메뉴 건너뛰기




Volumn 131 C, Issue 1, 2004, Pages 75-81

Genetics of pigmentary disorders

Author keywords

Albinism; Chediak Higashi syndrome; Dyschromatosis; Griscelli syndrome; Hermansky Pudlak syndrome; Piebaldism; Waardenburg syndrome

Indexed keywords

CELL MIGRATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MELANOCYTE; MELANOGENESIS; MELANOSOME; MOLECULAR GENETICS; NEURAL CREST; PIGMENT DISORDER; PRIORITY JOURNAL; REVIEW; SKIN CELL; WAARDENBURG SYNDROME;

EID: 7444247798     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30036     Document Type: Review
Times cited : (128)

References (37)
  • 2
    • 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. 1992. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 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
  • 3
    • 0025895866 scopus 로고
    • Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: A single-center study of 22 cases
    • Blanche S, Caniglia M, Girault D, Landman J, Griscelli C, Fischer A. 1991. Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: A single-center study of 22 cases. Blood 78:51-54.
    • (1991) Blood , vol.78 , pp. 51-54
    • Blanche, S.1    Caniglia, M.2    Girault, D.3    Landman, J.4    Griscelli, C.5    Fischer, A.6
  • 4
    • 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'
    • Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Strum 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    Strum, R.A.8    Hearing, V.J.9    King, R.A.10    Nordlund, J.J.11
  • 6
    • 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. 1999. Altered trafficking of lysosomal protein in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor. Mol Cell 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
  • 7
    • 0025836661 scopus 로고
    • Deletion of the c-kit protooncogene in the human developmental defect piebald trait
    • Fleischman RA, Saltman DL, Stastny V, Zneimer S. 1991. Deletion of the c-kit protooncogene in the human developmental defect piebald trait. Proc Natl Acad Sci USA 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
  • 8
    • 0025940323 scopus 로고
    • Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
    • Giebel LB, Spritz RA. 1991. Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Proc Natl Acad Sci USA 88:8696-8699.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8696-8699
    • Giebel, L.B.1    Spritz, R.A.2
  • 10
    • 0025808737 scopus 로고
    • A tyrosinase gene missense in temperature-sensitive type 1 oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse
    • Giebel LB, Tripathi RK, King RA, Spritz RA. 1991b. A tyrosinase gene missense in temperature-sensitive type 1 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
  • 11
    • 18744385809 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
    • Huizing M, Boissy RE, Gahl WA. 2002. Hermansky-Pudlak syndrome: Vesicle formation from yeast to man. Pigment Cell Res 15:405-419.
    • (2002) Pigment Cell Res , vol.15 , pp. 405-419
    • Huizing, M.1    Boissy, R.E.2    Gahl, W.A.3
  • 14
    • 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. 1995. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 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
  • 16
    • 0030828856 scopus 로고    scopus 로고
    • Rufous oculocutaneous albinism in southern Africa Blacks is caused by mutations in the TYRP1 gene
    • Manga P, Kromberg JGR, Box NF, Sturm RA, Jenkins T, Ramsay M. 1997. Rufous oculocutaneous albinism in southern Africa 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.R.2    Box, N.F.3    Sturm, R.A.4    Jenkins, T.5    Ramsay, M.6
  • 18
    • 0034806070 scopus 로고    scopus 로고
    • EDNRB/EDN3 and Hirschsprung disease type II
    • Mccallion AS, Chakravarti A. 2001. EDNRB/EDN3 and Hirschsprung disease type II. Pigment Cell Res 14:161-169.
    • (2001) Pigment Cell Res , vol.14 , pp. 161-169
    • Mccallion, A.S.1    Chakravarti, A.2
  • 19
    • 0042888576 scopus 로고    scopus 로고
    • Mutation of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis synmmetrica hereditaria
    • Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y. 2003. Mutation of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis synmmetrica hereditaria. Am J Hum Genet 73:693-699.
    • (2003) Am J Hum Genet , vol.73 , pp. 693-699
    • Miyamura, Y.1    Suzuki, T.2    Kono, M.3    Inagaki, K.4    Ito, S.5    Suzuki, N.6    Tomita, Y.7
  • 24
    • 0032913013 scopus 로고    scopus 로고
    • Molecular basis of albinism: Mutations and polymorphisms of pigmentation gene associated with albinism
    • Oetting WS, King RA. 1999. Molecular basis of albinism: Mutations and polymorphisms of pigmentation gene associated with albinism. Hum Mutat 13:99-115.
    • (1999) Hum Mutat , vol.13 , pp. 99-115
    • Oetting, W.S.1    King, R.A.2
  • 25
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome: A disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, Frenk E, Tamura N, Spritz RA. 1996. Positional cloning of a gene for Hermansky-Pudlak syndrome: A disorder of cytoplasmic organelles. Nat Genet 14:300-306.
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3    Feng, G.H.4    Ho, L.5    Mao, J.6    Frenk, E.7    Tamura, N.8    Spritz, R.A.9
  • 30
    • 0032868109 scopus 로고    scopus 로고
    • A Cascade of genes related to Waardenburg syndrome
    • Tachibana M. 1999. A Cascade of genes related to Waardenburg syndrome. J Invest Dermatol 4:126-129.
    • (1999) J Invest Dermatol , vol.4 , pp. 126-129
    • Tachibana, M.1
  • 32
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. 1992. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636.
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3    Harris, R.4    Balling, R.5    Gruss, P.6    Strachan, T.7
  • 33
    • 0027943189 scopus 로고
    • Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
    • Tassabehji M, Newton VE, Read AP. 1994. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 8:251-255.
    • (1994) Nat Genet , vol.8 , pp. 251-255
    • Tassabehji, M.1    Newton, V.E.2    Read, A.P.3
  • 34
  • 35
    • 33646216446 scopus 로고    scopus 로고
    • AIM-1 gene, OCA4, is one of major loci for Japanese oculocutaneous albinisms
    • Abstract 1161
    • Tomita Y, Suzuki T, Inagaki K, Miyamura Y, Shimizu H. 2003. AIM-1 gene, OCA4, is one of major loci for Japanese oculocutaneous albinisms. J Invest Dermatol 121:Abstract 1161.
    • (2003) J Invest Dermatol , vol.121
    • Tomita, Y.1    Suzuki, T.2    Inagaki, K.3    Miyamura, Y.4    Shimizu, H.5
  • 36
    • 0034787514 scopus 로고    scopus 로고
    • The Dilute locus and Griscelli syndrome: Gateways towards a better understanding of melanosome transport
    • Westbroek W, Lambert J, Naeyaert JM. 2001. The Dilute locus and Griscelli syndrome: Gateways towards a better understanding of melanosome transport. Pigment Cell Res 14:320-327.
    • (2001) Pigment Cell Res , vol.14 , pp. 320-327
    • Westbroek, W.1    Lambert, J.2    Naeyaert, J.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.