Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Ashery-Padan, R., Marquardt, T., Zhou, X., Gruss, P.Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye. Genes Dev. 14: 2701-2711, 2000. [PubMed: 11069887] [Full Text: https://doi.org/10.1101/gad.184000\]
  2. Atchaneeyasakul, L., Trinavarat, A., Dulayajinda, D., Kumpornsin, K., Thongnoppakhun, W., Yenchitsomanus, P., Limwongse, C.Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. Ophthalmic Genet. 27: 21-27, 2006. [PubMed: 16543198] [Full Text: https://doi.org/10.1080/13816810500481667\]
  3. Axton, R., Hanson, I., Danes, S., Sellar, G., van Heyningen, V., Prosser, J.The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. J. Med. Genet. 34: 279-286, 1997. [PubMed: 9138149] [Full Text: https://doi.org/10.1136/jmg.34.4.279\]
  4. Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M.PAX6 missense mutation in isolated foveal hypoplasia. (Letter) Nature Genet. 13: 141-142, 1996. [PubMed: 8640214] [Full Text: https://doi.org/10.1038/ng0696-141\]
  5. Azuma, N., Tadokoro, K., Asaka, A., Yamada, M., Yamaguchi, Y., Handa, H., Matsushima, S., Watanabe, T., Kida, Y., Ogura, T., Torii, M., Shimamura, K., Nakafuku, M.Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor. Hum. Molec. Genet. 14: 1059-1068, 2005. [PubMed: 15757974] [Full Text: https://doi.org/10.1093/hmg/ddi098\]
  6. Azuma, N., Tadokoro, K., Asaka, A., Yamada, M., Yamaguchi, Y., Handa, H., Matsushima, S., Watanabe, T., Kohsaka, S., Kida, Y., Shiraishi, T., Ogura, T., Shimamura, K., Nakafuku, M.The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure. Hum. Molec. Genet. 14: 735-745, 2005. [PubMed: 15677484] [Full Text: https://doi.org/10.1093/hmg/ddi069\]
  7. Azuma, N., Yamaguchi, Y., Handa, H., Hayakawa, M., Kanai, A., Yamada, M.Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am. J. Hum. Genet. 65: 656-663, 1999. [PubMed: 10441571] [Full Text: https://doi.org/10.1086/302529\]
  8. Azuma, N., Yamaguchi, Y., Handa, H., Tadokoro, K., Asaka, A., Kawase, E., Yamada, M.Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am. J. Hum. Genet. 72: 1565-1570, 2003. [PubMed: 12721955] [Full Text: https://doi.org/10.1086/375555\]
  9. Bamiou, D.-E., Musiek, F. E., Sisodiya, S. M., Free, S. L., Davies, R. A., Moore, A., van Heyningen, V., Luxon, L. M.Deficient auditory interhemispheric transfer in patients with PAX6 mutations. Ann. Neurol. 56: 503-509, 2004. [PubMed: 15389894] [Full Text: https://doi.org/10.1002/ana.20227\]
  10. Bamiou, D.-E., Musiek, F. E., Sisodiya, S. M., Free, S. L., Mitchell, T. N., Davies, R. A.Defective auditory interhemispheric transfer in a patient with a PAX6 mutation. Neurology 62: 489-490, 2004. [PubMed: 14872040] [Full Text: https://doi.org/10.1212/01.wnl.0000106950.74155.0a\]
  11. Bandah, D., Swissa, T., Ben-Shlomo, G., Banin, E., Ofri, R., Sharon, D.A complex expression pattern of Pax6 in the pigeon retina. Invest. Ophthal. Vis. Sci. 48: 2503-2509, 2007. [PubMed: 17525177] [Full Text: https://doi.org/10.1167/iovs.06-1014\]
  12. Beauchamp, G. R.Anterior segment dysgenesis keratolenticular adhesion and aniridia. J. Pediat. Ophthal. Strabismus 17: 55-58, 1980. [PubMed: 6988567] [Full Text: https://doi.org/10.3928/0191-3913-19800101-15\]
  13. Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M. T., de Marco, R., Damante, G., Grainger, R., van Heyningen, V., Kleinjan, D. A.Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am. J. Hum. Genet. 93: 1126-1134, 2013. [PubMed: 24290376] [Full Text: https://doi.org/10.1016/j.ajhg.2013.10.028\]
