Gene Review:
PAX6 - paired box 6
Homo sapiens
Synonyms:
AN, AN2, Aniridia type II protein, D11S812E, FVH1, ...
Hirayama,
Kobayashi,
Fujino,
Kamachi,
Uchikawa,
Tanouchi,
Sekido,
Kondoh,
Grønskov,
Olsen,
Sand,
Pedersen,
Carlsen,
Bak Jylling,
Lyngbye,
Brøndum-Nielsen,
Rosenberg,
Gupta,
Orr,
Bulman,
De Becker,
Guernsey,
Neumann,
Nishi,
Sasahara,
Shono,
Saika,
Yamamoto,
Ohkawa,
Furuta,
Nakao,
Sasaki,
Nanjo,
Ploski,
Shamsher,
Radu,
Sisodiya,
Free,
Williamson,
Mitchell,
Willis,
Stevens,
Kendall,
Shorvon,
Hanson,
Moore,
van Heyningen,
Bamiou,
Musiek,
Sisodiya,
Free,
Davies,
Moore,
van Heyningen,
Luxon,
Azuma,
Yamaguchi,
Handa,
Tadokoro,
Asaka,
Kawase,
Yamada,
Crolla,
van Heyningen,
- Mutation in the PAX6 gene in twenty patients with aniridia. Chao, L.Y., Huff, V., Strong, L.C., Saunders, G.F. Hum. Mutat. (2000)
- The expression of PAX6, PTEN, vascular endothelial growth factor, and epidermal growth factor receptor in gliomas: relationship to tumor grade and survival. Zhou, Y.H., Tan, F., Hess, K.R., Yung, W.K. Clin. Cancer Res. (2003)
- Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Azuma, N., Yamaguchi, Y., Handa, H., Tadokoro, K., Asaka, A., Kawase, E., Yamada, M. Am. J. Hum. Genet. (2003)
- Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Mirzayans, F., Pearce, W.G., MacDonald, I.M., Walter, M.A. Am. J. Hum. Genet. (1995)
- Deregulated expression of PAX5 in medulloblastoma. Kozmik, Z., Sure, U., Rüedi, D., Busslinger, M., Aguzzi, A. Proc. Natl. Acad. Sci. U.S.A. (1995)
- Expression pattern of PAX3 and PAX6 genes during human embryogenesis. Terzić, J., Saraga-Babić, M. Int. J. Dev. Biol. (1999)
- Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. Gessler, M., Simola, K.O., Bruns, G.A. Science (1989)
- PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Sisodiya, S.M., Free, S.L., Williamson, K.A., Mitchell, T.N., Willis, C., Stevens, J.M., Kendall, B.E., Shorvon, S.D., Hanson, I.M., Moore, A.T., van Heyningen, V. Nat. Genet. (2001)
- Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. Stöber, G., Syagailo, Y.V., Okladnova, O., Jungkunz, G., Knapp, M., Beckmann, H., Lesch, K.P. Biol. Psychiatry (1999)
- PAX6 missense mutation in isolated foveal hypoplasia. Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M. Nat. Genet. (1996)
- Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V., Hastie, N.D. Cell (1996)
- A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia. Nishi, M., Sasahara, M., Shono, T., Saika, S., Yamamoto, Y., Ohkawa, K., Furuta, H., Nakao, T., Sasaki, H., Nanjo, K. Diabet. Med. (2005)
- Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24). Hirayama, T., Kobayashi, T., Fujino, O. Journal of Nippon Medical School = Nihon Ika Daigaku zasshi. (2005)
- A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. Gupta, S.K., Orr, A., Bulman, D., De Becker, I., Guernsey, D.L., Neumann, P.E. Can. J. Ophthalmol. (1999)
- Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Crolla, J.A., van Heyningen, V. Am. J. Hum. Genet. (2002)
- Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Bamiou, D.E., Musiek, F.E., Sisodiya, S.M., Free, S.L., Davies, R.A., Moore, A., van Heyningen, V., Luxon, L.M. Ann. Neurol. (2004)
- Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Singh, S., Chao, L.Y., Mishra, R., Davies, J., Saunders, G.F. Hum. Mol. Genet. (2001)
- Modulation of PAX6 homeodomain function by the paired domain. Singh, S., Stellrecht, C.M., Tang, H.K., Saunders, G.F. J. Biol. Chem. (2000)
- PAX6 mutations reviewed. Prosser, J., van Heyningen, V. Hum. Mutat. (1998)
- Effect of CTCF-binding motif on regulation of PAX6 transcription. Wu, D., Li, T., Lu, Z., Dai, W., Xu, M., Lu, L. Invest. Ophthalmol. Vis. Sci. (2006)
- Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13. Ploski, J.E., Shamsher, M.K., Radu, A. Mol. Cell. Biol. (2004)
- A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy. Lee, T.K., Hébert, M., MacDonald, I.M. Ophthalmic Genet. (2003)
- Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Kamachi, Y., Uchikawa, M., Tanouchi, A., Sekido, R., Kondoh, H. Genes Dev. (2001)
- A functional polymorphism in the promoter of UCP2 enhances obesity risk but reduces type 2 diabetes risk in obese middle-aged humans. Krempler, F., Esterbauer, H., Weitgasser, R., Ebenbichler, C., Patsch, J.R., Miller, K., Xie, M., Linnemayr, V., Oberkofler, H., Patsch, W. Diabetes (2002)
- Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1. Zheng, J.B., Zhou, Y.H., Maity, T., Liao, W.S., Saunders, G.F. Nucleic Acids Res. (2001)
- Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Grønskov, K., Olsen, J.H., Sand, A., Pedersen, W., Carlsen, N., Bak Jylling, A.M., Lyngbye, T., Brøndum-Nielsen, K., Rosenberg, T. Hum. Genet. (2001)
- Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. Wang, Y., Zhao, H., Zhang, X., Feng, H. J. Dent. Res. (2003)
- Transcription factors in disease. Engelkamp, D., van Heyningen, V. Curr. Opin. Genet. Dev. (1996)
- PAX6 mutations in aniridia. Hanson, I.M., Seawright, A., Hardman, K., Hodgson, S., Zaletayev, D., Fekete, G., van Heyningen, V. Hum. Mol. Genet. (1993)
- A novel PAX6 gene mutation in a Chinese family with aniridia. Song, S., Liu, Y., Guo, S., Zhang, L., Zhang, X., Wang, S., Lu, A., Li, L. Mol. Vis. (2005)
- Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina. Zhang, W., Cveklova, K., Oppermann, B., Kantorow, M., Cvekl, A. Mol. Vis. (2001)