C., Cooper, P. J., Dexter, T. J., Devlin, L. M., Heasman, J., and Nester, B. (1989). Cloned mouse melanocyte lines carrying the germline mutations albino and brown: Complementation in culture. Development 105: 379-385.
    • (1989) Development , vol.105 , pp. 379-385
    • Bennett, D.C.1    Cooper, P.J.2    Dexter, T.J.3    Devlin, L.M.4    Heasman, J.5    Nester, B.6
  • 5
    • 0028098241 scopus 로고
    • New insights into the man-mouse comparative map of the X chromosome
    • Blair, H. J., Reed, V., Laval, S. H., and Boyd, Y. (1994). New insights into the man-mouse comparative map of the X chromosome. Genomics 19: 212-220.
    • (1994) Genomics , vol.19 , pp. 212-220
    • Blair, H.J.1    Reed, V.2    Laval, S.H.3    Boyd, Y.4
  • 7
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate - phenol - chloroform extraction
    • Chomczynski, P., and Sacchi, N. (1987). Single-step method of RNA isolation by acid guanidinium thiocyanate - phenol - chloroform extraction. Ann. Biochem. 162: 156-159.
    • (1987) Ann. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 8
    • 0018087645 scopus 로고
    • Visual system anomalies in human ocular albinos
    • Creel, D., O'Donnell, F. J., and Witkop, C. J. (1978). Visual system anomalies in human ocular albinos. Science 201: 931-933.
    • (1978) Science , vol.201 , pp. 931-933
    • Creel, D.1    O'Donnell, F.J.2    Witkop, C.J.3
  • 9
    • 0002286027 scopus 로고
    • Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote
    • Falls, H. F. (1951). Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am. J. Ophthalmol. 34: 41.
    • (1951) Am. J. Ophthalmol. , vol.34 , pp. 41
    • Falls, H.F.1
  • 10
    • 0028892091 scopus 로고
    • An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
    • Ferrero, G. B., et al. (1995). An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum. Mol. Genet. 4: 1821-1827.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1821-1827
    • Ferrero, G.B.1
  • 11
    • 0028924667 scopus 로고
    • A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
    • Franco, B., et al. (1995). A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 15-25.
    • (1995) Cell , vol.81 , pp. 15-25
    • Franco, B.1
  • 12
    • 0018894668 scopus 로고
    • Macromelanosomes in X-linked ocular albinism
    • Garner, A., and Jay, B. S. (1980). Macromelanosomes in X-linked ocular albinism. Histopathology 4: 243-254.
    • (1980) Histopathology , vol.4 , pp. 243-254
    • Garner, A.1    Jay, B.S.2
  • 15
    • 0028580515 scopus 로고
    • Molecular and developmental genetics of mouse coat color
    • Jackson, I. J. (1994). Molecular and developmental genetics of mouse coat color. Annu. Rev. Genet. 28: 189-217.
    • (1994) Annu. Rev. Genet. , vol.28 , pp. 189-217
    • Jackson, I.J.1
  • 16
    • 0015819648 scopus 로고
    • Ultrastructure of giant pigment granules (macromelanosomes) in the cutaneous pigmented macules of neurofibromatosis
    • Jimbow, K., Szabo, G., and Fitzpatrick, T. B. (1973). Ultrastructure of giant pigment granules (macromelanosomes) in the cutaneous pigmented macules of neurofibromatosis. J. Invest. Dermatol. 61: 300-309.
    • (1973) J. Invest. Dermatol. , vol.61 , pp. 300-309
    • Jimbow, K.1    Szabo, G.2    Fitzpatrick, T.B.3
  • 17
    • 0002580692 scopus 로고
    • Albinism
    • (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. V. Valle, Eds.), McGraw-Hill, New York
    • King, R. A., Hearing, V. J., Creel, D. J., and Oetting, W. S. (1995) Albinism. In "The Metabolic Basis of Inherited Disease" (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. V. Valle, Eds.), pp. 4353-4392. McGraw-Hill, New York.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 4353-4392
    • King, R.A.1    Hearing, V.J.2    Creel, D.J.3    Oetting, W.S.4
  • 18
    • 0029031626 scopus 로고
    • Modulation of melanogenic protein expression during the switch from eu-to pheomelanogenesis
    • Kobayashi, T., Vieira, W. D., Potterf, B., Sakai, C., Imokawa, G., and Hearing, V. J. (1995). Modulation of melanogenic protein expression during the switch from eu-to pheomelanogenesis. J. Cell Sci. 108: 2301-2309.
