Gene networks: Dissecting pathways in retinal development and disease

Progress in Retinal and Eye Research

Volumn 33, Issue 1, 2013, Pages 40-66

  Gregory Evans, Cheryl ^a   Wallace, Valerie A ^b,c   Gregory Evans, Kevin ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Development; Gene network; Photoreceptors; Retina; Retinal neurogenesis; Stem cells

Indexed keywords

ANKYRIN; BETA CATENIN; CONE OPSIN; CYTOCHROME P450 1B1; EPHRIN A3; EPHRIN A5; FIBROBLAST GROWTH FACTOR RECEPTOR 1; HOMEODOMAIN PROTEIN; INTERCELLULAR ADHESION MOLECULE 1; MATH5 PROTEIN; NOTCH RECEPTOR; ORPHAN NUCLEAR RECEPTOR; PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR 2; WNT PROTEIN;

ANIRIDIA; APOPTOSIS; CELL CYCLE PROGRESSION; CELL DEATH; CELL DIFFERENTIATION; CELL FATE; CELL MATURATION; CELL PROLIFERATION; CHOROID; CILIARY BODY EPITHELIUM; COLOBOMA; DIFFERENTIATION; EYE DEVELOPMENT; GENE REPLACEMENT THERAPY; HEDGEHOG; HUMAN; HYPOPLASIA; LEBER CONGENITAL AMAUROSIS; MICROPHTHALMIA; NERVOUS SYSTEM DEVELOPMENT; NONSENSE MEDIATED MRNA DECAY; NORRIE DISEASE; OPTIC CHIASM; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGENERATIVE MEDICINE; REGULATOR GENE; RETINA AMACRINE CELL; RETINA BIPOLAR GANGLION CELL; RETINA COLOBOMA; RETINA DETACHMENT; RETINA DEVELOPMENT; RETINA DISEASE; RETINA DYSTROPHY; RETINA FOVEA; RETINA GANGLION CELL; RETINITIS PIGMENTOSA; RETINOPATHY; RETROLENTAL FIBROPLASIA; REVIEW; SIGNAL TRANSDUCTION; VISUAL IMPAIRMENT; WNT SIGNALING PATHWAY;

GENE REGULATORY NETWORKS; HUMANS; NEUROGENESIS; PHOTORECEPTOR CELLS, VERTEBRATE; RETINA; RETINAL DISEASES; TRANSCRIPTION FACTORS;

EID: 84873465806     PISSN: 13509462     EISSN: 18731635     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2012.10.003     Document Type: Review

References (438)

1. Acampora D., Mazan S., Avantaggiato V., Barone P., Tuorto F., Lallemand Y., Brûlet P., Simeone A. Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nat. Genet. 1996, 14:218-222.
2. Acampora D., Avantaggiato V., Tuorto F., Barone P., Reichert H., Finskelstein R., Simeone A. Murine Otx1 and Drosophila otd genes share conserved genetic functions required in invertebrate and vertebrate brain development. Development 1998, 125:1691-1702.
3. Adler R.A., Canto-Soler M.V. Molecular mechanisms of optic vesicle development: complexities, ambiguities and controversies. Dev. Biol. 2007, 305:1-13.
4. Agathocleous M., Locker M., Harris W.A., Perron M. A general role of hedgehog in the regulation of proliferation. Cell Cycle 2007, 6:156-159.
5. Agathocleous M., Harris W.A. From progenitors to differentiated cells in the vertebrate retina. Annu. Rev. Cell. Dev. Biol. 2009, 25:45-69.
6. Amato M.A., Boy S., Perron M. Hedgehog signaling in vertebrate eye development: a growing puzzle. Cell. Mol. Life Sci. 2004, 61:899-910.
7. Anchan R.M., Reh T.A., Angello J., Balliet A., Walker M. EGF and TGF-α stimulate retinal neuroepithelial cell proliferation in vitro. Neuron 1991, 6:923-936.
8. Azuma N., Hirakiyama A., Inoue T., Asaka A., Yamada M. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and anterior segment anomilies. Hum. Mol. Genet. 2000, 9:363-366.
9. 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. 2003, 72:1565-1570.
10. Bae D., Mondragon-Teran P., Hernandez D., Ruben L., Mason C., Bhattacharya S.S., Veraitch F.S. Hypoxia enhances the generation of retinal progenitor cells from human induced pluripotent and embryonic stem cells. Stem Cells Dev. 2012, 21:1344-1355.
11. Bai S.W., Li B., Zhang H., Jonas J.B., Zhao B.-W., Shen L., Wang Y.C. Pax6 regulates proliferation and apoptosis of human retinoblastoma cells. Invest. Ophthalmol. Vis. Sci. 2011, 52:4560-4570.
12. Barbieri A.M., Broccoli V., Bovolenta P., Alfano G., Marchitirllo A., Mocchetti C., Crippa L., Bulfone A., Marigo V., Ballabio A., Banfi S. Vax2 inactivation in mouse determines alteration of the dorso-ventral axis, misrouting of the optic fibres and eye coloboma. Development 2002, 129:805-813.
13. Bao Z.-Z., Cepko C.L. The expression and function of Notch pathway genes in the developing rat eye. J. Neurosci. 1997, 17:1425-1434.
14. Bassett E.A., Williams T., Zacharias A.L., Gage P.J., Fuhrmann S., West-Mays J.A. AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. Hum. Mol. Genet. 2010, 19:1791-1804.
15. Baumer N., Marquardt T., Stoykova A., Ashery-Padan R., Chowdhury K., Gruss P. Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle. Development 2002, 129:4535-4545.
16. Behesti H., Papaioannou V.E., Sowden J.C. Loss of Tbx2 delays optic vesicle invagination leading to small optic cups. Dev. Biol. 2009, 333:360-372.
17. Berger W., Meindl A., van de Pol T.J., Cremers F.P., Ropers H.H., Doerner C., Monaco A., Bergen A.A., Lebo R., Warburg M. Isolation of a candidate gene for Norrie disease by positional cloning. Nat. Genet. 1992, 1:199-203.
18. Bernardos R.L., Lentz S.I., Wolfe M.S., Raymond P.A. Notch-Delta signaling is required for spatial patterning and Muller glia differentiation in the zebrafish retina. Dev. Biol. 2005, 278:381-395.
19. Bernstein S.L., Borst D.E., Neuder M.E., Wong P.W. Characterization of a human fovea cDNA library and regional differential gene expression in human retina. Genomics 1996, 32:301-308.
20. Berry F.B., Lines M.A., Oas J.M., Footz T., Underhill D.A., Gage P.J., Walter M.A. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. J. Biol. Chem. 2006, 281:10098-10104.
21. Berry F.B., Skarie J.M., Mirzayans F., Fortin Y., Hudson T.J., Raymond V., Link B.A., Walter M.A. FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXOA1. Hum. Mol. Genet. 2008, 17:490-505.
22. Bessa J., Tavares M.J., Santos J., Kikuta H., Laplante M., Becker T.S., Gómez-Skarmeta J.L., Casares F. Meis1 regulates cyclinD1 and c-myc expression, and controls the proliferation of the multipotent cells in the early developing zebrafish eye. Development 2008, 135:799-803.