  14. Bhinge, A., Poschmann, J., Namboori, S. C., Tian, X., Loh, S. J. H., Traczyk, A., Prabhakar, S., Stanton, L. W.MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TFG-beta/BMP signaling. EMBO J. 33: 1271-1283, 2014. [PubMed: 24802670] [Full Text: https://doi.org/10.1002/embj.201387215\]
  15. Bishop, K. M., Goudreau, G., O'Leary, D. D. M.Regulation of area identity in the mammalian neocortex by Emx2 and Pax6. Science 288: 344-349, 2000. [PubMed: 10764649] [Full Text: https://doi.org/10.1126/science.288.5464.344\]
  16. Chao, L.-Y., Mishra, R., Strong, L. C., Saunders, G. F.Missense mutations in the DNA-binding region and termination codon in PAX6. Hum. Mutat. 21: 138-145, 2003. [PubMed: 12552561] [Full Text: https://doi.org/10.1002/humu.10163\]
  17. Chauhan, B. K., Yang, Y., Cveklova, K., Cvekl, A.Functional properties of natural human PAX6 and PAX6(5a) mutants. Invest. Ophthal. Vis. Sci. 45: 385-392, 2004. [PubMed: 14744876] [Full Text: https://doi.org/10.1167/iovs.03-0968\]
  18. Crolla, J. A., Cross, I., Atkey, N., Wright, M., Oley, C. A.FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13). J. Med. Genet. 33: 66-68, 1996. [PubMed: 8825052] [Full Text: https://doi.org/10.1136/jmg.33.1.66\]
  19. Cushman, L. J., Camper, S. A.Molecular basis of pituitary dysfunction in mouse and human. Mammalian Genome 12: 485-494, 2001. [PubMed: 11420609] [Full Text: https://doi.org/10.1007/s003350040002\]
  20. D'Elia, A. V., Puppin, C., Pellizzari, L., Pianta, A., Bregant, E., Lonigro, R., Tell, G., Fogolari, F., van Heyningen, V., Damante, G.Molecular analysis of a human PAX6 homeobox mutant. Europ. J. Hum. Genet. 14: 744-751, 2006. [PubMed: 16493447] [Full Text: https://doi.org/10.1038/sj.ejhg.5201579\]
  21. Davis, A., Cowell, J. K.Mutations in the PAX6 gene in patients with hereditary aniridia. Hum. Molec. Genet. 2: 2093-2097, 1993. [PubMed: 8111379] [Full Text: https://doi.org/10.1093/hmg/2.12.2093\]
  22. Davis, L. K., Meyer, K. J., Rudd, D. S., Librant, A. L., Epping, E. A., Sheffield, V. C., Wassink, T. H.Pax6 3-prime deletion results in aniridia, autism and mental retardation. Hum. Genet. 123: 371-378, 2008. [PubMed: 18322702] [Full Text: https://doi.org/10.1007/s00439-008-0484-x\]
  23. Davis-Silberman, N., Kalich, T., Oron-Karni, V., Marquardt, T., Kroeber, M., Tamm, E. R., Ashery-Padan, R.Genetic dissection of Pax6 dosage requirements in the developing mouse eye. Hum. Molec. Genet. 14: 2265-2276, 2005. [PubMed: 15987699] [Full Text: https://doi.org/10.1093/hmg/ddi231\]
  24. Deml, B., Reis, L. M., Lemyre, E., Clark, R. D., Kariminejad, A., Semina, E. V.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. Europ. J. Hum. Genet. 24: 535-541, 2016. [PubMed: 26130484] [Full Text: https://doi.org/10.1038/ejhg.2015.155\]
  25. Dominguez, M., Ferres-Marco, D., Gutierrez-Avino, F. J., Speicher, S. A., Beneyto, M.Growth and specification of the eye are controlled independently by Eyegone and Eyeless in Drosophila melanogaster. Nature Genet. 36: 31-39, 2004. [PubMed: 14702038] [Full Text: https://doi.org/10.1038/ng1281\]
  26. Fantes, J. A., Bickmore, W. A., Fletcher, J. M., Ballesta, F., Hanson, I. M., van Heyningen, V.Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am. J. Hum. Genet. 51: 1286-1294, 1992. [PubMed: 1334370]
  27. Fantes, J., Redeker, B., Breen, M., Boyle, S., Brown, J., Fletcher, J., Jones, S., Bickmore, W., Fukushima, Y., Mannens, M., Danes, S., van Heyningen, V., Hanson, I.Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum. Molec. Genet. 4: 415-422, 1995. [PubMed: 7795596] [Full Text: https://doi.org/10.1093/hmg/4.3.415\]