    • (1995) J. Cell Sci. , vol.108 , pp. 2301-2309
    • Kobayashi, T.1    Vieira, W.D.2    Potterf, B.3    Sakai, C.4    Imokawa, G.5    Hearing, V.J.6
  • 19
    • 0016156388 scopus 로고
    • The giant melanosome: A model of deranged melanosome morphogenesis
    • Konrad, K., Wolff, K., and Honigsmann, H. (1974). The giant melanosome: A model of deranged melanosome morphogenesis. J. Ultrastruct. Res. 48: 102-123.
    • (1974) J. Ultrastruct. Res. , vol.48 , pp. 102-123
    • Konrad, K.1    Wolff, K.2    Honigsmann, H.3
  • 20
    • 0024546509 scopus 로고
    • The scanning model for translation: An update
    • Kozak, M. (1989). The scanning model for translation: An update. J. Cell. Biol. 108: 229-241.
    • (1989) J. Cell. Biol. , vol.108 , pp. 229-241
    • Kozak, M.1
  • 21
    • 0029382806 scopus 로고
    • The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: In support of a unifying hypothesis
    • Lamoreux, M. L., Zhou, B.-K., Rosemblat, S., and Orlow, S. J. (1995). The pinkeyed-dilution protein and the eumelanin/pheomelanin switch: In support of a unifying hypothesis. Pigment Cell Res. 8: 263-270.
    • (1995) Pigment Cell Res. , vol.8 , pp. 263-270
    • Lamoreux, M.L.1    Zhou, B.-K.2    Rosemblat, S.3    Orlow, S.J.4
  • 22
    • 0027454015 scopus 로고
    • Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: Implications for the mapping of X linked ocular albinism
    • Meindl, A., et al. (1993). Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: Implications for the mapping of X linked ocular albinism. J. Med. Genet. 30: 838-842.
    • (1993) J. Med. Genet. , vol.30 , pp. 838-842
    • Meindl, A.1
  • 25
    • 0002631126 scopus 로고
    • On some hereditary diseases of the eye
    • Nettleship, E. (1909). On some hereditary diseases of the eye. Trans. Ophthalmol. Soc. UK 29: 59.
    • (1909) Trans. Ophthalmol. Soc. UK , vol.29 , pp. 59
    • Nettleship, E.1
  • 27
    • 0029081168 scopus 로고
    • Melanosomes are specialized members of the lysosomal lineage of organelles
    • Orlow, S. J. (1995). Melanosomes are specialized members of the lysosomal lineage of organelles. J. Invest. Dermatol. 105: 3-7.
    • (1995) J. Invest. Dermatol. , vol.105 , pp. 3-7
    • Orlow, S.J.1
  • 28
    • 0029111867 scopus 로고
    • A contravention of Ohno's law in mice
    • Palmer, S., Perry, J., and Ashworth, A. (1995). A contravention of Ohno's law in mice. Nature Genet. 10: 472-476.
    • (1995) Nature Genet. , vol.10 , pp. 472-476
    • Palmer, S.1    Perry, J.2    Ashworth, A.3
  • 32
    • 0028852091 scopus 로고
    • Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
    • Schiaffino, M. V., et al. (1995a). Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum. Mol. Genet. 4: 2319-2325.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2319-2325
    • Schiaffino, M.V.1
  • 33
    • 0028907718 scopus 로고
    • Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
    • Schiaffino, M. V., Bassi, M. T., Rugarli, E. I., Renieri, A., Galli, L., and Ballabio, A. (1995b). Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum. Mol. Genet. 4: 373-382.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 373-382
    • Schiaffino, M.V.1    Bassi, M.T.2    Rugarli, E.I.3    Renieri, A.4    Galli, L.5    Ballabio, A.6
  • 34
    • 0027963470 scopus 로고
    • Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes
    • Schnur, R. E., et al. (1994). Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes. Am. J. Hum. Genet. 55: 484-496.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 484-496
    • Schnur, R.E.1
  • 36
    • 0028610286 scopus 로고
    • Genetic disorders of pigmentation
    • (H. Harris and L. Hirschhorn, Eds.), Plenum, New York
    • Spritz, R. A., and Hearing, V. J. (1994) Genetic disorders of pigmentation. In "Advances in Human Genetics" (H. Harris and L. Hirschhorn, Eds.), Vol. 22, pp. 1-45, Plenum, New York.
    • (1994) Advances in Human Genetics , vol.22 , pp. 1-45
    • Spritz, R.A.1    Hearing, V.J.2
  • 37


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.