23. Bessant D.A., Payne A.M., Mitton K.P., Wang Q.L., Swain P.K., Plant C., Bird A.C., Zack D.J., Swaroop A., Bhattacharya S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat. Genet. 1999, 21:355-356.
24. Beug S.T., Parks R.J., McBride H.M., Wallace V.A. Processing-dependent trafficking of sonic hedgehog to the regulated secretory pathway in neurons. Mol. Cell. Neurosci. 2011, 46:583-596.
25. Bibb L.C., Holt J.K., Tarttelin E.E., Hodges M.D., Gregory-Evans K., Rutherford A., Lucas R.J., Sowden J.C., Gregory-Evans C.Y. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Hum. Mol. Genet. 2001, 10:1571-1579.
26. Black G.C., Perveen R., Bonshek R., Cahill M., Clayton-Smith J., Lloyd C.I., McLeod D. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. Hum. Mol. Genet. 1999, 8:2031-2035.
27. Blackshaw S., Harpavat S., Trimarchi J., Cai L., Huang H., Kuo W.P., Weber G., Lee K., Fraioli R.E., Cho S.H., Yung R., Asch E., Ohne-Machado L., Wong W.H., Cepko C.L. Genomic analysis of mouse retinal development. PLoS Biol. 2004, 2:e247.
28. Bohnsack B.L., Kasprick D.S., Kish P.E., Goldman D., Kahana A. A zebrafish model of Axenfeld-Rieger syndrome reveals that pitx2 regulation by retinoic acid is essential for ocular and craniofacial development. Invest. Ophthalmol. Vis.Sci. 2012, 53:7-22.
29. Boon C.J., Jeroen-Klevering B., Keunen J.E., Hoyng C.B., Theelen T. Fundus autofluorescence imaging of retinal dystrophies. Vis. Res. 2008, 48:2569-2577.
30. Boya P., Mellem M.A., de la Rosa E.J. How autophagy is related to programmed cell death during development of the nervous system. Biochem. Soc. Trans. 2008, 36:813-817.
31. Brown A., McKie M., van Heyningen V., Prosser J. The human PAX6 mutation database. Nucleic Acids Res. 1998, 26:259-264.
32. Brown N.L., Kanekar S., Vetter M.L., Tucker P.K., Gemza D.L., Glaser T. Math5 encodes a murine basic helix-loop-helix transcription factor expressed during early stages of retinal neurogenesis. Development 1998, 125:4821-4833.
33. Brown N.L., Patel S., Brzezinski J., Glaser T. Math5 is required for retinal ganglion cell and optic nerve formation. Development 2001, 128:2497-2508.
34. Brownell I., Guevara E., Bai C.B., Loomis C.A., Joyner A.L. Nerve-derived sonic hedgehog defines a niche for hair follicle stem cells capable of becoming epidermal stem cells. Cell Stem Cell 2011, 8:552-565.
35. Brzezinski J.A., Lamba D.A., Reh T.A. Blimp1 controls photoreceptor versus bipolar cell fate choice during retinal development. Development 2010, 137:619-629.
36. Brzezinski J.A., Prasov L., Galser T. Math5 defines the ganglion cell competence state in a subpopulation of retinal progenitor cells exiting the cell cycle. Dev. Biol. 2012, 365:395-413.
37. Bumsted K., Hendrickson A. Distribution and development of short-wave cones differ between Macaca monkey and human fovea. J. Comp. Neurol. 1999, 403:502-516.
38. Burns C.J., Zhang J., Brown E.C., Van Bibber A.M., Van Es J., Clevers H., Ishikawa T.O., Taketo M.M., Vetter M.L., Fuhrmann S. Investigation of Frizzled-5 during embryonic neural development in mouse. Dev. Dyn. 2008, 237:1614-1626.
39. Bursch W. The autophagosomal-lysosomal compartment in programmed cell death. Cell. Death Differ. 2001, 8:569-581.
40. Cai Z., Feng G.S., Zhang X. Temporal requirement of the protein tyrosine phosphatase Shp2 in establishing the neuronal fate in early retinal development. J. Neurosci. 2010, 30:4110-4119.
41. Candal E., Anadón R., DeGrip W.J., Rodriguez-Moldes I. Patterns of cell proliferation and cell death in the developing retina and optic tectum of the brown trout. Brain Res. Dev. Brain Res. 2005, 154:101-119.
42. Carbe C., Hertzler-Schafer K., Zhang X. The functional role of the Meis/Prep-binding elements in Pax6 locus during pancreas and eye development. Dev. Biol. 2012, 363:320-329.
43. Carreres M.I., Escalante A., Murillo B., Chauvin G., Gaspar P., Vegar C., Herrera E. Transcription factor Foxd1 is required for the specification of the temporal retina in mammals. J. Neurosci. 2011, 31:5673-5681.
44. Chaabouni M., Etchevers H., De Blois M.C., Calvas P., Waill-Perrier M.C., Vekemans M., Romana S.P. Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment. Invest. Ophthalmol. Vis. Sci. 2010, 51:4380-4386.
45. Chambers D., Wilson L., Maden M., Lumsden A. RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1. Development 2007, 134:1369-1383.
46. Chan-Ling T., McLeod D.S., Hughes S., Baxter L., Chu Y., Hasegawa T., Lutty G.A. Astrocyte-endothelial cell relationships during human retinal vascular development. Invest. Ophthalmol. Vis. Sci. 2004, 45:2020-2032.
47. Chavarria T., Valenciano A.I., Mayordomo R., Egea J., Comella J.X., Hallbook F., De Pablo F., de la Rosa E.J. Differential, age-dependent ERK and PI3K activation by insulin acting as a survival factor in early retinal development. Dev. Neurobiol. 2007, 67:1777-1788.
48. Chao T.I., Xiang S., Chen C.S., Chin W.C., Nelson A.J., Wang C., Lu J. Carbon nanotubes promote neuron differentiation from human embryonic stem cells. Biochem. Biophys. Res. Commun. 2009, 384:426-430.
49. Chao T.I., Xiang S., Lipstate J.F., Wang C., Lu J. Poly (methacrylic acid)-grafted carbon nanotube scaffolds enhance differentiation of hESCs into neuronal cells. Adv. Mater. 2010, 22:3542-3547.
50. Chen Z.Y., Battinelli E.M., Fielder A., Bundey S., Sims K., Breakefield X.O., Craig I.W. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat. Genet. 1993, 5:180-183.
51. Chen S., Wang Q.-L., Nie Z., Sun H., Lennon G., Copeland N.G., Gilbert D.J., Jenkins N.A., Zack D.J. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron 1997, 19:1017-1030.
52. Chen F., Figueroa D.J., Marmorstein A.D., Zhang Q., Petrukin K., Caskey C.T., Austin C.P. Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells. Proc. Natl. Acad. Sci. U.S.A. 1999, 96:15149-15154.
53. Chen J., Rattner A., Nathans J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J. Neurosci. 2005, 25:118-129.
54. Cheng H., Khan N.W., Roger J.E., Swaroop A. Excess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursors. Hum. Mol. Genet. 2011, 20:4102-4115.
