Pax6: A multi-level regulator of ocular development
Tài liệu tham khảo
Acampora, 1996, Epilepsy and brain abnormalities in mice lacking the Otx1 gene, Nat. Genet., 14, 218, 10.1038/ng1096-218
Agathocleous, 2009, From progenitors to differentiated cells in the vertebrate retina, Annu. Rev. Cell Dev. Biol., 25, 45, 10.1146/annurev.cellbio.042308.113259
Ahmad, 2000, Identification of neural progenitors in the adult mammalian eye, Biochem. Biophys. Res. Commun., 270, 517, 10.1006/bbrc.2000.2473
Altmann, 1997, Lens induction by Pax-6 in Xenopus laevis, Dev. Biol., 185, 119, 10.1006/dbio.1997.8573
Andersen, 1999, Pax6 and Cdx2/3 form a functional complex on the rat glucagon gene promoter G1-element, FEBS Lett., 445, 306, 10.1016/S0014-5793(99)00145-3
Andersen, 1999, Pax6 and Pdx1 form a functional complex on the rat somatostatin gene upstream enhancer, FEBS Lett., 445, 315, 10.1016/S0014-5793(99)00144-1
Anderson, 2002, Differential Pax6 promoter activity and transcript expression during forebrain development, Mech. Dev., 114, 171, 10.1016/S0925-4773(02)00051-5
Andrews, 2003, R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons, J. Neurosci., 23, 9873, 10.1523/JNEUROSCI.23-30-09873.2003
Ansari, 2011, A partner evokes latent differences between Hox proteins, Cell, 147, 1220, 10.1016/j.cell.2011.11.046
Ambati, 2006, Corneal avascularity is due to soluble VEGF receptor-1, Nature, 443, 993, 10.1038/nature05249
Aota, 2003, Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene, Dev. Biol., 257, 1, 10.1016/S0012-1606(03)00058-7
Arai, 2005, Role of Fabp7, a downstream gene of Pax6, in the maintenance of neuroepithelial cells during early embryonic development of the rat cortex, J. Neurosci., 25, 9752, 10.1523/JNEUROSCI.2512-05.2005
Arendt, 2009, The ’division of labour’ model of eye evolution, Philos. Trans. R. Soc. Lond. B Biol. Sci., 364, 2809, 10.1098/rstb.2009.0104
Asami, 2011, The role of Pax6 in regulating the orientation and mode of cell devision of progenitors in the mouse cerebral cortex, Development, 138, 5067, 10.1242/dev.074591
Asami, 2007, Multipotent cells from mammalian iris pigment epithelium, Dev. Biol., 304, 433, 10.1016/j.ydbio.2006.12.047
Ashery-Padan, 2000, 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, 10.1101/gad.184000
Azuma, 1996, PAX6 missense mutation in isolated foveal hypoplasia, Nat. Genet., 13, 141, 10.1038/ng0696-141
Azuma, 2005, The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure, Hum. Mol. Genet., 14, 735, 10.1093/hmg/ddi069
Azuma, 1999, Am. J. Hum. Genet., 65, 656, 10.1086/302529
Bailey, 2006, Lens specification is the ground state of all sensory placodes, from which FGF promotes olfactory identity, Dev. Cell, 11, 505, 10.1016/j.devcel.2006.08.009
Baker, 2011, Retinal determination genes function along with cell-cell signals to regulate Drosophila eye development: examples of multi-layered regulation by master regulators, Bioessays, 33, 538, 10.1002/bies.201000131
Barbieri, 1999, A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis, Proc. Natl. Acad. Sci. U.S.A., 96, 10729, 10.1073/pnas.96.19.10729
Bassnett, 1992, Coincident loss of mitochondria and nuclei during lens fiber cell differentiation, Dev. Dyn., 194, 85, 10.1002/aja.1001940202
Baumer, 2002, Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle, Development, 129, 4535, 10.1242/dev.129.19.4535
Baumer, 2003, Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6, Development, 130, 2903, 10.1242/dev.00450
Baye, 2008, Nuclear migration during retinal development, Brain Res., 1192, 29, 10.1016/j.brainres.2007.05.021
Beebe, 1982, The mechanism of cell elongation during lens fiber cell differentiation, Dev. Biol., 92, 54, 10.1016/0012-1606(82)90149-X
Bel-Vialar, 2007, The on/off of Pax6 controls the tempo of neuronal differentiation in the developing spinal cord, Dev. Biol., 305, 659, 10.1016/j.ydbio.2007.02.012
Bhattacharyya, 2004, Segregation of lens and olfactory precursors from a common territory: cell sorting and reciprocity of Dlx5 and Pax6 expression, Dev. Biol., 271, 403, 10.1016/j.ydbio.2004.04.010
Blixt, 2000, A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle, Genes Dev., 14, 245, 10.1101/gad.14.2.245
Brown, 1998, The human PAX6 mutation database, Nucleic Acids Res., 26, 259, 10.1093/nar/26.1.259
Brown, 2010, Nlcam modulates midline convergence during anterior neural plate morphogenesis, Dev. Biol., 339, 14, 10.1016/j.ydbio.2009.12.003
Brownell, 2000, Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation, Genesis, 27, 81, 10.1002/1526-968X(200006)27:2<81::AID-GENE50>3.0.CO;2-N
Bumsted, 2000, Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse, Invest. Ophthalmol. Vis. Sci., 41, 903
Burmeister, 1996, Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation, Nat. Genet., 12, 376, 10.1038/ng0496-376
Byerly, 2009, Vertebrate retina and hypothalamus development, Wiley Interdiscip. Rev. Syst. Biol. Med., 1, 380, 10.1002/wsbm.22
Cai, 2010, Temporal requirement of the protein tyrosine phosphatase Shp2 in establishing the neuronal fate in early retinal development, J. Neurosci., 30, 4110, 10.1523/JNEUROSCI.4364-09.2010
Carl, 2002, Six3 inactivation reveals its essential role for the formation and patterning of the vertebrate eye, Development, 129, 4057, 10.1242/dev.129.17.4057
Carriere, 1993, Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina, Mol. Cell Biol., 13, 7257, 10.1128/MCB.13.12.7257
Carter-Dawson, 1979, Rods and cones in the mouse retina. II. Autoradiographic analysis of cell generation using tritiated thymidine, J. Comp. Neurol., 188, 263, 10.1002/cne.901880205
Cau, 2009, Notch activity in the nervous system: to switch or not switch?, Neural Dev., 4, 36, 10.1186/1749-8104-4-36
Cepko, 1996, Cell fate determination in the vertebrate retina, Proc. Natl. Acad. Sci. U.S.A., 93, 589, 10.1073/pnas.93.2.589
Chalepakis, 1994, Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1, DNA Cell Biol., 13, 891, 10.1089/dna.1994.13.891
Chauhan, 2002, A comparative cDNA microarray analysis reveals a spectrum of genes regulated by Pax6 in mouse lens, Genes Cells, 7, 1267, 10.1046/j.1365-2443.2002.00602.x
Chauhan, 2002, Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays, J. Biol. Chem., 277, 11539, 10.1074/jbc.M110531200
Chauhan, 2004, Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency, Nucleic Acids Res., 32, 1696, 10.1093/nar/gkh334
Chen, 1997, Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes, Neuron, 19, 1017, 10.1016/S0896-6273(00)80394-3
Chiang, 1996, Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function, Nature, 383, 407, 10.1038/383407a0
Cho, 2006, Wnt2b/beta-catenin-mediated canonical Wnt signaling determines the peripheral fates of the chick eye, Development, 133, 3167, 10.1242/dev.02474