  28. Glaser, T., Jepeal, L., Edwards, J. G., Young, S. R., Favor, J., Maas, R. L.PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet. 7: 463-471, 1994. Note: Erratum: Nature Genet. 8: 203 only, 1994. [PubMed: 7951315] [Full Text: https://doi.org/10.1038/ng0894-463\]
  29. Glaser, T., Lane, J., Housman, D.A mouse model of the aniridia-Wilms tumor deletion syndrome. Science 250: 823-827, 1990. [PubMed: 2173141] [Full Text: https://doi.org/10.1126/science.2173141\]
  30. Graziano, C., D'Elia, A. V., Mazzanti, L., Moscano, F., Guidi, S. G., Scarano, E., Turchetti, D., Franzoni, E., Romeo, G., Damante, G., Seri, M.A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am. J. Med. Genet. 143A: 1802-1805, 2007. [PubMed: 17595013] [Full Text: https://doi.org/10.1002/ajmg.a.31808\]
  31. Gronskov, K., Olsen, J. H., Sand, A., Pedersen, W., Carlsen, N., Jylling, A. M. B., Lyngbye, T., Brondum-Nielsen, K., Rosenberg, T.Population-based risk estimates of Wilms tumor in sporadic aniridia: a comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum. Genet. 109: 11-18, 2001. [PubMed: 11479730] [Full Text: https://doi.org/10.1007/s004390100529\]
  32. Gronskov, K., Rosenberg, T., Sand, A., Brondum-Nielsen, K.Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Europ. J. Hum. Genet. 7: 274-286, 1999. [PubMed: 10234503] [Full Text: https://doi.org/10.1038/sj.ejhg.5200308\]
  33. Halder, G., Callaerts, P., Gehring, W. J.Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 267: 1788-1792, 1995. [PubMed: 7892602] [Full Text: https://doi.org/10.1126/science.7892602\]
  34. Hansen, D. V., Lui, J. H., Parker, P. R. L., Kriegstein, A. R.Neurogenic radial glia in the outer subventricular zone of human neocortex. Nature 464: 554-561, 2010. [PubMed: 20154730] [Full Text: https://doi.org/10.1038/nature08845\]
  35. Hanson, I., Brown, A., van Heyningen, V.A new PAX6 mutation in familial aniridia. J. Med. Genet. 32: 488-489, 1995. [PubMed: 7666404] [Full Text: https://doi.org/10.1136/jmg.32.6.488\]
  36. Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V.Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum. Molec. Genet. 8: 165-172, 1999. [PubMed: 9931324] [Full Text: https://doi.org/10.1093/hmg/8.2.165\]
  37. Hanson, I. M., Fletcher, J. M., Jordon, T., Brown, A., Taylor, D., Adams, R. J., Punnett, H. H., van Heyningen, V.Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet. 6: 168-173, 1994. [PubMed: 8162071] [Full Text: https://doi.org/10.1038/ng0294-168\]
  38. Hanson, I. M., Seawright, A., Hardman, K., Hodgson, S., Zaletayev, D., Fekete, G., van Heyningen, V.PAX6 mutations in aniridia. Hum. Molec. Genet. 2: 915-920, 1993. [PubMed: 8364574] [Full Text: https://doi.org/10.1093/hmg/2.7.915\]
  39. Hanson, I. M.PAX6 and congenital eye malformations. Pediat. Res. 54: 791-796, 2003. [PubMed: 14561779] [Full Text: https://doi.org/10.1203/01.PDR.0000096455.00657.98\]
  40. Hanson, I., Van Heyningen, V.Pax6: more than meets the eye. Trends Genet. 11: 268-272, 1995. [PubMed: 7482776] [Full Text: https://doi.org/10.1016/s0168-9525(00)89073-3\]
  41. Heins, N., Malatesta, P., Cecconi, F., Nakafuku, M., Tucker, K. L., Hack, M. A., Chapouton, P., Barde, Y.-A., Gotz, M.Glial cells generate neurons: the role of the transcription factor Pax6. Nature Neurosci. 5: 308-315, 2002. Note: Erratum: Nature Neurosci. 5: 500 only, 2002. [PubMed: 11896398] [Full Text: https://doi.org/10.1038/nn828\]