55. Cherry T.J., Trimarchi J.M., Stadler M.B., Cepko C.L. Development and diversification of retinal amacrine interneurons at single cells resolution. Proc. Natl. Acad. Sci. U.S.A. 2008, 106:9495-9500.
56. Cherry T.J., Wang S., Bormuth I., Schwab M., Olson J., Cepko C.L. NeuroD factors regulate cell fate and neurite stratification in the develoing retina. J. Neurosci. 2011, 31:7365-7379.
57. Cho S.H., Cepko C.L. Wnt2b/beta-catenin-mediated canonical Wnt signalling determines the peripheral fates of the chick eye. Development 2006, 133:3167-3177.
58. Chow R.L., Altmann C.R., Lang R.A., Hemmati-Brivanlou A. Pax6 induces ectopic eyes in a vertebrate. Development 1999, 126:4213-4222.
59. Chow R.L., Lang R.A. Early eye development in vertebrates. Ann. Rev. Cell. Dev. Biol. 2001, 17:255-296.
60. Chow R.L., Volgyi B., Szilard R.K., Ng D., McKerlie C., Bloomfield S.A., Birch D.G., McInnes R.R. Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:1754-1759.
61. Ciani L., Salinas P.C. WNTs in the vertebrate nervous system: from patterning to neuronal connectivity. Nat. Rev. Neurosci. 2005, 6:351-362.
62. Cimadamore F., Curchoe C.L., Alderson N., Scott F., Salvesen G., Terskikh A.V. Nicotinamide rescues human embryonic stem cell derived neuroectoderm from parthanatic cell death. Stem Cells 2009, 27:1772-1781.
63. Clarke P.G. Developmental cell death: morphological diversity and multiple mechanisms. Anat. Embryol. (Berl.) 1990, 181:195-213.
64. Cohen-Cory S., Lom B. Neurotrophic regulation of retinal ganglion cell synaptic connectivity: from axons and dendrites to synapses. Int. J. Dev. Biol. 2004, 48:947-956.
65. Corbo J.C., Lawrence K.A., Karlstetter M., Myers C.A., Abdelaziz M., Dirkes W., Weigelt K., Seifert M., Benes V., Fritsche L.G., Weber B.H., Langmann T. CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome Res. 2010, 20:1512-1525.
66. Cwinn M.A., Mazerolle C., McNeill B., Ringuette R., Thurig S., Hui C.C., Wallace V.A. Suppressor of fused is required to maintain the multipotency of neural progenitor cells in the retina. J. Neurosci. 2011, 31:5169-5180.
67. Daiger S.P., Shankar S.P., Schindler A.B., Sullivan L.S., Bowne S.J., King T.M., Daw E.W., Stone E.M., Heckenlively J.R. Genetic factors modifying clinical expression of autosomal dominant RP. Adv. Exp. Med. Biol. 2008, 572:3-8.
68. Dakubo G.D., Mazerolle C., Furimsky M., Yu C., St-Jaques B., McMahon A.P., Wallace V.A. Indian hedgehog signaling from endothelial cells is required for sclera and retinal pigment epithelium development in the mouse eye. Dev. Biol. 2008, 320:242-255.
69. Dakubo G.D., Beug S.T., Mazerolle C.J., Thurij S., Yang Y., Wallace V.A. Control of glial precursor cell development in the mouse optic nerve by sonic hedgehog from retinal ganglion cells. Brain Res. 2008, 1228:27-42.
70. Das A.V., Mallya K.B., Zhao X., Ahmad F., Bhattacharya S., Thoreson W.B., Hegde G.V., Ahmad I. Neural stem cell properties of Muller glia in the mammalian retina: regulation by Notch and Wnt signaling. Dev. Biol. 2006, 299:283-302.
71. Davis A.A., Matzuk M.M., Reh T.A. Activin A promotes progenitor differentiation into photoreceptors into rodent retina. Mol. Cell. Neurosci. 2000, 15:11-21.
72. Davis-Silberman N., Ashery-Padan R. Iris development in vertebrate: genetic and molecular considerations. Brain Res. 2008, 1192:17-28.
73. Decembrini S., Andreazzoli M., Vignali R., Barsacchi G., Cremisi F. Timing the generation of distinct retinal cells by homeobox proteins. PLoS Biol. 2006, 4:e272.
74. Decembrini S., Bressan D., Vignali R., Pitto L., Mariotti S., Rainaldi G., Wang X., Evangelista M., Barsacchi G., Cremisi F. MicroRNAs couple cell fate and developmental timing in retina. Proc. Natl. Acad. Sci. U.S.A. 2009, 106:21179-21184.
75. Degterev A., Hitomi J., Germscheid M., Ch'en I.L., Korkina O., Teng X., Abbott D., Cuny G.D., Yuan C., Wagner G., Hedrick S.M., Gerber S.A., Lugovskoy A., Yuan J. Identification of RIP1 kinase as a specific cellular target of necrostatins. Nat. Chem. Biol. 2008, 4:313-321.
76. de Melo J., Peng G.H., Chen S., Blackshaw S. The Spalt family transcription factor Sall3 regulates the development of cone photoreceptors and retinal horizontal interneurons. Development 2011, 138:2325-2336.
77. den Hollander A.I., Heckenlively J.R., van den Born L.I., de Kok Y.J.M., van der Velde-Visser S.D., Kellner U., Jurklies B., van Schooneveld M.J., Blankenagel A., Rohrschneider K., Wissinger B., Cruysberg J.R.M., Deutman A.F., Brunner H.G., Apfelstedt-Sylla E., Hoyng C.B., Cremers F.P.M. Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am. J. Hum. Genet. 2001, 69:198-203.
78. Dias da Silva M.R., Tiffin N., Mima T., Mikawa T., Hyer J. FGF-mediated induction of ciliary body tissue in the chick eye. Dev. Biol. 2007, 304:272-285.
79. Dickens L.S., Powley I.R., Hughes M.A., MacFarlane M. The 'complexities' of life and death: death receptor signalling platforms. Exp. Cell. Res. 2012, 318:1269-1277.
80. Dinculescu A., Estreicher J., Zenteno J.C., Aleman T.S., Schwartz S.B., Huang W.C., Roman A.J., Sumaroka A., Li Q., Deng W.T., Min S.H., Chiodo V.A., Neeley A., Liu X., Shu X., Matias-Florentino M., Buentello-Volante B., Boye S.L., Cideciyan A.V., Hauswirth W.W., Jacobson S.G. Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. Hum. Gene Ther. 2012, 23:367-376.
81. Ding Q., Chen H., Xie X., Libby R.T., Tian N., Gan L. BARHL2 differentially regulates the development of retinal amacrine and ganglion neurons. J. Neurosci. 2009, 29:3992-4003.
82. Donner A.L., Lachke S.A., Maas R.L. Lens induction in vertebrates: variations on a conserved theme of signaling events. Semin. Cell. Dev. Biol. 2006, 17:676-685.
83. Donovan M., Doonan F., Cotter T.G. Differential roles of ERK1/2 and JNK in retinal development and degeneration. J. Neurochem. 2011, 116:33-42.