Chow, 1999, Pax6 induces ectopic eyes in a vertebrate, Development, 126, 4213, 10.1242/dev.126.19.4213
Cicero, 2009, Cells previously identified as retinal stem cells are pigmented ciliary epithelial cells, Proc. Natl. Acad. Sci. U.S.A., 106, 6685, 10.1073/pnas.0901596106
Collinson, 2000, Different roles for Pax6 in the optic vesicle and facial epithelium mediate early morphogenesis of the murine eye, Development, 127, 945, 10.1242/dev.127.5.945
Collinson, 2001, Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye, Proc. Natl. Acad. Sci. U.S.A., 98, 9688, 10.1073/pnas.161144098
Collinson, 2003, The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo, Dev. Biol., 255, 303, 10.1016/S0012-1606(02)00095-7
Coutinho, 2011, Discovery and assessment of conserved Pax6 target genes and enhancers, Genome Res., 21, 1349, 10.1101/gr.124115.111
Crolla, 2002, Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia, Am. J. Hum. Genet., 71, 1138, 10.1086/344396
Curtiss, 2002, Selector and signalling molecules cooperate in organ patterning, Nat. Cell Biol., 4, E48, 10.1038/ncb0302-e48
Cvekl, 2007, Genetic and epigenetic mechanisms of gene regulation during lens development, Prog. Retin. Eye Res., 26, 555, 10.1016/j.preteyeres.2007.07.002
Cvekl, 1999, Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein, Invest. Ophthalmol. Vis. Sci., 40, 1343
Cvekl, 2010, Epigenetic regulatory mechanisms in vertebrate eye development and disease, Heredity, 105, 135, 10.1038/hdy.2010.16
Cvekl, 2004, Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases, Bioessays, 26, 374, 10.1002/bies.20009
Cwinn, 2011, Suppressor of fused is required to maintain the multipotency of neural progenitor cells in the retina, J. Neurosci., 31, 5169, 10.1523/JNEUROSCI.5495-10.2011
Czerny, 1995, DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5), Mol. Cell Biol., 15, 2858, 10.1128/MCB.15.5.2858
Czerny, 1999, twin of eyeless, a second Pax-6 gene of Drosophila, acts upstream of eyeless in the control of eye development, Mol. Cell, 3, 297, 10.1016/S1097-2765(00)80457-8
Davis-Silberman, 2008, Iris development in vertebrates; genetic and molecular considerations, Brain Res., 1192, 17, 10.1016/j.brainres.2007.03.043
Davis-Silberman, 2005, Genetic dissection of Pax6 dosage requirements in the developing mouse eye, Hum. Mol. Genet., 14, 2265, 10.1093/hmg/ddi231
Davis, 2003, Requirement for Pax6 in corneal morphogenesis: a role in adhesion, J. Cell Sci., 116, 2157, 10.1242/jcs.00441
Davis, 2011, Overexpression of Pax6 in mouse cornea directly alters corneal epithelial cells: changes in immune function, vascularization, and differentiation, Invest. Ophthalmol. Vis. Sci., 52, 4158, 10.1167/iovs.10-6726
Davis, 2009, Pax6 dosage requirements in iris and ciliary body differentiation, Dev. Biol., 333, 132, 10.1016/j.ydbio.2009.06.023
Dimanlig, 2001, The upstream ectoderm enhancer in Pax6 has an important role in lens induction, Development, 128, 4415, 10.1242/dev.128.22.4415
Donner, 2007, Sox2 and Pou2f1 interact to control lens and olfactory placode development, Dev. Biol., 303, 784, 10.1016/j.ydbio.2006.10.047
Dora, 2008, PAX6 dosage effects on corneal development, growth, and wound healing, Dev. Dyn., 237, 1295, 10.1002/dvdy.21528
Dowling, 1987
Dudley, 1995, A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye, Genes Dev., 9, 2795, 10.1101/gad.9.22.2795
Duester, 2009, Keeping an eye on retinoic acid signaling during eye development, Chem. Biol. Interact., 178, 178, 10.1016/j.cbi.2008.09.004
Duncan, 2002, Prox1 is differentially localized during lens development, Mech. Dev., 112, 195, 10.1016/S0925-4773(01)00645-1
Duncan, 1998, Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific beta-crystallin genes, Mol. Cell Biol., 18, 5579, 10.1128/MCB.18.9.5579
Duncan, 2000, Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression, J. Cell Sci., 113, 3173, 10.1242/jcs.113.18.3173
Duncan, 2004, Ectopic Pax6 expression disturbs lens fiber cell differentiation, Invest. Ophthalmol. Vis. Sci., 45, 3589, 10.1167/iovs.04-0151
Duparc, 2007, Pax6 controls the proliferation rate of neuroepithelial progenitors from the mouse optic vesicle, Dev. Biol., 301, 374, 10.1016/j.ydbio.2006.11.006
Duparc, 2006, Pax6 is required for delta-catenin/neurojugin expression during retinal, cerebellar and cortical development in mice, Dev. Biol., 300, 647, 10.1016/j.ydbio.2006.07.045
Eiraku, 2011, Self-organizing optic-cup morphogenesis in three-dimensional culture, Nature, 472, 51, 10.1038/nature09941
Engelkamp, 1999, Role of Pax6 in development of the cerebellar system, Development, 126, 3585, 10.1242/dev.126.16.3585
Elkon, 2008, SPIKE–a database, visualization and analysis tool of cellular signaling pathways, BMC Bioinformatics, 9, 110, 10.1186/1471-2105-9-110
England, 2006, A dynamic fate map of the forebrain shows how vertebrate eyes form and explains two causes of cyclopia, Development, 133, 4613, 10.1242/dev.02678
Epstein, 1994, Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes, J. Biol. Chem., 269, 8355, 10.1016/S0021-9258(17)37201-0
Epstein, 1994, Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing, Genes Dev., 8, 2022, 10.1101/gad.8.17.2022
Estivill-Torrus, 2002, Pax6 is required to regulate the cell cycle and the rate of progression from symmetrical to asymmetrical division in mammalian cortical progenitors, Development, 129, 455, 10.1242/dev.129.2.455
Faber, 2001, Fgf receptor signaling plays a role in lens induction, Development, 128, 4425, 10.1242/dev.128.22.4425
Fantes, 1995, Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype, Hum. Mol. Genet., 4, 415, 10.1093/hmg/4.3.415
Farah, 2000, Generation of neurons by transient expression of neural bHLH proteins in mammalian cells, Development, 127, 693, 10.1242/dev.127.4.693
Farkas, 2008, The cell biology of neural stem and progenitor cells and its significance for their proliferation versus differentiation during mammalian brain development, Curr. Opin. Cell Biol., 20, 707, 10.1016/j.ceb.2008.09.008
Favor, 2008, Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus, Genetics, 179, 1345, 10.1534/genetics.108.088591
Favor, 2001, Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus, Genetics, 159, 1689, 10.1093/genetics/159.4.1689
Feng, 2010, MATH5 controls the acquisition of multiple retinal cell fates, Mol. Brain, 3, 36, 10.1186/1756-6606-3-36
Freund, 1997, Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor, Cell, 91, 543, 10.1016/S0092-8674(00)80440-7
Fuhrmann, 2000, Extraocular mesenchyme patterns the optic vesicle during early eye development in the embryonic chick, Development, 127, 4599, 10.1242/dev.127.21.4599
