메뉴 건너뛰기




Volumn 13, Issue SUPPL. 8, 2000, Pages 130-134

Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan

Author keywords

Albinism; Dyschromatosis symmetrica hereditaria; Tyrosinase; Waardenburg syndrome

Indexed keywords

CARRIER PROTEIN; MEMBRANE PROTEIN; MONOPHENOL MONOOXYGENASE; OCA2 PROTEIN, HUMAN; STEM CELL FACTOR RECEPTOR;

EID: 0034565170     PISSN: 08935785     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0749.13.s8.23.x     Document Type: Article
Times cited : (35)

References (30)
  • 2
    • 0025940323 scopus 로고
    • Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
    • Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Proc Natl Acad Sci USA 1991;88:8696-8699
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8696-8699
    • Giebel, L.B.1    Spritz, R.A.2
  • 3
    • 0025836661 scopus 로고
    • Deletion of the c-kit proto-oncogene in the human developmental defect piebald trait
    • Fleischman RA, Saltman DL, Stastny V, Zneimer S. Deletion of the c-kit proto-oncogene in the human developmental defect piebald trait. Proc Natl Acad Sci USA 1991;88:10885-10889
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10885-10889
    • Fleischman, R.A.1    Saltman, D.L.2    Stastny, V.3    Zneimer, S.4
  • 4
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehjt M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635-637
    • (1992) Nature , vol.355 , pp. 635-637
    • Tassabehjt, M.1    Read, A.P.2    Newton, V.E.3    Harris, R.4    Balling, R.5    Gruss, P.6    Strachan, T.7
  • 5
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 1992;355:637-638
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.T.1    Hoth, C.F.2    Amos, J.A.3    Da-Silva, E.O.4    Milunsky, A.5
  • 6
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Gen 1994;8:251-255
    • (1994) Nature Gen , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 9
    • 0032868109 scopus 로고    scopus 로고
    • A cascade of genes related to Waardenburg syndrome
    • Tachibana M. A cascade of genes related to Waardenburg syndrome. J Invest Dermatol 1999;4:126-129
    • (1999) J Invest Dermatol , vol.4 , pp. 126-129
    • Tachibana, M.1
  • 10
    • 0031905954 scopus 로고    scopus 로고
    • Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
    • Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nature Gen 1998;18:283-286
    • (1998) Nature Gen , vol.18 , pp. 283-286
    • Watanabe, A.1    Takeda, K.2    Ploplis, B.3    Tachibana, M.4
  • 12
    • 0033007616 scopus 로고    scopus 로고
    • Altered trafficking of lysosomal protein in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor
    • Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal protein in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor. Mol Cell 1999;3:11-21
    • (1999) Mol Cell , vol.3 , pp. 11-21
    • Dell'Angelica, E.C.1    Shotelersuk, V.2    Aguilar, R.C.3    Gahl, W.A.4    Bonifacino, J.S.5
  • 17
    • 0025906751 scopus 로고
    • Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism
    • King RA, Townsend D, Oetting W. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest 1991;87:1046-1053
    • (1991) J Clin Invest , vol.87 , pp. 1046-1053
    • King, R.A.1    Townsend, D.2    Oetting, W.3
  • 18
    • 0025808737 scopus 로고
    • Temperature-sensitive tyrosinase in human albinism: A human homologue to the Siamese cat and the Himalayan mouse
    • Giebel LB, Tripathi RK, King RA, Spritz RA. Temperature-sensitive tyrosinase in human albinism: a human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest 1991;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
  • 19
    • 0028942723 scopus 로고
    • Organization and sequence of the human P gene and identification of a new family of transport proteins
    • Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz RA. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 1995;26:354-363
    • (1995) Genomics , vol.26 , pp. 354-363
    • Lee, S.-T.1    Nicholls, R.D.2    Jong, M.T.C.3    Fukai, K.4    Spritz, R.A.5
  • 21
    • 0033973776 scopus 로고    scopus 로고
    • Identification of P gene mutations on individuals with oculocutaneous albinism in sub-Saharan Africa
    • Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M. Identification of P gene mutations on individuals with oculocutaneous albinism in sub-Saharan Africa. Human Gen 2000;15:166-172
    • (2000) Human Gen , vol.15 , pp. 166-172
    • Kerr, R.1    Stevens, G.2    Manga, P.3    Salm, S.4    John, P.5    Haw, T.6    Ramsay, M.7
  • 23
    • 0030828856 scopus 로고    scopus 로고
    • Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene
    • Manga P, Kromberg JGR, Box NF, Sturm RA, Jenkins T, Ramsay M. Rufous oculocutaneous albinism in southern African blacks is caused by mutations in the TYRP1 gene. Am J Human Gen 1997;61:1095-1101
    • (1997) Am J Human Gen , vol.61 , pp. 1095-1101
    • Manga, P.1    Kromberg, J.G.R.2    Box, N.F.3    Sturm, R.A.4    Jenkins, T.5    Ramsay, M.6
  • 25
    • 0030297582 scopus 로고    scopus 로고
    • R278TER and P431L mutations of the tyrosinase gene exist with tyrosinase-necative oculocutaneous albinism
    • Matsunaga J, Dakeishi M, Shimizu H, Tomita Y. R278TER and P431L mutations of the tyrosinase gene exist with tyrosinase-necative oculocutaneous albinism. J Dermatol Sci 1996;13:134-139
    • (1996) J Dermatol Sci , vol.13 , pp. 134-139
    • Matsunaga, J.1    Dakeishi, M.2    Shimizu, H.3    Tomita, Y.4
  • 26
    • 0028825064 scopus 로고
    • Detection of point mutations in human tyrosinase gene by improved allele-specific amplification
    • Matsunaga J, Tomita Y, Tagami H. Detection of point mutations in human tyrosinase gene by improved allele-specific amplification. Exp Dermatol 1995;4:377-381
    • (1995) Exp Dermatol , vol.4 , pp. 377-381
    • Matsunaga, J.1    Tomita, Y.2    Tagami, H.3
  • 27
    • 0031930851 scopus 로고    scopus 로고
    • Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: Successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper
    • Matsunaga J, Dakeishi-Hara M, Miyamura Y, Nakamura E, Tanita M, Satomura K, Tomita Y. Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. Dermatology 1998;196:189-193
    • (1998) Dermatology , vol.196 , pp. 189-193
    • Matsunaga, J.1    Dakeishi-Hara, M.2    Miyamura, Y.3    Nakamura, E.4    Tanita, M.5    Satomura, K.6    Tomita, Y.7
  • 30
    • 0033992171 scopus 로고    scopus 로고
    • Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9
    • Kono M, Miyamura Y, Matsunaga J, Tomita Y. Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9. J Dermatol Sci 2000;22:88-95
    • (2000) J Dermatol Sci , vol.22 , pp. 88-95
    • Kono, M.1    Miyamura, Y.2    Matsunaga, J.3    Tomita, Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.