84. Doonan F., Donovan M., Gomez-Vicente V., Bouillet P., Cotter T.G. Bim expression indicates the pathway to retinal cell death in development and degeneration. J. Neurosci. 2007, 27:10887-10894.
85. Dorrell M.I., Aguilar E., Friedlander M. Retinal vascular development is mediated by endothelial filopodia, a preexisting astrocytic template and specific R-cadherin adhesion. Invest. Ophthalmol. Vis. Sci. 2002, 43:3500-3510.
86. Dreyer S.D., Zhou G., Baldini A., Winterpacht A., Zabel B., Cole W., Johnson R.L., Lee B. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat. Genet. 1998, 19:47-50.
87. Duncan M.K., Cvekl A., Piatigorsky J. Truncated forms of Pax-6 disrupt lens morphology in transgenic mice. Invest. Ophthalmol. Vis. Sci. 2000, 41:464-473.
88. Edwards M.M., McLeod D.S., Li R., Grebe R., Bhutto I., Mu X., Lutty G.A. The deletion of Math5 disrupts retinal blood vessels and glial development in mice. Exp. Eye Res. 2012, 96:147-156.
89. Eiraku M., Takata N., Ishibashi H., Kawada M., Sakaura E., Okuda S., Sekiguchi K., Adachi T., Sasai Y. Self-organizing optic-cup morphogenesis in three-dimensional culture. Nature 2011, 472:51-56.
90. Elliott J., Jolicoeur C., Ramamurthy V., Cayouette M. Ikaros confers early temporal competence to mouse retinal progenitor cells. Neuron 2008, 60:26-39.
91. Elshatory Y., Everhart D., Deng M., Xie X., Barlow R.B., Gan L. Islet-1 controls the differentiation of retinal bipolar and cholinergic amacrine cells. J. Neurosci. 2007, 27:12707-12720.
92. Euskirchen G.M., Rozowsky J.S., Wei C.-L., Lee W.H., Zhang Z.D., Hartman S., Emanuelsson O., Stolc V., Weissman S., Gerstein M.B., Ruan M.B., Synder M. Mapping of transcription factor binding regions in mammalian cells by ChIP: comparison of array- and sequencing-based technologies. Genome Res. 2007, 17:898-909.
93. Ezzeddine Z.D., Yang X., DeChiara T., Yancopoulos G., Cepko C.L. Postmitotic cells fated to become rod photoreceptors can be respecified by CNTF treatment of the retina. Development 1997, 124:1055-1067.
94. Feng L., Xie X., Joshi P.S., Yang Z., Shibasaki K., Chow R.L., Gan L. Requirement for Bhlhb5 in the specification of amacrine and cone bipolar subtypes in mouse retina. Development 2006, 133:4815-4825.
95. Feng L., Xie Z.H., Ding Q., Xie X., Libby R.T., Gan L. MATH5 controls the acquisition of multiple retinal cell fates. Mol. Brain 2010, 3:36.
96. Freund C.L., Gregory-Evans C.Y., Furukawa T., Papaioannou M., Looser J., Ploder L., Bellingham J., Ng D., Herbrick J.A., Duncan A., Scherer S.W., Tsui L.C., Loutradis-Anagnostou A., Jacobson S.G., Cepko C.L., Bhattacharya S.S., McInnes R.R. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 1997, 91:543-553.
97. Freund C.L., Wang Q.-L., Chen S., Muskat B.L., Wiles C.D., Sheffield V.C., Jacobson S.G., McInnes R.R., Zack D.J., Stone E.M. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat. Genet. 1998, 18:311-312.
98. Fu X., Sun H., Klein W.H., Mu X. Beta-catenin is essential for lamination but not neurogenesis in mouse retinal development. Dev. Biol. 2006, 299:424-437.
99. Fuhrmann S. Wnt signalling in eye organogenesis. Organogenesis 2008, 4:60-67.
100. Fuhrmann S. Eye morphogenesis and patterning of the optic vesicle. Curr. Top. Dev. Biol. 2010, 93:61-84.
101. Fujieda H., Bremner R., Mears A.J., Sasaki H. Retinoic acid receptor-related orphan receptor α regulates a subset of cones genes during mouse retinal development. J. Neurochem. 2008, 108:91-101.
102. Fujimura N., Taketo M.M., Mori M., Korinek V., Kozmik Z. Spatial and temporal regulation of Wnt/β-catenin signaling is essential for development of the retinal pigment epithelium. Dev. Biol. 2009, 334:31-45.
103. Fujitani Y., Fujitani S., Fujitani H., Luo H., Qiu F., Burlison J., Long Q., Kawaguchi Y., Edlund H., Macdonald R.J., Firakawa T., Fijikado T., Magnuson M.A., Xiang C., Wright C.V. Ptf1a determines horizontal and amacrine cell fates during mouse retinal development. Development 2006, 133:4439-44450.
104. Furukawa T., Morrow E.M., Cepko C.L. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 1997, 91:531-541.
105. Furukawa T., Morrow E.M., Li T., Davis F.C., Cepko C.L. Retinopathy and attenuated circadian entrainment in Crx-deficient mice. Nat. Genet. 1999, 23:466-470.
106. Furukawa T., Mukherjee S., Bao Z.Z., Morrow E.M., Cepko C.L. rax, Hes1, and notch1 promote the formation of Muller glia by postnatal retinal progenitor cells. Neuron 2000, 26:383-394.
107. Gage P.J., Qian M., Wu D., Rosenberg K.I. The canonical Wnt signaling antagonist DKK2 is an essential effector of PITX2 function during normal eye development. Dev. Biol. 2008, 317:310-324.
108. Galluzzi L., Kepp O., Kroemer G. RIP kinases initiate programmed necrosis. J. Mol. Cell. Biol. 2009, 1:8-10.
109. Gao L., Miller R.H. Specification of optic nerve oligodendrocyte precursors by retinal ganglion cell axons. J. Neurosci. 2006, 26:7619-7628.
110. Gariano R.F., Sage E.H., Kaplan H.J., Hendrickson A.E. Development of astrocytes and their relationship to blood vessels in fetal monkey retina. Invest. Ophthalmol. Vis. Sci. 1996, 37:2367-2375.
111. Gerhardt H., Golding M., Fruttinger M., Rhurberg C., Lundkvist A., Abramsson A., Jeltsch M., Mitchell K., Shima D., Betsholtz C. VEGF guides angiogenic sprouting utilizing endothelial tip cell filopodia. J. Cell. Biol. 2003, 161:1163-1177.
112. Gerhardt H., Betsholtz C. Dll4 signalling through Notch1 regulates formation of tip cells during angiogenesis. Nature 2007, 445:776-780.
113. Gestri G., Osborne R.J., Wyatt A.W., Gerrelli D., Gribble S., Stewart H., Fryer A., Bunyan D.J., Prescott K., Collin J.R., Fitzgerald T., Carter N.P., Wilson S.W., Ragge N.K. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum. Genet. 2009, 126:791-803.
114. Ghiasvand N.M., Rudolph D.D., Mashayekhi M., Brzezinski J.A., Goldman D., Glaser T. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. Nat. Neurosci. 2011, 14:578-586.