Fujimura, 2009, Spatial and temporal regulation of Wnt/beta-catenin signaling is essential for development of the retinal pigment epithelium, Dev. Biol., 334, 31, 10.1016/j.ydbio.2009.07.002
Fujiwara, 1994, Uchida rat (rSey): a new mutant rat with craniofacial abnormalities resembling those of the mouse Sey mutant, Differentiation, 57, 31, 10.1046/j.1432-0436.1994.5710031.x
Furukawa, 1997, Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation, Cell, 91, 531, 10.1016/S0092-8674(00)80439-0
Furukawa, 2000, rax, Hes1, and notch1 promote the formation of Muller glia by postnatal retinal progenitor cells, Neuron, 26, 383, 10.1016/S0896-6273(00)81171-X
Furuta, 1998, BMP4 is essential for lens induction in the mouse embryo, Genes. Dev., 12, 3764, 10.1101/gad.12.23.3764
Garcia, 2011, The function of FGF signaling in the lens placode, Dev. Biol., 351, 176, 10.1016/j.ydbio.2011.01.001
Geng, 2008, Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly, Dev. Cell, 15, 236, 10.1016/j.devcel.2008.07.003
Georgala, 2011, The role of Pax6 in forebrain development, Dev. Neurobiol., 71, 690, 10.1002/dneu.20895
Glaser, 1994, PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects, Nat. Genet., 7, 463, 10.1038/ng0894-463
Glaser, 1990, A mouse model of the aniridia-Wilms tumor deletion syndrome, Science, 250, 823, 10.1126/science.2173141
Glaser, 1992, Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene, Nat. Genet., 2, 232, 10.1038/ng1192-232
Gorlov, 2002, A method for isolating alternatively spliced isoforms: isolation of murine Pax6 isoforms, Anal. Biochem., 308, 401, 10.1016/S0003-2697(02)00244-0
Gosmain, 2010, Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function, J. Biol. Chem., 285, 33381, 10.1074/jbc.M110.147215
Gotoh, 2004, Tyrosine phosphorylation sites on FRS2alpha responsible for Shp2 recruitment are critical for induction of lens and retina, Proc. Natl. Acad. Sci. U.S.A., 101, 17144, 10.1073/pnas.0407577101
Gotz, 1998, Pax6 controls radial glia differentiation in the cerebral cortex, Neuron, 21, 1031, 10.1016/S0896-6273(00)80621-2
Goudreau, 2002, Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype, Proc. Natl. Acad. Sci. U.S.A., 99, 8719, 10.1073/pnas.132195699
Gould, 2004, Anterior segment development relevant to glaucoma, Int. J. Dev. Biol., 48, 1015, 10.1387/ijdb.041865dg
Grainger, 1992, Embryonic lens induction: shedding light on vertebrate tissue determination, Trends Genet., 8, 349, 10.1016/0168-9525(92)90280-H
Grapp, 2009, The homeodomain of PAX6 is essential for PAX6-dependent activation of the rat glucagon gene promoter: evidence for a PH0-like binding that induces an active conformation, Biochim. Biophys. Acta, 1789, 403, 10.1016/j.bbagrm.2009.02.001
Graw, 2005, Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters, Invest. Ophthalmol. Vis. Sci., 46, 4671, 10.1167/iovs.04-1407
Griffin, 2002, New 3’ elements control Pax6 expression in the developing pretectum, neural retina and olfactory region, Mech. Dev., 112, 89, 10.1016/S0925-4773(01)00646-3
Grindley, 1995, The role of Pax-6 in eye and nasal development, Development, 121, 1433, 10.1242/dev.121.5.1433
Grocott, 2007, The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter, Nucleic Acids Res., 35, 890, 10.1093/nar/gkl1105
Grocott, 2011, Neural crest cells organize the eye via TGF-beta and canonical Wnt signalling, Nat. Commun., 2, 265, 10.1038/ncomms1269
Gualdoni, 2010, Adult ciliary epithelial cells, previously identified as retinal stem cells with potential for retinal repair, fail to differentiate into new rod photoreceptors, Stem Cells, 28, 1048, 10.1002/stem.423
Hack, 2005, Neuronal fate determinants of adult olfactory bulb neurogenesis, Nat. Neurosci., 8, 865, 10.1038/nn1479
Hagglund, 2011, Lhx2 is required for patterning and expansion of a distinct progenitor cell population committed to eye development, PLoS One, 6, e23387, 10.1371/journal.pone.0023387
Halder, 1995, Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila, Science, 267, 1788, 10.1126/science.7892602
Halfter, 2008, Origin and turnover of ECM proteins from the inner limiting membrane and vitreous body, Eye (Lond), 22, 1207, 10.1038/eye.2008.19
Halfter, 2005, Embryonic synthesis of the inner limiting membrane and vitreous body, Invest. Ophthalmol. Vis. Sci., 46, 2202, 10.1167/iovs.04-1419
Hallonet, 1999, Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system, Genes Dev., 13, 3106, 10.1101/gad.13.23.3106
Hamburger, 1951, A series of normal stages in the development of the chick embryo, J. Morphol., 88, 49, 10.1002/jmor.1050880104
Hanson, 1999, Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations, Hum. Mol. Genet., 8, 165, 10.1093/hmg/8.2.165
Hanson, 1995, Pax6: more than meets the eye, Trends Genet., 11, 268, 10.1016/S0168-9525(00)89073-3
Harman, 1987, Patterns of cytogenesis in the developing retina of the wallaby Setonix brachyurus, Anat. Embryol. (Berl), 177, 123, 10.1007/BF00572536
Hatakeyama, 2004, Retinal cell fate determination and bHLH factors, Semin. Cell Dev. Biol., 15, 83, 10.1016/j.semcdb.2003.09.005
Hatakeyama, 2001, Roles of homeobox and bHLH genes in specification of a retinal cell type, Development, 128, 1313, 10.1242/dev.128.8.1313
Hatini, 1994, Expression of winged helix genes, BF-1 and BF-2, define adjacent domains within the developing forebrain and retina, J. Neurobiol., 25, 1293, 10.1002/neu.480251010
Haubst, 2004, Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development, Development, 131, 6131, 10.1242/dev.01524
Hendrix, 1974, Cell shape regulation and cell cycle in embryonic lens cells, Nature, 247, 145, 10.1038/247145a0
Hendrix, 1975, The matrix of the optic vesicle-presumptive lens interface during induction of the lens in the chicken embryo, J. Embryol. Exp. Morphol., 33, 1023
Hennig, 2008, Regulation of photoreceptor gene expression by Crx-associated transcription factor network, Brain Res., 1192, 114, 10.1016/j.brainres.2007.06.036
Hill, 1991, Mouse small eye results from mutations in a paired-like homeobox-containing gene, Nature, 354, 522, 10.1038/354522a0
Hogan, 1986, Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse, J. Embryol. Exp. Morphol., 97, 95
Holm, 2007, Loss- and gain-of-function analyses reveal targets of Pax6 in the developing mouse telencephalon, Mol. Cell Neurosci., 34, 99, 10.1016/j.mcn.2006.10.008
Holst, 1997, A binding site for Pax proteins regulates expression of the gene for the neural cell adhesion molecule in the embryonic spinal cord, Proc. Natl. Acad. Sci. U.S.A., 94, 1465, 10.1073/pnas.94.4.1465
Holt, 1988, Cellular determination in the Xenopus retina is independent of lineage and birth date, Neuron, 1, 15, 10.1016/0896-6273(88)90205-X
Horsford, 2005, Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity, Development, 132, 177, 10.1242/dev.01571