  42. Henderson, R. A., Williamson, K., Cumming, S., Clarke, M. P., Lynch, S. A., Hanson, I. M., FitzPatrick, D. R., Sisodiya, S., van Heyningen, V.Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Europ. J. Hum. Genet. 15: 898-901, 2007. [PubMed: 17406642] [Full Text: https://doi.org/10.1038/sj.ejhg.5201826\]
  43. Hever, A. M., Williamson, K. A., van Heyningen, V.Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. Clin. Genet. 69: 459-470, 2006. [PubMed: 16712695] [Full Text: https://doi.org/10.1111/j.1399-0004.2006.00619.x\]
  44. Hill, R. E., Favor, J., Hogan, B. L. M., Ton, C. C. T., Saunders, G. F., Hanson, I. M., Prosser, J., Jordan, T., Hastie, N. D., van Heyningen, V.Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature 354: 522-525, 1991. Note: Erratum: Nature 355: 750 only, 1992. [PubMed: 1684639] [Full Text: https://doi.org/10.1038/354522a0\]
  45. Holmstrom, G. E., Reardon, W. P., Baraitser, M., Elston, J. S., Taylor, D. S.Heterogeneity in dominant anterior segment malformations. Brit. J. Ophthal. 75: 591-597, 1991. [PubMed: 1954207] [Full Text: https://doi.org/10.1136/bjo.75.10.591\]
  46. Jordan, T., Hanson, I., Zaletayev, D., Hodgson, S., Prosser, J., Seawright, A., Hastie, N., van Heyningen, V.The human PAX6 gene is mutated in two patients with aniridia. Nature Genet. 1: 328-332, 1992. [PubMed: 1302030] [Full Text: https://doi.org/10.1038/ng0892-328\]
  47. Karpen, G. H.Position effect variegation and the new biology of heterochromatin. Curr. Opin. Genet. Dev. 4: 281-291, 1994. [PubMed: 8032206] [Full Text: https://doi.org/10.1016/s0959-437x(05)80055-3\]
  48. Kioussi, C., O'Connell, S., St-Onge, L., Treier, M., Gleiberman, A. S., Gruss, P., Rosenfeld, M. G.Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development. Proc. Nat. Acad. Sci. 96: 14378-14382, 1999. [PubMed: 10588713] [Full Text: https://doi.org/10.1073/pnas.96.25.14378\]
  49. Kleinjan, D. A., Seawright, A., Schedl, A., Quinlan, R. A., Danes, S., van Heyningen, V.Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum. Molec. Genet. 10: 2049-2059, 2001. [PubMed: 11590122] [Full Text: https://doi.org/10.1093/hmg/10.19.2049\]
  50. Kroeber, M., Davis, N., Holzmann, S., Kritzenberger, M., Shelah-Goraly, M., Ofri, R., Ashery-Padan, R., Tamm, E. R.Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma. Hum. Molec. Genet. 19: 3332-3342, 2010. [PubMed: 20538882] [Full Text: https://doi.org/10.1093/hmg/ddq237\]
  51. Lauderdale, J. D., Wilensky, J. S., Oliver, E. R., Walton, D. S., Glaser, T.3-prime deletions cause aniridia by preventing PAX6 gene expression. Proc. Nat. Acad. Sci. 97: 13755-13759, 2000. [PubMed: 11087823] [Full Text: https://doi.org/10.1073/pnas.240398797\]
  52. Li, S., Goldowitz, D., Swanson, D. J.The requirement of Pax6 for postnatal eye development: evidence from experimental mouse chimeras. Invest. Ophthal. Vis. Sci. 48: 3292-3300, 2007. [PubMed: 17591901] [Full Text: https://doi.org/10.1167/iovs.06-1482\]
  53. Liang, C.-L., Hsi, E., Chen, K.-C., Pan, Y.-R., Wang, Y.-S., Juo, S.-H. H.A functional polymorphism at 3-prime UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese. Invest. Ophthal. Vis. Sci. 52: 3500-3505, 2011. [PubMed: 21421876] [Full Text: https://doi.org/10.1167/iovs.10-5859\]
  54. Lin, H., Ouyang, H., Zhu, J., Huang, S., Liu, Z., Chen, S., Cao, G., Li, G., Signer, R. A. J., Xu, Y., Chung, C., Zhang, Y., and 31 others.Lens regeneration using endogenous stem cells with gain of visual function. Nature 531: 323-328, 2016. Note: Erratum: Nature: 541: 558 only, 2017. [PubMed: 26958831] [Full Text: https://doi.org/10.1038/nature17181\]
