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MeSH Review

Albinism, Oculocutaneous

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Disease relevance of Albinism, Oculocutaneous


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Chemical compound and disease context of Albinism, Oculocutaneous


Biological context of Albinism, Oculocutaneous


Anatomical context of Albinism, Oculocutaneous


Gene context of Albinism, Oculocutaneous


Analytical, diagnostic and therapeutic context of Albinism, Oculocutaneous


  1. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J., Bernardini, I. N. Engl. J. Med. (1998) [Pubmed]
  2. Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. Bomalaski, J.S., Green, D., Carone, F. Arch. Intern. Med. (1983) [Pubmed]
  3. Periodic alternating nystagmus in humans with albinism. Abadi, R.V., Pascal, E. Invest. Ophthalmol. Vis. Sci. (1994) [Pubmed]
  4. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Huizing, M., Scher, C.D., Strovel, E., Fitzpatrick, D.L., Hartnell, L.M., Anikster, Y., Gahl, W.A. Pediatr. Res. (2002) [Pubmed]
  5. Hermansky-Pudlak syndrome in pregnancy: two case studies. Reiss, R.E., Copel, J.A., Roberts, N.S., Hobbins, J.C. Am. J. Obstet. Gynecol. (1985) [Pubmed]
  6. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Durham-Pierre, D., Gardner, J.M., Nakatsu, Y., King, R.A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M.H. Nat. Genet. (1994) [Pubmed]
  7. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. King, R.A., Townsend, D., Oetting, W., Summers, C.G., Olds, D.P., White, J.G., Spritz, R.A. J. Clin. Invest. (1991) [Pubmed]
  8. Mutation of melanosome protein RAB38 in chocolate mice. Loftus, S.K., Larson, D.M., Baxter, L.L., Antonellis, A., Chen, Y., Wu, X., Jiang, Y., Bittner, M., Hammer, J.A., Pavan, W.J. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  9. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Newton, J.M., Cohen-Barak, O., Hagiwara, N., Gardner, J.M., Davisson, M.T., King, R.A., Brilliant, M.H. Am. J. Hum. Genet. (2001) [Pubmed]
  10. 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, R.E., Zhao, H., Oetting, W.S., Austin, L.M., Wildenberg, S.C., Boissy, Y.L., Zhao, Y., Sturm, R.A., Hearing, V.J., King, R.A., Nordlund, J.J. Am. J. Hum. Genet. (1996) [Pubmed]
  11. Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. Takeda, A., Tomita, Y., Matsunaga, J., Tagami, H., Shibahara, S. J. Biol. Chem. (1990) [Pubmed]
  12. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. McCloy, M., Almeida, A., Daly, P., Vulliamy, T., Roberts, I.A., Dokal, I. Br. J. Haematol. (2001) [Pubmed]
  13. Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Lubin, J.R. Am. J. Ophthalmol. (1981) [Pubmed]
  14. Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6-methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. Saito, N., Morishima, T. Arch. Dermatol. Res. (1991) [Pubmed]
  15. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. Giebel, L.B., Tripathi, R.K., King, R.A., Spritz, R.A. J. Clin. Invest. (1991) [Pubmed]
  16. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Huizing, M., Anikster, Y., Fitzpatrick, D.L., Jeong, A.B., D'Souza, M., Rausche, M., Toro, J.R., Kaiser-Kupfer, M.I., White, J.G., Gahl, W.A. Am. J. Hum. Genet. (2001) [Pubmed]
  17. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Manga, P., Kromberg, J., Turner, A., Jenkins, T., Ramsay, M. Am. J. Hum. Genet. (2001) [Pubmed]
  18. Molecular analyses of a tyrosinase-negative albino family. Park, K.C., Chintamaneni, C.D., Halaban, R., Witkop, C.J., Kwon, B.S. Am. J. Hum. Genet. (1993) [Pubmed]
  19. Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. Castle, D., Kromberg, J., Kowalsky, R., Moosa, R., Gillman, N., Zwane, E., Fritz, V. J. Med. Genet. (1988) [Pubmed]
  20. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. Bailin, T., Oh, J., Feng, G.H., Fukai, K., Spritz, R.A. J. Invest. Dermatol. (1997) [Pubmed]
  21. Human tyrosinase related protein-1 (TRP-1) does not function as a DHICA oxidase activity in contrast to murine TRP-1. Boissy, R.E., Sakai, C., Zhao, H., Kobayashi, T., Hearing, V.J. Exp. Dermatol. (1998) [Pubmed]
  22. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Smith, J.W., Koshoffer, A., Morris, R.E., Boissy, R.E. Pigment Cell Res. (2005) [Pubmed]
  23. Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. Ellis, J.P., Gray, A., Richards, F. Journal of the Royal Society of Medicine. (1995) [Pubmed]
  24. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. Helip-Wooley, A., Westbroek, W., Dorward, H., Mommaas, M., Boissy, R.E., Gahl, W.A., Huizing, M. BMC Cell Biol. (2005) [Pubmed]
  25. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Manga, P., Kromberg, J.G., Box, N.F., Sturm, R.A., Jenkins, T., Ramsay, M. Am. J. Hum. Genet. (1997) [Pubmed]
  26. The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Baxter, L.L., Pavan, W.J. Mech. Dev. (2002) [Pubmed]
  27. Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population. Akey, J.M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M.D., Jin, L. Hum. Genet. (2001) [Pubmed]
  28. Expression and characterization of Rab38, a new member of the Rab small G protein family. Osanai, K., Takahashi, K., Nakamura, K., Takahashi, M., Ishigaki, M., Sakuma, T., Toga, H., Suzuki, T., Voelker, D.R. Biol. Chem. (2005) [Pubmed]
  29. Comparative genetics of albinism. Searle, A.G. Ophthalmic paediatrics and genetics. (1990) [Pubmed]
  30. Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Shimizu, H., Ishiko, A., Kikuchi, A., Akiyama, M., Suzumori, K., Nishikawa, T. Lancet (1992) [Pubmed]
  31. Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism. Nimmo, J.E., Hunter, J.A., Percy-Robb, I.W., Jay, B., Phillips, C.I., Taylor, W.O. Acta Derm. Venereol. (1985) [Pubmed]
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