115. Gibson-Brown J.J., Aqulnik S.I., Silver L.M., Papaioannou V.E. Expression of T-box genes Tbx2-Tbx5 during chick organogenesis. Mech. Dev. 1998, 74:165-169.
116. Glaser T., Walton D.S., Maas R.L. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat. Genet. 1992, 2:232-239.
117. Goldmann T., Overlack N., Wolfrum U., Nagel-Wolfrum K. PTC124-mediated translational reathrough of a nonsense mutation causing Usher syndrome type 1C. Hum. Gene Ther. 2011, 22:537-547.
118. Gomes F.L., Zhang G., Carbonell F., Correa J.A., Harris W.A., Simons B.D., Cayouette M. Reconstruction of rat retinal progenitor cell lineages in vitro reveals a surprising degree of stochasticity in cell fate decisions. Development 2011, 138:227-235.
119. Grasl-Kraupp B., Ruttkay-Nedecky B., Koudelka H., Bukowska K., Schulte-Hermann R. In situ detection of fragmented DNA (TUNEL assay) fails to discriminate among apoptosis, necrosis, and autolytic cell death: a cautionary note. Hepatology 1995, 21:1465-1468.
120. Gregory-Evans K., Bhattacharya S.S. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 1998, 14:103-108.
121. Gregory-Evans C.Y., Williams M.J., Halford S., Gregory-Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. J. Med. Genet. 2004, 41:881-891.
122. Gregory-Evans C.Y., Moosajee M., Mackay D.S., Game L., Vargesson N., Bloch-Zupan A., Ruschendorf F., Santos-Pinto L., Wackens G., Gregory-Evans K. SNP genome scanning localises microdeletions of chromosome 11q13 in oto-dental syndrome implicating FGF3 in dental and inner ear disease and FADD in ocular coloboma. Hum. Mol. Genet. 2007, 16:2482-2493.
123. Gregory-Evans C.Y., Gregory-Evans K. Foveal hypoplasia: the case for arrested development. Expert Rev. Ophthalmol. 2011, 6:565-574.
124. Gregory-Evans K., Cheong-Leen R., George S.M., Xie J., Moosajee M., Colapinto P., Gregory-Evans C.Y. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can. J. Ophthalmol. 2011, 46:337-344.
125. Gregory-Evans C.Y., Moosajee M., Shan X., Gregory-Evans K. Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. Mol. Vis. 2011, 17:1473-1484.
126. Guillemot F. Cell fate specification in the mammalian telencephalon. Prog. Neurobiol. 2007, 83:37-52.
127. Hackam A.S. The Wnt signaling pathway in retinal degenerations. IUBMB Life 2005, 57:381-388.
128. Hagglund A.C., Dahl L., Carlsson L. Lhx2 is required for patterning of a distinct progenitor cell population committed to eye development. PLoS One 2011, 6:e23387.
129. Hahn P., Lindsten T., Ying G.S., Bennett J., Milam A.H., Thompson C.B., Dunaief J.L. Proapoptotic bcl-2 family members, Bax and Bak, are essential for developmental photoreceptor apoptosis. Invest. Ophthalmol. Vis. Sci. 2003, 44:3598-3605.
130. Haider N.B., Jacobson S.G., Cideciyan A.V., Swiderski R., Streb L.M., Searby C., Beck G., Hockey R., Hanna D.B., Gorman S., Duhl D., Carmi R., Bennett J., Weleber R.G., Fishman G.A., Wright A.F., Stone E.M., Sheffield V.C. Mutation of a nuclear receptor gene, NR2E3, caused enhanced S-cone syndrome, a disorder of retinal cell fate. Nat. Genet. 2000, 24:127-131.
131. Haider M.Z., Devarajan L.V., Al-Essa M., Srivastva B.S., Kumar H., Azad R., Rashwan N. Missense mutations in Norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti Arabs. Biol. Neonate 2000, 77:88-91.
132. Haider N.B., Demarco P., Nystuen A.M., Huang X., Smith R.S., McCall M.A., Naggert J.K., Nishina P.M. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis. Neurosci. 2006, 23:917-929.
133. Hallonet M., Hollemann T., Pieler T., Gruss P. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system. Genes Dev. 1999, 12:3106-3114.
134. Hamann S., Schorderet D.F., Cottet S. Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration. PLoS One 2009, 4:e6616.
135. Hang B.I., Thorne C.A., Robbins D.J., Huppert S.S., Lee L.A., Lee E. Screening for small molecule inhibitors of embryonic pathways: sometimes you gotta crack a few eggs!. Bioorg. Med. Chem. 2012, 20:1869-1877.
136. Hao H., Tummala P., Guzman E., Mali R.S., Gregorski J., Swaroop A., Mitton K.P. The transcriptional factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter. J. Biol. Chem. 2011, 286:34893-34902.
137. Hao H., Kim D.S., Klocke B., Johnson K.R., Cui K., Zang C., Gregorski J., Gieser L., Peng W., Fan Y., Seifert M., Zhao K., Swaroop A. Transcriptional regulation of rod photoreceptor homeostasis revealed by in vitro NRL targetome analysis. PLoS Genet. 2012, 8:e1002649.
138. Harder J.M., Libby R.T. BBC3 (PUMA) regulates developmental apoptosis but not axonal injury induced death in the retina. Mol. Neurodegener 2011, 6:50.
139. Harwell C.C., Parker P.R., Gee S.M., McConnell S.K., Kreitzer A.C., Kriegstein A.R. Sonic hedgehog expression in corticofugal projection neurons directs cortical microcircuit formation. Neuron 2012, 73:1116-1126.
140. Hashimoto T., Zhang X.M., Chen B.Y., Yang X.J. VEGF activates divergent intracellular signaling components to regulate retinal progenitor cell proliferation and neuronal differentiation. Development 2006, 133:2201-2210.
141. Hatakeyama J., Tomita K., Inoue T., Kageyama R. Roles of homeobox and bHLH genes in specification of a retinal cell type. Development 2001, 128:1313-1322.
142. Haverkamp S., Ghosh K.K., Hirano A.A., Wässle H. Immunocytochemical description of five bipolar cell types of the mouse retina. J. Comp. Neurol. 2002, 455:463-476.
143. Heine P., Dohle E., Bumsted-O'Brien K., Engelkamp D., Schulte D. Evidence for an evolutionary conserved role of homothorax/Meis1/2 during vertebrate retinal development. Development 2008, 135:805-811.
144. Hellström M., Phng L.-K., Hofmann J.J., Wallgard E., Coultas L., Lindblom P., Alva J., Nilsson A.-K., Karlsson L., Gaiano N., Yoo K., Rossant J., Iruela-Arispe M.L., Kalén M., Gerhardt H., Betsholtz C. DII4 signalling through Notch1 regulates formation of tip cells during angiogenesis. Nature 2007, 445:776-780.
145. Henderson R.H., Williamson K.A., Kennedy J.S., Webster A.R., Holder G.E., Robson A.G., FitzPatrick D.R., van Heyningen V., Moore A.T. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol. Vis. 2009, 15:2442-2447.