  55. Lyon, M. F.Personal Communication. Harwell, England 6/9/1988.
  56. Malandrini, A., Mari, F., Palmeri, S., Gambelli, S., Berti, G., Bruttini, M., Bardelli, A. M., Williamson, K., van Heyningen, V., Renieri, A.PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin. Genet. 60: 151-154, 2001. [PubMed: 11553050] [Full Text: https://doi.org/10.1034/j.1399-0004.2001.600210.x\]
  57. Mann, R. S.Two Pax are better than one. Nature Genet. 36: 10-11, 2004. [PubMed: 14702032] [Full Text: https://doi.org/10.1038/ng0104-10\]
  58. Marquardt, T., Ashery-Padan, R., Andrejewski, N., Scardigli, R., Guillemot, F., Gruss, P.Pax6 is required for the multipotent state of retinal progenitor cells. Cell 105: 43-55, 2001. [PubMed: 11301001] [Full Text: https://doi.org/10.1016/s0092-8674(01)00295-1\]
  59. Martha, A., Strong, L. C., Ferrell, R. E., Saunders, G. F.Three novel aniridia mutations in the human PAX6 gene. Hum. Mutat. 6: 44-49, 1995. [PubMed: 7550230] [Full Text: https://doi.org/10.1002/humu.1380060109\]
  60. Masse, K., Bhamra, S., Eason, R., Dale, N., Jones, E. A.Purine-mediated signalling triggers eye development. Nature 449: 1058-1062, 2007. [PubMed: 17960245] [Full Text: https://doi.org/10.1038/nature06189\]
  61. Matsuo, T., Osumi-Yamashita, N., Noji, S., Ohuchi, H., Koyama, E., Myokai, F., Matsuo, N., Taniguchi, S., Doi, H., Iseki, S., Ninomiya, Y., Fujiwara, M., Watanabe, T., Eto, K.A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nature Genet. 3: 299-304, 1993. [PubMed: 7981749] [Full Text: https://doi.org/10.1038/ng0493-299\]
  62. Mirzayans, F., Pearce, W. G., MacDonald, I. M., Walter, M. A.Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am. J. Hum. Genet. 57: 539-548, 1995. [PubMed: 7668281]
  63. Mitchell, T. N., Free, S. L., Williamson, K. A., Stevens, J. M., Churchill, A. J., Hanson, I. M., Shorvon, S. D., Moore, A. T., van Heyningen, V., Sisodiya, S. M.Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann. Neurol. 53: 658-663, 2003. [PubMed: 12731001] [Full Text: https://doi.org/10.1002/ana.10576\]
  64. Morell, R. J., Brewer, C. C., Ge, D., Snieder, H., Zalewski, C. K., King, K. A., Drayna, D., Friedman, T. B.A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait. Hum. Genet. 122: 103-111, 2007. [PubMed: 17533509] [Full Text: https://doi.org/10.1007/s00439-007-0384-5\]
  65. Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K., van Heyningen, V., Fleck, B., Jones, I., Chalmers, J., Campbell, H.National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. J. Med. Genet. 39: 16-22, 2002. [PubMed: 11826019] [Full Text: https://doi.org/10.1136/jmg.39.1.16\]
  66. Pearce, W. G., Mielke, B. W., Hassard, D. T. R., Climenhaga, H. W., Climenhaga, D. B., Hodges, E. J.Autosomal dominant keratitis: a possible aniridia variant. Canad. J. Ophthal. 30: 131-137, 1995. [PubMed: 7627897]
  67. Prosser, J., van Heyningen, V.PAX6 mutations reviewed. Hum. Mutat. 11: 93-108, 1998. [PubMed: 9482572] [Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M]
  68. Quiring, R., Walldorf, U., Kloter, U., Gehring, W. J.Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans. Science 265: 785-789, 1994. [PubMed: 7914031] [Full Text: https://doi.org/10.1126/science.7914031\]
  69. Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., Ruddle, P., Hurst, J., and 9 others.Heterozygous mutations of OTX2 cause severe ocular malformations. Am. J. Hum. Genet. 76: 1008-1022, 2005. Note: Erratum: Am. J. Hum. Genet. 77: 334 only, 2005. [PubMed: 15846561] [Full Text: https://doi.org/10.1086/430721\]
