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Volumn 292, Issue 6, 2000, Pages 301-305

Electron microscopic DOPA reaction test for oculocutaneous albinism

Author keywords

Albino; Gene analysis; Mutation; OCA; Tyrosinase

Indexed keywords

DOPA; MONOPHENOL MONOOXYGENASE;

EID: 0034121075     PISSN: 03403696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004030000133     Document Type: Article
Times cited : (5)

References (29)
  • 1
    • 0028099849 scopus 로고
    • Molecular basis of oculocutaneous albinism
    • 1. Oetting WS, King RA (1994) Molecular basis of oculocutaneous albinism. J Invest Dermatol 103: 131S-136S
    • (1994) J Invest Dermatol , vol.103
    • Oetting, W.S.1    King, R.A.2
  • 2
    • 0017296762 scopus 로고
    • Hairbulb tyrosinase activity in oculocutaneous albinism
    • 2. King R, Witcop C (1976) Hairbulb tyrosinase activity in oculocutaneous albinism. Nature 263: 69-71
    • (1976) Nature , vol.263 , pp. 69-71
    • King, R.1    Witcop, C.2
  • 3
    • 0025808737 scopus 로고
    • A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse
    • 3. Giebel LB, Tripathi RK, King RA, Spritz RA (1991) A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest 87: 1119-1122
    • (1991) J Clin Invest , vol.87 , pp. 1119-1122
    • Giebel, L.B.1    Tripathi, R.K.2    King, R.A.3    Spritz, R.A.4
  • 5
    • 0025851039 scopus 로고
    • Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism
    • 5. King RA, Mentink MM, Oetting WS (1991) Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 8: 19-29
    • (1991) Mol Biol Med , vol.8 , pp. 19-29
    • King, R.A.1    Mentink, M.M.2    Oetting, W.S.3
  • 6
    • 0030297582 scopus 로고    scopus 로고
    • R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism
    • 6. Matsunaga J, Dakeishi M, Shimizu H, Tomita Y (1996) R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. J Dermatol Sci 13: 134-139
    • (1996) J Dermatol Sci , vol.13 , pp. 134-139
    • Matsunaga, J.1    Dakeishi, M.2    Shimizu, H.3    Tomita, Y.4
  • 7
    • 0024051807 scopus 로고
    • Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7
    • 7. Barton DE, Kwon BS, Francke U (1988) Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7. Genomics 3: 17-24
    • (1988) Genomics , vol.3 , pp. 17-24
    • Barton, D.E.1    Kwon, B.S.2    Francke, U.3
  • 8
    • 0026686945 scopus 로고
    • The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
    • 8. Gardner J, Nakatsu Y, Gondo Y, Lee S, Lyon M, King R, Brilliant M (1992) The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257: 1121-1124
    • (1992) Science , vol.257 , pp. 1121-1124
    • Gardner, J.1    Nakatsu, Y.2    Gondo, Y.3    Lee, S.4    Lyon, M.5    King, R.6    Brilliant, M.7
  • 13
    • 0027228259 scopus 로고
    • Molecular genetics of oculocutaneous albinism
    • 13. Spritz RA (1993) Molecular genetics of oculocutaneous albinism. Semin Dermatol 12: 167-172
    • (1993) Semin Dermatol , vol.12 , pp. 167-172
    • Spritz, R.A.1
  • 14
    • 0029886028 scopus 로고    scopus 로고
    • Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3"
    • 14. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ (1996) Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3". Am J Hum Genet 58: 1145-1156
    • (1996) Am J Hum Genet , vol.58 , pp. 1145-1156
    • Boissy, R.E.1    Zhao, H.2    Oetting, W.S.3    Austin, L.M.4    Wildenberg, S.C.5    Boissy, Y.L.6    Zhao, Y.7    Sturm, R.A.8    Hearing, V.J.9    King, R.A.10    Nordlund, J.J.11
  • 15
    • 4243274789 scopus 로고
    • Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids
    • 15. Manga P, Ramsay M, Kromberg J, Jenkins T (1995) Brown oculocutaneous albinism is allelic to tyrosinase-positive oculocutaneous albinism in southern African Negroids. Am J Hum Genet 55: A194
    • (1995) Am J Hum Genet , vol.55
    • Manga, P.1    Ramsay, M.2    Kromberg, J.3    Jenkins, T.4
  • 16
    • 0030828856 scopus 로고    scopus 로고
    • Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
    • 16. Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (1997) Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet 61: 1095-1101
    • (1997) Am J Hum Genet , vol.61 , pp. 1095-1101
    • Manga, P.1    Kromberg, J.G.2    Box, N.F.3    Sturm, R.A.4    Jenkins, T.5    Ramsay, M.6
  • 17
    • 0028022094 scopus 로고
    • Molecular genetics of oculocutaneous albinism
    • 17. Spritz RA (1994) Molecular genetics of oculocutaneous albinism. Hum Mol Genet 1469-1475
    • (1994) Hum Mol Genet , pp. 1469-1475
    • Spritz, R.A.1
  • 18
    • 0026437374 scopus 로고
    • Do pigmented naevi in albinism provide evidence of tyrosinase positivity?
    • 18. Akiyama M, Shimizu H, Sugiura M, Nishikawa T (1992) Do pigmented naevi in albinism provide evidence of tyrosinase positivity? Br J Dermatol 127: 649-653
    • (1992) Br J Dermatol , vol.127 , pp. 649-653
    • Akiyama, M.1    Shimizu, H.2    Sugiura, M.3    Nishikawa, T.4
  • 20
    • 0028451590 scopus 로고
    • Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic DOPA reaction test of fetal skin
    • 20. Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T (1994) Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic DOPA reaction test of fetal skin. Prenat Diagn 14: 442-450
    • (1994) Prenat Diagn , vol.14 , pp. 442-450
    • Shimizu, H.1    Ishiko, A.2    Kikuchi, A.3    Akiyama, M.4    Suzumori, K.5    Nishikawa, T.6
  • 21
    • 0025008433 scopus 로고
    • Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59
    • 21. Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S (1990) Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. J Biol Chem 265: 17792-17797
    • (1990) J Biol Chem , vol.265 , pp. 17792-17797
    • Takeda, A.1    Tomita, Y.2    Matsunaga, J.3    Tagami, H.4    Shibahara, S.5
  • 22
    • 0032174680 scopus 로고    scopus 로고
    • Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients
    • 22. Tomita Y, Miyamura Y (1998) Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. Nagoya J Med Sci 61: 97-102
    • (1998) Nagoya J Med Sci , vol.61 , pp. 97-102
    • Tomita, Y.1    Miyamura, Y.2
  • 24
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments
    • 24. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments. Proc Natl Acad Sci U S A 90: 10325-10329
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 25
  • 26
    • 0027436609 scopus 로고
    • Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)
    • 26. Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA (1993) Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 53: 1173-1179
    • (1993) Am J Hum Genet , vol.53 , pp. 1173-1179
    • Tripathi, R.K.1    Bundey, S.2    Musarella, M.A.3    Droetto, S.4    Strunk, K.M.5    Holmes, S.A.6    Spritz, R.A.7
  • 27
    • 0028331890 scopus 로고
    • Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel
    • 27. Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA (1994) Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 54: 586-594
    • (1994) Am J Hum Genet , vol.54 , pp. 586-594
    • Gershoni-Baruch, R.1    Rosenmann, A.2    Droetto, S.3    Holmes, S.4    Tripathi, R.K.5    Spritz, R.A.6
  • 28
    • 0027478888 scopus 로고
    • A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico
    • 28. Oetting WS, Witkop CJ Jr, Brown SA, Colomer R, Fryer JP, Bloom KE, King RA (1993) A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 52: 17-23
    • (1993) Am J Hum Genet , vol.52 , pp. 17-23
    • Oetting, W.S.1    Witkop C.J., Jr.2    Brown, S.A.3    Colomer, R.4    Fryer, J.P.5    Bloom, K.E.6    King, R.A.7
  • 29
    • 0030093659 scopus 로고    scopus 로고
    • Prenatal diagnosis of inherited skin diseases
    • 29. Shimizu H (1996) Prenatal diagnosis of inherited skin diseases. Keio J Med 45: 28-36
    • (1996) Keio J Med , vol.45 , pp. 28-36
    • Shimizu, H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.