Hsieh, 2009, Dynamic Pax6 expression during the neurogenic cell cycle influences proliferation and cell fate choices of retinal progenitors, Neural Dev., 4, 32, 10.1186/1749-8104-4-32
Hu, 1999, Retinal neurogenesis: the formation of the initial central patch of postmitotic cells, Dev. Biol., 207, 309, 10.1006/dbio.1998.9031
Huang, 2011, The mechanism of lens placode formation: a case of matrix-mediated morphogenesis, Dev. Biol., 355, 32, 10.1016/j.ydbio.2011.04.008
Huh, 1999, Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression, Dev. Biol., 211, 53, 10.1006/dbio.1999.9303
Hyer, 1998, FGF1 patterns the optic vesicle by directing the placement of the neural retina domain, Development, 125, 869, 10.1242/dev.125.5.869
Inoue, 2007, PAX6 and SOX2-dependent regulation of the Sox2 enhancer N-3 involved in embryonic visual system development, Genes Cells, 12, 1049, 10.1111/j.1365-2443.2007.01114.x
Inoue, 2002, Math3 and NeuroD regulate amacrine cell fate specification in the retina, Development, 129, 831, 10.1242/dev.129.4.831
Jadhav, 2006, Notch 1 inhibits photoreceptor production in the developing mammalian retina, Development, 133, 913, 10.1242/dev.02245
Jena, 1997, BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye, Exp. Cell Res., 230, 28, 10.1006/excr.1996.3411
Jeong, 2008, Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein, Nat. Genet., 40, 1348, 10.1038/ng.230
Jia, 2007, The Notch signaling pathway controls the size of the ocular lens by directly suppressing p57Kip2 expression, Mol. Cell Biol., 27, 7236, 10.1128/MCB.00780-07
Jun, 1996, Cooperative interactions between paired domain and homeodomain, Development, 122, 2639, 10.1242/dev.122.9.2639
Jun, 1998, Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition, Proc. Natl. Acad. Sci. U.S.A., 95, 13720, 10.1073/pnas.95.23.13720
Kagiyama, 2005, Extraocular dorsal signal affects the developmental fate of the optic vesicle and patterns the optic neuroepithelium, Dev. Growth Differ., 47, 523, 10.1111/j.1440-169X.2005.00828.x
Kallifatidis, 2011, The fate of dividing cells during lens morphogenesis, differentiation and growth, Exp. Eye Res., 92, 502, 10.1016/j.exer.2011.03.012
Kamachi, 1998, Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction, Development, 125, 2521, 10.1242/dev.125.13.2521
Kamachi, 2000, Pairing SOX off: with partners in the regulation of embryonic development, Trends Genet., 16, 182, 10.1016/S0168-9525(99)01955-1
Kamachi, 2001, Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development, Genes Dev., 15, 1272, 10.1101/gad.887101
Kammandel, 1999, Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity, Dev. Biol., 205, 79, 10.1006/dbio.1998.9128
Kanakubo, 2006, Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases, Genes Cells, 11, 919, 10.1111/j.1365-2443.2006.00992.x
Karl, 2010, Regenerative medicine for retinal diseases: activating endogenous repair mechanisms, Trends Mol. Med., 16, 193, 10.1016/j.molmed.2010.02.003
Kao, 1996, Keratin 12-deficient mice have fragile corneal epithelia, Invest. Ophthalmol. Vis. Sci., 37, 2572
Kawauchi, 1999, Regulation of lens fiber cell differentiation by transcription factor c-Maf, J. Biol. Chem., 274, 19254, 10.1074/jbc.274.27.19254
Kessel, 1990, Murine developmental control genes, Science, 249, 374, 10.1126/science.1974085
Kim, 2006, Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2, J. Biol. Chem., 281, 7489, 10.1074/jbc.M507227200
Kim, 2006, Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb, Dev. Biol., 292, 486, 10.1016/j.ydbio.2005.12.041
Kim, 2008, Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival, Dev. Biol., 313, 434, 10.1016/j.ydbio.2007.10.043
Kim, 2006, Hedgehog-regulated localization of Vax2 controls eye development, Genes Dev., 20, 2833, 10.1101/gad.1462706
Kleinjan, 2004, Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription, Dev. Biol., 265, 462, 10.1016/j.ydbio.2003.09.011
Kleinjan, 2006, Long-range downstream enhancers are essential for Pax6 expression, Dev. Biol., 299, 563, 10.1016/j.ydbio.2006.08.060
Kleinjan, 2001, Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6, Hum. Mol. Genet., 10, 2049, 10.1093/hmg/10.19.2049
Kleinjan, 2005, Long-range control of gene expression: emerging mechanisms and disruption in disease, Am. J. Hum. Genet., 76, 8, 10.1086/426833
Kokotas, 2010, Clinical and molecular aspects of aniridia, Clin. Genet., 77, 409, 10.1111/j.1399-0004.2010.01372.x
Koshiba-Takeuchi, 2000, Tbx5 and the retinotectum projection, Science, 287, 134, 10.1126/science.287.5450.134
Koso, 2006, SSEA-1 marks regionally restricted immature subpopulations of embryonic retinal progenitor cells that are regulated by the Wnt signaling pathway, Dev. Biol., 292, 265, 10.1016/j.ydbio.2005.09.051
Kozmik, 2005, Pax genes in eye development and evolution, Curr. Opin. Genet. Dev., 15, 430, 10.1016/j.gde.2005.05.001
Kralova, 2002, Complex regulatory element within the gammaE- and gammaF-crystallin enhancers mediates Pax6 regulation and is required for induction by retinoic acid, Gene, 286, 271, 10.1016/S0378-1119(02)00425-0
Krauss, 1991, Zebrafish pax[zf-a]: a paired box-containing gene expressed in the neural tube, EMBO J., 10, 3609, 10.1002/j.1460-2075.1991.tb04927.x
Kreslova, 2007, Abnormal lens morphogenesis and ectopic lens formation in the absence of beta-catenin function, Genesis, 45, 157, 10.1002/dvg.20277
Kubo, 2003, Wnt2b controls retinal cell differentiation at the ciliary marginal zone, Development, 130, 587, 10.1242/dev.00244
Kubo, 2005, Wnt2b inhibits differentiation of retinal progenitor cells in the absence of Notch activity by downregulating the expression of proneural genes, Development, 132, 2759, 10.1242/dev.01856
Kuwabara, 1974, Denucleation process of the lens, Invest. Ophthalmol. Vis. Sci., 13, 973
Lagutin, 2003, Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development, Genes Dev., 17, 368, 10.1101/gad.1059403
Lai, 2004, Notch signaling: control of cell communication and cell fate, Development, 131, 965, 10.1242/dev.01074
Lauderdale, 2000, 3’ deletions cause aniridia by preventing PAX6 gene expression, Proc. Natl. Acad. Sci. U.S.A., 97, 13755, 10.1073/pnas.240398797
Lavado, 2008, Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon, Development, 135, 441, 10.1242/dev.010082
Le, 2009, Jagged 1 is necessary for normal mouse lens formation, Dev. Biol., 328, 118, 10.1016/j.ydbio.2009.01.015
Leconte, 2004, Pax6 interacts with cVax and Tbx5 to establish the dorsoventral boundary of the developing eye, J. Biol. Chem., 279, 47272, 10.1074/jbc.M406624200
Lee, 2008, Aniridia: current pathology and management, Acta Ophthalmol., 86, 708, 10.1111/j.1755-3768.2008.01427.x