  70. Ramaesh, T., Collinson, J. M., Ramaesh, K., Kaufman, M. H., West, J. D., Dhillon, B.Corneal abnormalities in Pax6 +/- small eye mice mimic human aniridia-related keratopathy. Invest. Ophthal. Vis. Sci. 44: 1871-1878, 2003. [PubMed: 12714618] [Full Text: https://doi.org/10.1167/iovs.02-0576\]
  71. Ramaesh, T., Ramaesh, K., Leask, R., Springbett, A., Riley, S. C., Dhillon, B., West, J. D.Increased apoptosis and abnormal wound-healing responses in the heterozygous Pax6 +/- mouse cornea. Invest. Ophthal. Vis. Sci. 47: 1911-1917, 2006. [PubMed: 16638998] [Full Text: https://doi.org/10.1167/iovs.05-1028\]
  72. Richardson, J., Cvekl, A., Wistow, G.Pax-6 is essential for lens-specific expression of zeta-crystallin. Proc. Nat. Acad. Sci. 92: 4676-4680, 1995. [PubMed: 7753863] [Full Text: https://doi.org/10.1073/pnas.92.10.4676\]
  73. Robinson, D. O., Howarth, R. J., Williamson, K. A., van Heyningen, V., Beal, S. J., Crolla, J. A.Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am. J. Med. Genet. 146A: 558-569, 2008. [PubMed: 18241071] [Full Text: https://doi.org/10.1002/ajmg.a.32209\]
  74. Salvini-Plawen, L., Mayr, E.On the evolution of photoreceptors and eyes. In: Hecht, M. K.; Steere, W.; Wallace, B. (eds.): Evolutionary Biology. Vol. 10. New York: Plenum Pub. (pub.) 1977. Pp. 207-263.
  75. Sander, M., Neubuser, A., Kalamaras, J., Ee, H. C., Martin, G. R., German, M. S.Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development. Genes Dev. 11: 1662-1673, 1997. [PubMed: 9224716] [Full Text: https://doi.org/10.1101/gad.11.13.1662\]
  76. Scardigli, R., Schuurmans, C., Gradwohl, G., Guillemot, F.Crossregulation between neurogenin2 and pathways specifying neuronal identity in the spinal cord. Neuron 31: 203-217, 2001. [PubMed: 11502253] [Full Text: https://doi.org/10.1016/s0896-6273(01)00358-0\]
  77. Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V., Hastie, N. D.Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86: 71-82, 1996. [PubMed: 8689689] [Full Text: https://doi.org/10.1016/s0092-8674(00)80078-1\]
  78. Singh, S., Chao, L. Y., Mishra, R., Davies, J., Saunders, G. F.Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum. Molec. Genet. 10: 911-918, 2001. [PubMed: 11309364] [Full Text: https://doi.org/10.1093/hmg/10.9.911\]
  79. Singh, S., Mishra, R., Arango, N. A., Deng, J. M., Behringer, R. R., Saunders, G. F.Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform. Proc. Nat. Acad. Sci. 99: 6812-6815, 2002. [PubMed: 11983873] [Full Text: https://doi.org/10.1073/pnas.102691299\]
  80. Singh, S., Tang, H. K., Lee, J.-Y., Saunders, G. F.Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. J. Biol. Chem. 273: 21531-21541, 1998. [PubMed: 9705283] [Full Text: https://doi.org/10.1074/jbc.273.34.21531\]
  81. 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.PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nature Genet. 28: 214-216, 2001. [PubMed: 11431688] [Full Text: https://doi.org/10.1038/90042\]
  82. Solomon, B. D., Pineda-Alvarez, D. E., Balog, J. Z., Hadley, D., Gropman, A. L., Nandagopal, R., Han, J. C., Hahn, J. S., Blain, D., Brooks, B., Muenke, M.Compound heterozygosity for mutations in Pax6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (sic). Am. J. Med. Genet. 149A: 2543-2546, 2009. [PubMed: 19876904] [Full Text: https://doi.org/10.1002/ajmg.a.33081\]