146. Hendrickson A. A morphological comparison of foveal development in man and monkey. Eye 1992, 6:136-144.
147. Hendrickson A.E., Yuodelis C. The morphological development of the human fovea. Ophthalmology 1984, 91:603-612.
148. Henkind P., Siegel I.M., Carr R.E. Mesodermal dysgenesis of the anterior segment: Rieger's anomaly. Arch. Ophthalmol. 1965, 73:810-817.
149. Hennig A.K., Peng G.H., Chen S. Regulation of photoreceptor gene expression by Crx-associated transcription factor network. Brain Res. 2008, 1192:114-133.
150. Henrique D., Hirsinger E., Adam J., Le Roux I., Pourquie O., Ish-Horowicz D., Lewis J. Maintenance of neuroepithelial progenitor cells by Delta-Notch signalling in the embryonic chick retina. Curr. Biol. 1997, 7:661-670.
151. Hojo M., Ohtsuka T., Hashimoto N., Gradwohl G., Guillemot F., Kageyama R. Glial cell fate specification modulated by the bHLH gene Hes5 in mouse retina. Development 2000, 127:2515-2522.
152. Holler N., Zaru R.M., Micheau O., Thome M., Attinger A., Valitutti S., Bodmer J.L., Schneider P., Seed B., Tschopp J. Fas triggers an alternative, caspase-8-independent cell death pathway using the kinase RIP as effector molecule. Nat. Immunol. 2000, 1:489-495.
153. Hood D.C., Cideciyan A.V., Roman A.J., Jacobson S.G. Enhanced S-cone syndrome: evidence for an abnormally large number of S cones. Vis. Res. 1995, 35:1473-1481.
154. Hornby S.J., Ward S.J., Gilbert C.E., Dandona L., Foster A., Jones R.B. Environmental risk factors in congenital malformations of the eye. Ann. Trop. Paediatr. 2002, 22:67-77.
155. Horsford D.J., Nguyen M.T., Sellar G.C., Kothary R., Arnheiter H., McInnes R.R. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 2005, 132:177-187.
156. Howard M., Frizzell R.A., Bedwell D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop codons. Nat. Med. 1996, 2:467-469.
157. Hu S., Cheng F., Liang J., Wu W., Zhang J. Maternal xNorrin, a canonical Wnt signalling agonist and TGF-β antagonist, controls early neuroectoderm specification in Xenopus. PLoS Biol. 2012, 10:e1001286.
158. Hui C.C., Angers S. Gli proteins in development and disease. Annu. Rev. Cell. Dev. Biol. 2011, 27:513-537.
159. Hume D.A., Perry V.H., Gordon S. Immunohistochemical localization of a macrophage-specific antigen in developing mouse retina: phagocytosis of dying neurons and differentiation of microglial cells to form a regular array in the plexiform layers. Cell. Biol. 1983, 97:253-257.
160. Hutcheson K.A., Paluru P.C., Bernstein S.L., Koh J., Rappaport E.F., Leach R.A., Young T.L. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol. Vis. 2005, 11:501-508.
161. Hynes S.R., Lavik E.B. A tissue-engineered approach towards retinal repair: scaffolds for cell transplantation to the subretinal space. Graefe's Arch. Clin. Exp. Ophthalmol. 2010, 248:763-778.
162. Idelson M., Alper R., Obolensky A., Ben-Shushan E., Hemo I., Yachimovich-Cohen N., Khaner H., Smith Y., Wiser O., Gropp M., Cohen M.A., Even-Ram S., Berman-Zaken Y., Matzrafi L., Rechavi G., Banin E., Reubinoff B. Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells. Cell Stem Cell 2009, 5:396-408.
163. Ikeda H., Osakada F., Watanabe K., Mizuseki K., Haraguchi T., Miyoshi H., Kamiya D., Honda Y., Sasai N., Yoshimura N., Takahashi M., Sasai Y. Generation of Rx+/Pax6+ neural retinal precursors from embryonic stem cells. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:11331-11336.
164. Imai S., Armstrong C.M., Kaeberlein M., Guarente L. Transcriptional silencing and longevity protein Sir2 is an NAD-dependent histone deacetylase. Nature 2000, 403:795-800.
165. Imaizumi M., Kuwabara T. Development of the rat iris. Invest. Ophthalmol. Vis. Sci. 1971, 10:733-744.
166. Inoue T., Hojo M., Bessho Y., Tano Y., Lee J.E., Kageyama R. Math3 and NeuroD regulate amacrine cell fate specification in the retina. Development 2002, 129:831-842.
167. Inoue T., Kagawa T., Fukushima M., Shimizu T., Yoshinaga Y., Takada S., Tanihara H., Taga T. Activation of canonical Wnt pathway promotes proliferation of retinal stem cells derived from adult mouse ciliary margin. Stem Cells 2006, 24:95-104.
168. Inoue T., Coles B.L., Dorval K., Bremner R., Bessho Y., Kageyama R., Hino S., Matsuoka M., Craft C.M., McInnes R.R., Tremblay F., Prusky G.T., van der Kooy D. Maximizing functional photoreceptor differentiation from adult human retinal stem cells. Stem Cells 2010, 28:489-500.
169. Isenmann S., Kretz A., Cellerino A. Molecular determinants of retinal ganglion cells development, survival, and regeneration. Prog. Ret. Eye Res. 2003, 22:483-543.
170. Ito Y.A., Footz T.K., Berry F.B., Mirzayans F., Yu M., Khan A.O., Walter M.A. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest. Ophthalmol. Vis. Sci. 2009, 50:3573-3579.
171. Jacobson S.G., Cideciyan A.V., Aleman T.S., Pianta M.J., Sumaroka A., Schwartz S.B., Smilko E.E., Milam A.H., Sheffield V.C., Stone E.M. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 2003, 12:1073-1078.
172. Jacobson S.G., Aleman T.S., Cideciyan A.V., Heon E., Golczak M., Beltran W.A., Sumaroka A., Schwartz S.B., Roman A.J., Windsor E.A.M., Wilson J.M., Aguirre G.D., Stone E.M., Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:15123-15128.
173. Jadhav A.P., Mason H.A., Cepko C.L. Notch 1 inhibits photoreceptor production in the developing mammalian retina. Development 2006, 133:913-923.
174. Jadhav A.P., Cho S.H., Cepko C.L. Notch activity permits retinal cells to progress through multiple progenitor states and acquire a stem cell property. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:18998-19003.
175. Jia L., Oh E.C.T., Ng L., Srinivas M., Brooks M., Swaroop A., Forrest D. Retinoid-related orphan nuclear receptor RORβ is an early-acting factor in rod photoreceptor development. Proc. Natl. Acad. Sci. U.S.A. 2009, 109:17534-17539.
176. Jiang H., Xiang M. Subtype specification of GABAergic amacrine cells by the orphan nuclear receptor Nr4a2/Nurr1. J. Neurosci. 2009, 29:10449-10459.
177. 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. Nat. Genet. 1992, 1:328-332.
178. Junge H.J., Yang S., Burton J.B., Paes K., Shu X., French D.M., Costa M., Rice D.S., Ye W. TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling. Cell 2009, 139:299-311.