Lefebvre, 2002, O-glycosylation of the nuclear forms of Pax-6 products in quail neuroretina cells, J. Cell Biochem., 85, 208, 10.1002/jcb.10119
Leiper, 2009, Control of patterns of corneal innervation by Pax6, Invest. Ophthalmol. Vis. Sci., 50, 1122, 10.1167/iovs.08-2812
Li, 1997, A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate, Development, 124, 603, 10.1242/dev.124.3.603
Li, 1994, Pax-6 is first expressed in a region of ectoderm anterior to the early neural plate: implications for stepwise determination of the lens, Dev. Biol., 162, 181, 10.1006/dbio.1994.1077
Liu, 2003, Characterization of Wnt signaling components and activation of the Wnt canonical pathway in the murine retina, Dev. Dyn., 227, 323, 10.1002/dvdy.10315
Liu, 2006, Mapping canonical Wnt signaling in the developing and adult retina, Invest. Ophthalmol. Vis. Sci., 47, 5088, 10.1167/iovs.06-0403
Liu, 2007, Ciliary margin transdifferentiation from neural retina is controlled by canonical Wnt signaling, Dev. Biol., 308, 54, 10.1016/j.ydbio.2007.04.052
Liu, 1994, Developmental expression of a novel murine homeobox gene (Chx10): evidence for roles in determination of the neuroretina and inner nuclear layer, Neuron, 13, 377, 10.1016/0896-6273(94)90354-9
Liu, 2010, Neuroretina specification in mouse embryos requires Six3-mediated suppression of Wnt8b in the anterior neural plate, J. Clin. Invest., 120, 3568, 10.1172/JCI43219
Liu, 2006, Six3 activation of Pax6 expression is essential for mammalian lens induction and specification, EMBO J., 25, 5383, 10.1038/sj.emboj.7601398
Loosli, 2003, Loss of eyes in zebrafish caused by mutation of chokh/rx3, EMBO Rep., 4, 894, 10.1038/sj.embor.embor919
Lord-Grignon, 2006, Identification of genes expressed in retinal progenitor/stem cell colonies isolated from the ocular ciliary body of adult mice, Gene Expr. Patterns, 6, 992, 10.1016/j.modgep.2006.04.003
Lovicu, 2011, Understanding the role of growth factors in embryonic development: insights from the lens, Philos. Trans. R. Soc. Lond. B Biol. Sci., 366, 1204, 10.1098/rstb.2010.0339
Luo, 1995, BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning, Genes Dev., 9, 2808, 10.1101/gad.9.22.2808
Macatee, 2003, Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development, Development, 130, 6361, 10.1242/dev.00850
Macdonald, 1997, Distribution of Pax6 protein during eye development suggests discrete roles in proliferative and differentiated visual cells, Dev. Genes. Evol., 363, 10.1007/s004270050065
Machon, 2010, Lens morphogenesis is dependent on Pax6-mediated inhibition of the canonical Wnt/beta-catenin signaling in the lens surface ectoderm, Genesis, 48, 86
Maekawa, 2005, Pax6 is required for production and maintenance of progenitor cells in postnatal hippocampal neurogenesis, Genes Cells, 10, 1001, 10.1111/j.1365-2443.2005.00893.x
Mann, 2002, Molecular mechanisms of selector gene function and evolution, Curr. Opin. Genet. Dev., 12, 592, 10.1016/S0959-437X(02)00344-1
Manuel, 2008, Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance, BMC Dev. Biol., 8, 59, 10.1186/1471-213X-8-59
Marquardt, 2001, Pax6 is required for the multipotent state of retinal progenitor cells, Cell, 105, 43, 10.1016/S0092-8674(01)00295-1
Martin, 1992, Characterization of a paired box- and homeobox-containing quail gene (Pax-QNR) expressed in the neuroretina, Oncogene, 7, 1721
Martinez-Morales, 2001, Otx genes are required for tissue specification in the developing eye, Development, 128, 2019, 10.1242/dev.128.11.2019
Martinez-Morales, 2009, Shaping the vertebrate eye, Curr. Opin. Genet. Dev., 19, 511, 10.1016/j.gde.2009.08.003
Martinez, 2010, The lens epithelium in ocular health and disease, Int. J. Biochem. Cell Biol., 42, 1945, 10.1016/j.biocel.2010.09.012
Martinez, 2003, Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho, J. Cell Biol., 162, 99, 10.1083/jcb.200211025
Mathers, 1997, The Rx homeobox gene is essential for vertebrate eye development, Nature, 387, 603, 10.1038/42475
Medina-Martinez, 2009, Cell-autonomous requirement for rx function in the mammalian retina and posterior pituitary, PLoS One, 4, e4513, 10.1371/journal.pone.0004513
Mikkola, 1999, Phosphorylation of the transactivation domain of Pax6 by extracellular signal-regulated kinase and p38 mitogen-activated protein kinase, J. Biol. Chem., 274, 15115, 10.1074/jbc.274.21.15115
Mikkola, 2001, Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins, J. Biol. Chem., 276, 4109, 10.1074/jbc.M008882200
Mishra, 2002, PAX6, paired domain influences sequence recognition by the homeodomain, J. Biol. Chem., 277, 49488, 10.1074/jbc.M206478200
Morrow, 1998, Two phases of rod photoreceptor differentiation during rat retinal development, J. Neurosci., 18, 3738, 10.1523/JNEUROSCI.18-10-03738.1998
Mort, 2011, Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis, PLoS One, 6, e28895, 10.1371/journal.pone.0028895
Mui, 2002, The homeodomain protein Vax2 patterns the dorsoventral and nasotemporal axes of the eye, Development, 129, 797, 10.1242/dev.129.3.797
Mui, 2005, Vax genes ventralize the embryonic eye, Genes Dev., 19, 1249, 10.1101/gad.1276605
Muller, 2007, Bone morphogenetic proteins specify the retinal pigment epithelium in the chick embryo, Development, 134, 3483, 10.1242/dev.02884
Mumm, 2005, Laminar circuit formation in the vertebrate retina, Prog. Brain Res., 147, 155, 10.1016/S0079-6123(04)47012-5
Nakayama, 1998, Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently, Mech. Dev., 70, 155, 10.1016/S0925-4773(97)00188-3
Nakayama, 2008, Fgf19 is required for zebrafish lens and retina development, Dev. Biol., 313, 752, 10.1016/j.ydbio.2007.11.013
Nguyen, 2000, Signaling and transcriptional regulation in early mammalian eye development: a link between FGF and MITF, Development, 127, 3581, 10.1242/dev.127.16.3581
Ninkovic, 2010, The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin alphaA, Neuron, 68, 682, 10.1016/j.neuron.2010.09.030
Nishida, 1995, Ocular surface abnormalities in aniridia, Am. J. Ophthalmol., 120, 368, 10.1016/S0002-9394(14)72167-1
Nishimoto, 2003, Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens, Nature, 424, 1071, 10.1038/nature01895
Numayama-Tsuruta, 2010, Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain, BMC Dev. Biol., 10, 6, 10.1186/1471-213X-10-6
Ochocinska, 2009, NeuroD regulates proliferation of photoreceptor progenitors in the retina of the zebrafish, Mech. Dev., 126, 128, 10.1016/j.mod.2008.11.009
Ogino, 2008, Convergence of a head-field selector Otx2 and Notch signaling: a mechanism for lens specification, Development, 135, 249, 10.1242/dev.009548
Ohsawa, 2008, Regulation of retinal cell fate specification by multiple transcription factors, Brain Res., 1192, 90, 10.1016/j.brainres.2007.04.014