  83. St-Onge, L., Sosa-Pineda, B., Chowdhury, K., Mansouri, A., Gruss, P.Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature 387: 406-409, 1997. [PubMed: 9163426] [Full Text: https://doi.org/10.1038/387406a0\]
  84. Stone, D. L., Kenyon, K. R., Green, W. R., Ryan, S. J.Congenital central corneal leukoma (Peters' anomaly). Am. J. Ophthal. 81: 173-193, 1976. [PubMed: 1251879] [Full Text: https://doi.org/10.1016/0002-9394(76)90729-7\]
  85. Thaung, C., West, K., Clark, B. J., McKie, L., Morgan, J. E., Arnold, K., Nolan, P. M., Peters, J., Hunter, A. J., Brown, S. D. M., Jackson, I. J., Cross, S. H.Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum. Molec. Genet. 11: 755-767, 2002. [PubMed: 11929848] [Full Text: https://doi.org/10.1093/hmg/11.7.755\]
  86. Ticho, B. H., Hilchie-Schmidt, C., Egel, R. T., Traboulsi, E. I., Howarth, R. J., Robinson, D.Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthal. Genet. 27: 145-149, 2006. [PubMed: 17148041] [Full Text: https://doi.org/10.1080/13816810600976897\]
  87. Ton, C. C. T., Hirvonen, H., Miwa, H., Weil, M. M., Monaghan, P., Jordan, T., van Heyningen, V., Hastie, N. D., Meijers-Heijboer, H., Drechsler, M., Royer-Pokora, B., Collins, F., Swaroop, A., Strong, L. C., Saunders, G. F.Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 67: 1059-1074, 1991. [PubMed: 1684738] [Full Text: https://doi.org/10.1016/0092-8674(91)90284-6\]
  88. Ton, C. C. T., Miwa, H., Saunders, G. F.Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. Genomics 13: 251-256, 1992. [PubMed: 1612585] [Full Text: https://doi.org/10.1016/0888-7543(92)90239-o\]
  89. van der Meer-de Jong, R., Dickinson, M. E., Woychik, R. P., Stubbs, L., Hetherington, C., Hogan, B. L. M.Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). Genomics 7: 270-275, 1990. [PubMed: 2347591] [Full Text: https://doi.org/10.1016/0888-7543(90)90550-e\]
  90. van Heyningen, V., Williamson, K. A.PAX6 in sensory development. Hum. Molec. Genet. 11: 1161-1167, 2002. [PubMed: 12015275] [Full Text: https://doi.org/10.1093/hmg/11.10.1161\]
  91. Vincent, M-C., Gallai, R., Olivier, D., Speeg-Schatz, C., Flament, J., Calvas, P., Dollfus, H.Variable phenotype related to a novel PAX 6 mutation (IVS4+5G-to-C) in a family presenting congenital nystagmus and foveal hypoplasia. Am. J. Ophthal. 138: 1016-1021, 2004. [PubMed: 15629294] [Full Text: https://doi.org/10.1016/j.ajo.2004.08.003\]
  92. Walther, C., Gruss, P.Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 113: 1435-1449, 1991. [PubMed: 1687460] [Full Text: https://doi.org/10.1242/dev.113.4.1435\]
  93. Wawersik, S., Maas, R. L.Vertebrate eye development as modeled in Drosophila. Hum. Molec. Genet. 9: 917-925, 2000. [PubMed: 10767315] [Full Text: https://doi.org/10.1093/hmg/9.6.917\]
  94. Williamson, K. A., Hall, H. N., Owen, L. J., Livesey, B. J., Hanson, I. M., Adams, G. G. W., Bodek, S., Calvas, P., Castle, B., Clarke, M., Deng, A. T., Edery, P., and 19 others.Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genet. Med. 22: 598-609, 2020. [PubMed: 31700164] [Full Text: https://doi.org/10.1038/s41436-019-0685-9\]
  95. Zhang, X., Friedman, A., Heaney, S., Purcell, P., Maas, R. L.Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev. 16: 2097-2107, 2002. [PubMed: 12183364] [Full Text: https://doi.org/10.1101/gad.1007602\]
  96. Zuker, C. S.On the evolution of eyes: would you like it simple or compound? Science 265: 742-743, 1994. [PubMed: 8047881] [Full Text: https://doi.org/10.1126/science.8047881\]