179. Kageyama R., Ohtsuka T., Kobayashi T. Roles of Hes genes in neural development. Dev. Growth Differ. 2008, 50(Suppl. 1):S97-S103.
180. Kageyama R., Ohtsuka T., Shimojo H., Imayoshi I. Dynamic regulation of Notch signaling in neural progenitor cells. Curr. Opin. Cell. Biol. 2009, 21:733-740.
181. Kaiser W.J., Upton J.W., Long A.B., Livingston-Rosanoff D., Daley-Bauer L.P., Hakem R., Caspary T., Mocarski E.S. RIP3 mediates the embryonic lethality of caspase-8-deficient mice. Nature 2011, 447:368-372.
182. Kanda A., Friedman J.S., Nishiguchi K.M., Swaroop A. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum. Mutat. 2007, 28:589-598.
183. Kannabiran C., Singh H., Sahini N., Jalali S., Mohan G. Mutations in TULP1, NR2E3 and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Mol. Vis. 2012, 18:1165-1174.
184. Kapitskaya M., Cunningham M.E., Lacson R., Kornienko O., Bednar B., Petrukhin K. Development of the high throughput screening assay for identification of agonists of an orphan nuclear receptor. Assay Drug Dev. Technol. 2006, 4:253-262.
185. Katoh K., Omori Y., Onishi A., Sato S., Kondo M., Furukawa T. Blimp1 suppresses Chx10 expression in differentiating retinal photoreceptor precursors to ensure proper photoreceptor development. J. Neurosci. 2010, 30:6515-6526.
186. Kawasumi M., Nghiem P. Chemical genetics: elucidating biological systems with small-molecule compounds. J. Invest. Dermatol. 2007, 127:1577-1584.
187. Kay J.N., De la Huerta I., Kim I.J., Zhang Y., Yamagata M., Chu M.W., Meister M., Sanes J.R. Retinal ganglion cells with distinct directional preferences differ in molecular identity, structure, and central projections. J. Neurosci. 2011, 31:7753-7762.
188. Kay J.N., Voinescu P.E., Chu M.W., Sanes J.R. Neurod6 expression defines new retinal amacrine subtypes and regulates their fate. Nat. Neurosci. 2011, 14:965-972.
189. Kelly M.W., Turner J.K., Reh T.A. Regulation of proliferation and photoreceptor differentiation in human fetal retinal cell cultures. Invest. Ophthalmol. Vis. Sci. 1995, 36:1280-1289.
190. Kennedy B.N., Stearns G.W., Smyth V.A., Ramamurthy V., van Eeden F., Ankoudinova I., Raible D., Hurley J.B., Brockerhoff S.E. Zebrafish rx3 and mab21l2 are required during eye morphogenesis. Dev. Biol. 2004, 270:336-349.
191. Kermer P., Klocker N., Labes M., Bahr M. Insulin-like growth factor-I protects axotomized rat retinal ganglion cells from secondary death via PI3-K-dependent Akt phosphorylation and inhibition of caspase-3 in vivo. J. Neurosci. 2000, 20:2-8.
192. Khan A.O., Aldahmesh M.A., Alkuraya F.S. Genetic and genomic analysis of classic aniridia in Saudi Arabia. Mol. Vis. 2011, 17:708-714.
193. Khan A.O., Aldahmesh M.A., Al-Abdi L., Mohamed J.Y., Hashem M., Al-Ghamdi I., Alkuraya F.S. Molecular characterization of newborn glaucoma including a distinct aniridia phenotype. Ophthalmic Genet. 2011, 32:138-142.
194. Kim D.S., Matsuda T., Cepko C.L. A core paired-type and POU homeodomain transcription factor program drives retinal bipolar cell gene expression. J. Neurosci. 2008, 28:7748-7764.
195. Kim H., Tu H.C., Ren D., Takeuchi O., Jeffers J.R., Zambetti G.P., Hsieh J.J., Cheng E.H. Stepwise activation of BAX and BAK by tBID, BIM, and PUMA initiates mitochondrial apoptosis. Mol. Cell. 2009, 36:487-499.
196. Kim J.H., Kim J.H., Yu Y.S., Mun J.Y., Kim K.-W. Autophagy-induced regression of hyaloid blood vessels in early ocular development. Autophagy 2010, 6:922-928.
197. Kitambi S.S., McCulloch K.J., Peterson R.T., Malicki J.J. Small molecule screen for compounds that affect vascular development in the zebrafish retina. Mech. Dev. 2009, 126:464-477.
198. Kiyama T., Mao C.A., Cho J.H., Fu X., Pan P., Mu X., Klein W.H. Overlapping spatiotemporal patterns of regulatory gene expression are required for neuronal progenitors to specify retinal ganglion cell fate. Vis. Res. 2011, 51:251-259.
199. Koay E.J., Athanasiou K.A. Hypoxic chondrogenic differentiation of human embryonic stem cells enhances cartilage protein synthesis and biomechanical functionality. Osteoarthritis Cartilage 2008, 16:1450-1456.
200. Kobayashi T., Yasuda K., Araki M. Coordinated regulation of dorsal bone morphogenetic protein 4 and ventral Sonic hedgehog signaling specifies the dorso-ventral polarity in the optic vesicle and governs ocular morphogenesis through fibroblast growth factor 8 upregulation. Dev. Growth Differ. 2010, 52:351-363.
201. Koenekoop R.K., Fishman G.A., Iannaccone A., Ezzeldin H., Ciccarelli M.L., Baldi A., Sunness J.S., Lotery A.J., Jablonski M.M., Pittler S.J., Maumenee I. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations. Arch. Ophthalmol. 2002, 120:1325-1330.
202. Koike C., Nishida A., Ueno S., Saito H., Sanuki R., Sato S., Furukawa A., Aizawa S., Matsuo I., Suzuki N., Kondo M., Furukawa T. Functional roles of Otx2 transcription factor in postnatal mouse retinal development. Mol. Cell. Biol. 2007, 27:8318-8329.
203. Kozulin P., Provis J.M. Differential gene expression in the developing human macula: microarray analysis using rare tissue samples. J. Ocul. Biol. Dis. Inform. 2009, 2:176-189.
204. Kuan C.Y., Roth K.A., Flavell R.A., Rakic P. Mechanisms of programmed cell death in the developing brain. Trends Neurosci. 2000, 23:291-297.
205. Kubo F., Takeichi M., Nakagawa S. Wnt2b controls retinal cell differentiation at the ciliary marginal zone. Development 2003, 130:587-598.
206. Lacassagne E., Dhuez A., Rigasudiere F., Dansault A., Vetu C., Vieira V., Puech B., Defoort-Dhellemmes S., Abitbol M. Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy. Mol. Vis. 2011, 17:309-322.
207. Lamba D.A., Karl M.O., Ware C.B., Reh T.A. Efficient generation of retinal progenitor cells from human embryonic stem cells. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:12769-12774.
208. Lamba D., Karl M., Reh T. Neural regeneration and cell replacement: a view from the eye. Cell Stem Cell 2008, 2:538-549.