Opdecamp, 1997, Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor, Development, 124, 2377, 10.1242/dev.124.12.2377
Ou, 2010, Cytoskeletal and cell adhesion defects in wounded and Pax6+/- corneal epithelia, Invest. Ophthalmol. Vis. Sci., 51, 1415, 10.1167/iovs.09-4023
Oron-Karni, 2008, Dual requirement for Pax6 in retinal progenitor cells, Development, 135, 4037, 10.1242/dev.028308
Osumi, 2008, Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator, Stem Cells, 26, 1663, 10.1634/stemcells.2007-0884
Ouchi, 2011, beta-Catenin signaling regulates the timing of cell differentiation in mouse retinal progenitor cells, Mol. Cell Neurosci., 46, 770, 10.1016/j.mcn.2011.02.010
Pan, 2006, Heparan sulfate biosynthetic gene Ndst1 is required for FGF signaling in early lens development, Development, 133, 4933, 10.1242/dev.02679
Pandit, 2011, BMP-induced L-Maf regulates subsequent BMP-independent differentiation of primary lens fibre cells, Dev. Dyn., 240, 1917, 10.1002/dvdy.22692
Paz, 2011, SPIKE: a database of highly curated human signaling pathways, Nucleic Acids Res., 39, D793, 10.1093/nar/gkq1167
Philips, 2005, Precocious retinal neurons: Pax6 controls timing of differentiation and determination of cell type, Dev. Biol., 279, 308, 10.1016/j.ydbio.2004.12.018
Piatigorsky, 1981, Lens differentiation in vertebrates. A review of cellular and molecular features, Differentiation, 19, 134, 10.1111/j.1432-0436.1981.tb01141.x
Pinson, 2005, Regulation of the Pax6: Pax6(5a) mRNA ratio in the developing mammalian brain, BMC Dev. Biol., 5, 13, 10.1186/1471-213X-5-13
Pittack, 1997, Fibroblast growth factors are necessary for neural retina but not pigmented epithelium differentiation in chick embryos, Development, 124, 805, 10.1242/dev.124.4.805
Plageman, 2010, Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination, Development, 137, 405, 10.1242/dev.045369
Plaza, 1995, Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene, Mol. Cell Biol., 15, 892, 10.1128/MCB.15.2.892
Plaza, 1995, Quail Pax-6 (Pax-QNR) mRNAs are expressed from two promoters used differentially during retina development and neuronal differentiation, Mol. Cell Biol., 15, 3344, 10.1128/MCB.15.6.3344
Pontoriero, 2009, Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival, Dev. Biol., 326, 403, 10.1016/j.ydbio.2008.10.011
Porter, 1997, Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development, Development, 124, 2935, 10.1242/dev.124.15.2935
Quinn, 2007, Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism, Dev. Biol., 302, 50, 10.1016/j.ydbio.2006.08.035
Quinn, 1996, Multiple functions for Pax6 in mouse eye and nasal development, Genes Dev., 10, 435, 10.1101/gad.10.4.435
Quiring, 1994, Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans, Science, 265, 785, 10.1126/science.7914031
Rafferty, 1981, Cell population kinetics of the mouse lens epithelium, J. Cell Physiol., 107, 309, 10.1002/jcp.1041070302
Rajagopal, 2009, The type I BMP receptors, Bmpr1a and Acvr1, activate multiple signaling pathways to regulate lens formation, Dev. Biol., 335, 305, 10.1016/j.ydbio.2009.08.027
Ramaesh, 2003, Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy, Invest. Ophthalmol. Vis. Sci., 44, 1871, 10.1167/iovs.02-0576
Rapaport, 1996, Spatiotemporal gradients of cell genesis in the primate retina, Perspect. Dev. Neurobiol., 3, 147
Rapaport, 2004, Timing and topography of cell genesis in the rat retina, J. Comp. Neurol., 474, 304, 10.1002/cne.20134
Reese, 2011, Development of the retina and optic pathway, Vision Res., 51, 613, 10.1016/j.visres.2010.07.010
Rembold, 2006, Individual cell migration serves as the driving force for optic vesicle evagination, Science, 313, 1130, 10.1126/science.1127144
Riesenberg, 2009, Pax6 regulation of Math5 during mouse retinal neurogenesis, Genesis, 47, 175, 10.1002/dvg.20479
Riesenberg, 2009, Rbpj cell autonomous regulation of retinal ganglion cell and cone photoreceptor fates in the mouse retina, J. Neurosci., 29, 12865, 10.1523/JNEUROSCI.3382-09.2009
Roberts, 1967, Small eyes – a new dominant mutation in the mouse, Genetic Res. Camb., 9, 121, 10.1017/S0016672300010387
Rowan, 2004, Genetic analysis of the homeodomain transcription factor Chx10 in the retina using a novel multifunctional BAC transgenic mouse reporter, Dev. Biol., 271, 388, 10.1016/j.ydbio.2004.03.039
Rowan, 2004, Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10, Development, 131, 5139, 10.1242/dev.01300
Rowan, 2008, Notch signaling regulates growth and differentiation in the mammalian lens, Dev. Biol., 321, 111, 10.1016/j.ydbio.2008.06.002
Rowan, 2010, Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity, Genes Dev., 24, 980, 10.1101/gad.1890410
Rungger-Brandle, 2010, Retinal patterning by Pax6-dependent cell adhesion molecules, Dev. Neurobiol., 70, 764, 10.1002/dneu.20816
Rush, 1926, Congenital Aniridia, Trans. Am. Ophthalmol. Soc., 24, 332
Saha, 1989, Embryonic lens induction: more than meets the optic vesicle, Cell Differ. Dev., 28, 153, 10.1016/0922-3371(89)90001-4
Sansom, 2009, The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis, PLoS Genet., 5, e1000511, 10.1371/journal.pgen.1000511
Sakagami, 2009, Distinct effects of Hedgehog signaling on neuronal fate specification and cell cycle progression in the embryonic mouse retina, J. Neurosci., 29, 6932, 10.1523/JNEUROSCI.0289-09.2009
Saravanamuthu, 2009, Notch signaling is required for lateral induction of Jagged1 during FGF-induced lens fiber differentiation, Dev. Biol., 332, 166, 10.1016/j.ydbio.2009.05.566
Schedl, 1996, Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities, Cell, 86, 71, 10.1016/S0092-8674(00)80078-1
Schulte, 1999, Misexpression of the Emx-related homeobox genes cVax and mVax2 ventralizes the retina and perturbs the retinotectal map, Neuron, 24, 541, 10.1016/S0896-6273(00)81111-3
Schwarz, 1999, Pax2/5 and Pax6 subdivide the early neural tube into three domains, Mech. Dev., 82, 29, 10.1016/S0925-4773(99)00005-2
Secker, 2008, Corneal epithelial stem cells: deficiency and regulation, Stem Cell Rev., 4, 159, 10.1007/s12015-008-9029-x
Selbach, 2008, Widespread changes in protein synthesis induced by microRNAs, Nature, 455, 58, 10.1038/nature07228
Shaham, 2009, Pax6 is essential for lens fiber cell differentiation, Development, 136, 2567, 10.1242/dev.032888
Shalom-Feuerstein, 2012, Pluripotent stem cell model reveals essential roles for miR-450b-5p and miR-184 in embryonic corneal lineage specification, Stem Cells, 30, 898, 10.1002/stem.1068
Shimizu, 2009, Pax6-5a promotes neuronal differentiation of murine embryonic stem cells, Biol. Pharm. Bull., 32, 999, 10.1248/bpb.32.999
