MeSH Review:
Piebaldism
- RTK mutations and human syndromeswhen good receptors turn bad. Robertson, S.C., Tynan, J.A., Donoghue, D.J. Trends Genet. (2000)
- SLUG in cancer development. Pérez-Mancera, P.A., González-Herrero, I., Pérez-Caro, M., Gutiérrez-Cianca, N., Flores, T., Gutiérrez-Adán, A., Pintado, B., Sánchez-Martín, M., Sánchez-García, I. Oncogene (2005)
- Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. Jimbow, K., Fitzpatrick, T.B., Szabo, G., Hori, Y. J. Invest. Dermatol. (1975)
- White mutants in mice shedding light on humans. Halaban, R., Moellmann, G. J. Invest. Dermatol. (1993)
- A mouse model for vitiligo. Lerner, A.B., Shiohara, T., Boissy, R.E., Jacobson, K.A., Lamoreux, M.L., Moellmann, G.E. J. Invest. Dermatol. (1986)
- Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene. Fleischman, R.A. J. Clin. Invest. (1992)
- Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Spritz, R.A., Giebel, L.B., Holmes, S.A. Am. J. Hum. Genet. (1992)
- Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Giebel, L.B., Spritz, R.A. Proc. Natl. Acad. Sci. U.S.A. (1991)
- Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Menasche, G., Feldmann, J., Houdusse, A., Desaymard, C., Fischer, A., Goud, B., de Saint Basile, G. Blood (2003)
- Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. Murakami, T., Hosomi, N., Oiso, N., Giovannucci-Uzielli, M.L., Aquaron, R., Mizoguchi, M., Kato, A., Ishii, M., Bitner-Glindzicz, M., Barnicoat, A., Wilson, L., Tsukamoto, K., Ueda, H., Mancini, A.J., Suzuki, T., Riley, J., Miertus, J., Camargo, M., Santoro-Zea, A., Atkin, J., Fukai, K. J. Invest. Dermatol. (2005)
- Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Spritz, R.A., Holmes, S.A., Ramesar, R., Greenberg, J., Curtis, D., Beighton, P. Am. J. Hum. Genet. (1992)
- Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism. Fleischman, R.A., Gallardo, T., Mi, X. J. Invest. Dermatol. (1996)
- Deletion of the KIT and PDGFRA genes in a patient with piebaldism. Spritz, R.A., Droetto, S., Fukushima, Y. Am. J. Med. Genet. (1992)
- The molecular genetics of albinism and piebaldism. Tomita, Y. Archives of dermatology. (1994)
- Ocular findings in the Hermansky-Pudlak syndrome. Izquierdo, N.J., Townsend, W., Hussels, I.E. Transactions of the American Ophthalmological Society. (1995)
- Genetics of pigmentary disorders. Tomita, Y., Suzuki, T. American journal of medical genetics. Part C, Seminars in medical genetics. (2004)
- Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. Tomita, Y., Miyamura, Y., Kono, M., Nakamura, R., Matsunaga, J. Pigment Cell Res. (2000)
- Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Shears, D., Conlon, H., Murakami, T., Fukai, K., Alles, R., Trembath, R., Bitner-Glindzicz, M. Clin. Genet. (2004)
- Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice. Rice, J., Doggett, B., Sweetser, D.A., Yanagisawa, H., Yanagisawa, M., Kapur, R.P. Dev. Dyn. (2000)
- Leucoderma treated by transplantation of a basal cell layer enriched suspension. Olsson, M.J., Juhlin, L. Br. J. Dermatol. (1998)