Simola, 1983, Familial aniridia and translocation t(4;11)(q22;p13) without Wilms’ tumor, Hum. Genet., 63, 158, 10.1007/BF00291536
Simpson, 2002, Pax6; a pleiotropic player in development, Bioessays, 24, 1041, 10.1002/bies.10174
Singh, 2002, Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform, Proc. Natl. Acad. Sci. U.S.A., 99, 6812, 10.1073/pnas.102691299
Singh, 2000, Modulation of PAX6 homeodomain function by the paired domain, J. Biol. Chem., 275, 17306, 10.1074/jbc.M000359200
Singh, 1998, Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants, J. Biol. Chem., 273, 21531, 10.1074/jbc.273.34.21531
Sjodal, 2007, Time of exposure to BMP signals plays a key role in the specification of the olfactory and lens placodes ex vivo, Dev. Cell, 13, 141, 10.1016/j.devcel.2007.04.020
Slattery, 2011, Cofactor binding evokes latent differences in DNA binding specificity between Hox proteins, Cell, 147, 1270, 10.1016/j.cell.2011.10.053
Smith, 2009, Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis, Development, 136, 2977, 10.1242/dev.037341
Smith, 2005, The duality of beta-catenin function: a requirement in lens morphogenesis and signaling suppression of lens fate in periocular ectoderm, Dev. Biol., 285, 477, 10.1016/j.ydbio.2005.07.019
Smith, 2010, Which FGF ligands are involved in lens induction?, Dev. Biol., 337, 195, 10.1016/j.ydbio.2009.11.009
Song, 2009, Functions of the intermediate filament cytoskeleton in the eye lens, J. Clin. Invest, 119, 1837, 10.1172/JCI38277
Spemann, 1901, Uber Correlationen in der Entwickelung des Auges, Verh. Anat. Ges., 15, 61
St-Onge, 1997, Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas, Nature, 387, 406, 10.1038/387406a0
Stiemke, 1995, Cell birthdays in Xenopus laevis retina, Differentiation, 58, 189, 10.1046/j.1432-0436.1995.5830189.x
Stigloher, 2006, Segregation of telencephalic and eye-field identities inside the zebrafish forebrain territory is controlled by Rx3, Development, 133, 2925, 10.1242/dev.02450
Stoykova, 1997, Pax6-dependent regulation of adhesive patterning, R-cadherin expression and boundary formation in developing forebrain, Development, 124, 3765, 10.1242/dev.124.19.3765
Strauss, 2005, The retinal pigment epithelium in visual function, Physiol. Rev., 85, 845, 10.1152/physrev.00021.2004
Streit, 2007, The preplacodal region: an ectodermal domain with multipotential progenitors that contribute to sense organs and cranial sensory ganglia, Int. J. Dev. Biol., 51, 447, 10.1387/ijdb.072327as
Sturtevant, 1951, A map of the fourth chromosome of Drosophila melanogaster, based on crossing over in triploid females, Proc. Natl. Acad. Sci. U.S.A., 37, 405, 10.1073/pnas.37.7.405
Sugiyama, 2010, Secreted frizzled-related protein disrupts PCP in eye lens fiber cells that have polarised primary cilia, Dev. Biol., 338, 193, 10.1016/j.ydbio.2009.11.033
Sullivan, 2004, A re-examination of lens induction in chicken embryos: in vitro studies of early tissue interactions, Int. J. Dev. Biol., 48, 771, 10.1387/ijdb.041894cs
Sun, 2006, Retinal stem/progenitor properties of iris pigment epithelial cells, Dev. Biol., 289, 243, 10.1016/j.ydbio.2005.10.035
Suzuki, 2000, Identification of RALDH-3, a novel retinaldehyde dehydrogenase, expressed in the ventral region of the retina, Mech. Dev., 98, 37, 10.1016/S0925-4773(00)00450-0
Svoboda, 1987, An analysis of cell shape and the neuroepithelial basal lamina during optic vesicle formation in the mouse embryo, Development, 100, 185, 10.1242/dev.100.2.185
Swain, 1997, Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration, Neuron, 19, 1329, 10.1016/S0896-6273(00)80423-7
Tamai, 2007, Pax6 transcription factor is required for the interkinetic nuclear movement of neuroepithelial cells, Genes Cells, 12, 983, 10.1111/j.1365-2443.2007.01113.x
Tang, 1998, Dissection of the transactivation function of the transcription factor encoded by the eye developmental gene PAX6, J. Biol. Chem., 273, 7210, 10.1074/jbc.273.13.7210
Tassabehji, 1994, Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene, Nat. Genet., 8, 251, 10.1038/ng1194-251
Tetreault, 2009, The LIM homeobox transcription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation, Dev. Biol., 327, 541, 10.1016/j.ydbio.2008.12.022
Ton, 1991, Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region, Cell, 67, 1059, 10.1016/0092-8674(91)90284-6
Trainor, 1995, Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches, Development, 121, 2569, 10.1242/dev.121.8.2569
Treisman, 1991, The paired box encodes a second DNA-binding domain in the paired homeo domain protein, Genes Dev., 5, 594, 10.1101/gad.5.4.594
Tropepe, 2000, Retinal stem cells in the adult mammalian eye, Science, 287, 2032, 10.1126/science.287.5460.2032
Tuoc, 2008, Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system, Genes Dev., 22, 1972, 10.1101/gad.471708
Turner, 1987, A common progenitor for neurons and glia persists in rat retina late in development, Nature, 328, 131, 10.1038/328131a0
Turner, 1990, Lineage-independent determination of cell type in the embryonic mouse retina, Neuron, 4, 833, 10.1016/0896-6273(90)90136-4
Tyas, 2006, Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse, BMC Dev. Biol., 6, 21, 10.1186/1471-213X-6-21
Tzoulaki, 2005, PAX6 mutations: genotype–phenotype correlations, BMC Genet., 6, 27, 10.1186/1471-2156-6-27
van der Meer-de Jong, 1990, Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2), Genomics, 7, 270, 10.1016/0888-7543(90)90550-E
van Raamsdonk, 2000, Dosage requirement and allelic expression of PAX6 during lens placode formation, Development, 127, 5439, 10.1242/dev.127.24.5439
Van Vactor, 1998, Genetic analysis of protein tyrosine phosphatases, Curr. Opin. Genet. Dev., 8, 112, 10.1016/S0959-437X(98)80070-1
Viczian, 2009, Generation of functional eyes from pluripotent cells, PLoS Biol., 7, e1000174, 10.1371/journal.pbio.1000174
Vincent, 2004, Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia, Am. J. Ophthalmol., 138, 1016, 10.1016/j.ajo.2004.08.003
Visel, 2007, Regulatory pathway analysis by high-throughput in situ hybridization, PLoS Genet., 3, 1867, 10.1371/journal.pgen.0030178
Vogel-Hopker, 2000, Multiple functions of fibroblast growth factor-8 (FGF-8) in chick eye development, Mech. Dev., 94, 25, 10.1016/S0925-4773(00)00320-8
Wall, 2009, Progenitor cell proliferation in the retina is dependent on Notch-independent Sonic hedgehog/Hes1 activity, J. Cell. Biol., 184, 101, 10.1083/jcb.200805155
Wallace, 2008, Proliferative and cell fate effects of Hedgehog signaling in the vertebrate retina, Brain Res., 1192, 61, 10.1016/j.brainres.2007.06.018
Walther, 1991, Pax-6, a murine paired box gene, is expressed in the developing CNS, Development, 113, 1435, 10.1242/dev.113.4.1435
Walther, 1991, Pax: a murine multigene family of paired box-containing genes, Genomics, 11, 424, 10.1016/0888-7543(91)90151-4
Wang, 2005, Retinal ganglion cell-derived sonic hedgehog locally controls proliferation and the timing of RGC development in the embryonic mouse retina, Development, 132, 5103, 10.1242/dev.02096
Warren, 1999, The transcription factor, Pax6, is required for cell proliferation and differentiation in the developing cerebral cortex, Cereb. Cortex, 9, 627, 10.1093/cercor/9.6.627
Warren, 1997, Roles of Pax-6 in murine diencephalic development, Development, 124, 1573, 10.1242/dev.124.8.1573
Wawersik, 1999, BMP7 acts in murine lens placode development, Dev. Biol., 207, 176, 10.1006/dbio.1998.9153
Westenskow, 2009, Beta-catenin controls differentiation of the retinal pigment epithelium in the mouse optic cup by regulating Mitf and Otx2 expression, Development, 136, 2505, 10.1242/dev.032136
Wetts, 1989, Cell lineage analysis reveals multipotent precursors in the ciliary margin of the frog retina, Dev. Biol., 136, 254, 10.1016/0012-1606(89)90146-2
Wigle, 1999, Prox1 function is crucial for mouse lens-fibre elongation, Nat. Genet., 21, 318, 10.1038/6844
Williams, 1998, A highly conserved lens transcriptional control element from the Pax-6 gene, Mech. Dev., 73, 225, 10.1016/S0925-4773(98)00057-4
Wilson, 1993, Cooperative dimerization of paired class homeo domains on DNA, Genes Dev., 7, 2120, 10.1101/gad.7.11.2120
Wilson, 1995, High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA, Cell, 82, 709, 10.1016/0092-8674(95)90468-9
Wolf, 2009, Identification of pax6-dependent gene regulatory networks in the mouse lens, PLoS One, 4, e4159, 10.1371/journal.pone.0004159
Wong, 2009, Defining retinal progenitor cell competence in Xenopus laevis by clonal analysis, Development, 136, 1707, 10.1242/dev.027607
Xie, 2011, The orchestration of mammalian tissue morphogenesis through a series of coherent feed forward loops, J. Biol. Chem., 286, 43259, 10.1074/jbc.M111.264580
Xu, 1999, Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding, Genes Dev., 13, 1263, 10.1101/gad.13.10.1263
Xu, 1999, Regulation of Pax6 expression is conserved between mice and flies, Development, 126, 383, 10.1242/dev.126.2.383
Xu, 2007, The proliferation and expansion of retinal stem cells require functional Pax6, Dev. Biol., 304, 713, 10.1016/j.ydbio.2007.01.021
Xu, 1995, Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations, Cell, 80, 639, 10.1016/0092-8674(95)90518-9
Xu, 1997, Transcriptional regulation of the human PAX6 gene promoter, J. Biol. Chem., 272, 3430, 10.1074/jbc.272.6.3430
Yamada, 2003, Cell-autonomous involvement of Mab21l1 is essential for lens placode development, Development, 130, 1759, 10.1242/dev.00399
Yamasaki, 2001, Pax6 regulates granule cell polarization during parallel fiber formation in the developing cerebellum, Development, 128, 3133, 10.1242/dev.128.16.3133
Yan, 2010, Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development, Proc. Natl. Acad. Sci. U.S.A., 107, 21034, 10.1073/pnas.1007866107
Yan, 2007, Protein phosphatase-1 modulates the function of Pax-6, a transcription factor controlling brain and eye development, J. Biol. Chem., 282, 13954, 10.1074/jbc.M611476200
Yang, 2005, Tissue-specific regulation of the mouse alphaA-crystallin gene in lens via recruitment of Pax6 and c-Maf to its promoter, J. Mol. Biol., 351, 453, 10.1016/j.jmb.2005.05.072
Yang, 2010, Efficient generation of lens progenitor cells and lentoid bodies from human embryonic stem cells in chemically defined conditions, FASEB J., 24, 3274, 10.1096/fj.10-157255
Yaron, 2006, Notch1 functions to suppress cone-photoreceptor fate specification in the developing mouse retina, Development, 133, 1367, 10.1242/dev.02311
Yoshimoto, 2005, Regulation of ocular lens development by Smad-interacting protein 1 involving Foxe3 activation, Development, 132, 4437, 10.1242/dev.02022
Young, 1985, Cell differentiation in the retina of the mouse, Anat. Rec., 212, 199, 10.1002/ar.1092120215
Yuasa, 1996, Visual projection map specified by topographic expression of transcription factors in the retina, Nature, 382, 632, 10.1038/382632a0
Yun, 2009, Lhx2 links the intrinsic and extrinsic factors that control optic cup formation, Development, 136, 3895, 10.1242/dev.041202
Zaccarini, 2007, Pax6p46 binds chromosomes in the pericentromeric region and induces a mitosis defect when overexpressed, Invest. Ophthalmol. Vis. Sci., 48, 5408, 10.1167/iovs.07-0413
Zaghloul, 2007, Alterations of rx1 and pax6 expression levels at neural plate stages differentially affect the production of retinal cell types and maintenance of retinal stem cell qualities, Dev. Biol., 306, 222, 10.1016/j.ydbio.2007.03.017
Zaghloul, 2007, Changes in Rx1 and Pax6 activity at eye field stages differentially alter the production of amacrine neurotransmitter subtypes in Xenopus, Mol. Vis., 13, 86
Zhang, 2000, Function of Rx, but not Pax6 is essential for the formation of retinal progenitor cells in mice, Genesis, 28, 135, 10.1002/1526-968X(200011/12)28:3/4<135::AID-GENE70>3.0.CO;2-P
Zhang, 2001, Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina, Mol. Vis., 7, 1
Zhang, 2002, Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis, Genes. Dev., 16, 2097, 10.1101/gad.1007602
Zhang, 2010, Pax6 is a human neuroectoderm cell fate determinant, Cell Stem Cell, 7, 90, 10.1016/j.stem.2010.04.017
Zhang, 2010, The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6, J. Biol. Chem., 285, 2527, 10.1074/jbc.M109.022236
Zhao, 2008, Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation, Dev. Biol., 318, 276, 10.1016/j.ydbio.2008.03.028
Zhao, 2004, Insertion of a Pax6 consensus binding site into the alphaA-crystallin promoter acts as a lens epithelial cell enhancer in transgenic mice, Invest. Ophthalmol. Vis. Sci., 45, 1930, 10.1167/iovs.03-0856
Zhao, 2001, Patterning the optic neuroepithelium by FGF signaling and Ras activation, Development, 128, 5051, 10.1242/dev.128.24.5051
Zhou, 2006, A hierarchy of proliferative cells exists in mouse lens epithelium: implications for lens maintenance, Invest. Ophthalmol. Vis. Sci., 47, 2997, 10.1167/iovs.06-0130
Zhou, 2000, A novel Pax-6 binding site in rodent B1 repetitive elements: coevolution between developmental regulation and repeated elements?, Gene, 245, 319, 10.1016/S0378-1119(00)00019-6
Zhou, 2002, Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation, Genome Res., 12, 1716, 10.1101/gr.188302
Zuber, 2010, Eye field specification in Xenopus laevis, Curr. Top. Dev. Biol., 93, 29, 10.1016/B978-0-12-385044-7.00002-3
Zuber, 2003, Specification of the vertebrate eye by a network of eye field transcription factors, Development, 130, 5155, 10.1242/dev.00723