209. Lamba D.A., Gust J., Reh T.A. Transplantation of human embryonic stem cell-derived photoreceptors restores some visual function in Crx deficient mice. Cell Stem Cell 2009, 4:73-79.
210. Law S.K., Sami M., Piri N., Coleman A.L., Caprioli J. Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation. Mol. Vis. 2011, 17:1231-1238.
211. Lelièvre E.C., Lek M., Boije H., Houill-Vernes L., Brajeul V., Slembrouck A., Roger J.E., Sahel J.A., Matter J.M., Sennlaub F., Hallböök F., Goureau O., Guillonneau X. Ptf1a/Rbpj complex inhibits ganglion cell fate drives the specification of all horizontal cell subtypes in the chick retina. Dev. Biol. 2011, 358:296-308.
212. Lelivelt M.J., Culbertson M.R. Yeast Upf proteins required for RNA surveillance affect global expression of the yeast transcriptome. Mol. Cell. Biol. 1999, 19:6710-6719.
213. Lerner L.E., Peng G.H., Chen S., Farber D.B. Sp4 is expressed in retinal neurons, activates transcription of photoreceptor-specific genes, and synergizes with Crx. J. Biol. Chem. 2005, 280:20642-20650.
214. Levine E.M., Roelink H., Turner J., Reh T.A. Sonic hedgehog promotes rod photoreceptor differentiation in mammalian retinal cells in vitro. J. Neurosci. 1997, 17:6277-6288.
215. Leuzinger S., Hirth F., Gerlich D., Acampora D., Simeone A., Gerhring W.J., Finkelstein R., Furukubo-Tokunaga K., Reichert H. Equivalence of the fly orthodenticle gene and the human OTX genes in embryonic brain development. Development 1998, 125:1703-1710.
216. Lillien L., Cepko C. Control of proliferation in the retina: temporal changes in responsiveness to FGF and TGF alpha. Development 1992, 115:253-266.
217. Li S., Mo Z., Yang X., Price S.M., Shen M.M., Xiang M. Foxn4 controls the genesis of amacrine and horizontal cells by retinal progenitors. Neuron 2004, 43:795-807.
218. Li L., Li B., Zhang H., Bai S., Wang Y., Zhao B., Jonas J.B. Lentiviral vector mediated PAX6 overexpression promotes growth and inhibits apoptosis of human retinoblastoma cells. Invest. Ophthalmol. Vis. Sci. 2011, 52:8393-8400.
219. Liu H., Mohamed O., Dufort D., Wallace V.A. Characterization of Wnt signalling components and activation of the Wnt canonical pathway in the murine retina. Dev. Dyn. 2003, 227:323-334.
220. Liu H., Xu S., Wang Y., Mazerolle C., Thurig S., Coles B.L., Ren J.C., Taketo M.M., van der Kooy D., Wallace V.A. Ciliary margin transdifferentiation from neural retina is controlled by canonical Wnt signalling. Dev. Biol. 2007, 308:54-67.
221. Livesey F.J., Cepko C.L. Vertebrate neural cell-fate determination: lessons from the retina. Nat. Rev. Neurosci. 2001, 2:109-118.
222. Livesey F.J., Young T.L., Cepko C.L. An analysis of the gene expression program of mammalian neural progenitor cells. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:1374-1379.
223. Locker M., Agathocleous M., Amato M.A., Parain K., Harris W.A., Perron M. Hedgehog signaling and the retina: Insights into the mechanisms controlling the proliferative properties of neural precursors. Genes Dev. 2006, 20:3036-3048.
224. Logan C.Y., Nusse R. The Wnt signaling pathway in development and disease. Annu. Rev. Cell. Dev. Biol. 2004, 20:781-810.
225. Lorenz B., Wabbels B., Wegscheider E., Hamel C.P., Drexler W., Preising M.N. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 2004, 111:1585-1594.
226. Lu B., Malcuit C., Wang S., Girman S., Francis P., Lemieux L., Lanza R., Lund R. Long-term safety and function of RPE from human embryonic stem cells in preclinical models of macular degeneration. Stem Cells 2009, 27:2126-2135.
227. Luhmann U.F., Meunier D., Shi W., Lüttges A., Pfarrer C., Fundele R., Berger W. Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. Genesis 2005, 42:253-262.
228. MacLaren R.E., Pearson R.A., MacNeil A., Douglas R.H., Salt T.E., Akimoto M., Swaroop A., Sowden J.C., Ali R.R. Retinal repair by transplantation of photoreceptor precursors. Nature 2006, 444:203-207.
229. Maiuri M.C., Zalckvar E., Kimchi A., Kroemer G. Self-eating and self-killing: crosstalk between autophagy and apoptosis. Nat. Rev. Mol. Cell. Biol. 2007, 8:741-752.
230. Mali R.S., Peng G.H., Zhang X., Dang L., Chen S., Mitton K.P. FIZ1 is part of the regulatory protein complex on active photoreceptor-specific gene promoters in vivo. BMC Mol. Biol. 2008, 9:87.
231. Malicki J., Driever W. oko meduzy Mutations affect neuronal patterning in the zebrafish retina and reveal cell-cell interactions of the retinal neuroepithelial sheet. Development 1999, 126:1235-1246.
232. Mancuso K., Hauswirth W.W., Li Q., Connor T.B., Kuchenbecker J.A., Mauck M.C., Neitz J., Neitz M. Gene therapy for red-green colour blindness in adult primates. Nature 2009, 461:784-787.
233. Mann I. Developmental Abnormalities of the Eye 1957, British Medical Association, London. second ed.
234. Manuel M., Georgala P.A., Carr C.B., Chanas S., Kleinjan D.A., Martynoga B., Mason J.O., Molinek M., Pinson J., Pratt T., Quinn J.C., Simpson T.I., Tyas D.A., van Heyningen V., West J.D., Price D.J. Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization. Development 2007, 134:545-555.
235. Mao C.A., Tsai W.W., Cho J.H., Pan P., Barton M.C., Klein W.H. Neuronal transcriptional repressor REST suppresses an Atoh7-independent program for initiating retinal ganglion cell development. Dev. Biol. 2011, 349:90-99.
236. Mao C.A., Wang S.W., Pan P., Klein W.H. Rewiring the retinal ganglion cell gene regulatory network: Neurod1 promotes retinal ganglion cell fate in the absence of Math5. Development 2008, 135:3379-3388.
237. Marino G., Madeo F., Kroemer G. Autophagy for tissue homeostasis and neuroprotection. Curr. Opin. Cell. Biol. 2011, 23:198-206.
238. Marneros A.G., Fan J., Yokoyama Y., Gerber H.P., Ferrara N., Crouch R.K., Olsen B.R. Vascular endothelial growth factor expression in the retinal pigment epithelium is essential for choriocapillaris development and visual function. Am. J. Pathol. 2005, 167:1451-1459.
239. Marquardt T.R., Ashery-Padan R., Andrejewski N., Scardigli R., Guillemot F., Gruss P. Pax6 is required for the multipotent state of retinal progenitor cells. Cell 2001, 105:43-55.
240. Marquardt T., Gruss P. Generating neuronal diversity in the retina: one for nearly all. Trends Neurosci. 2002, 25:32-38.
241. Martinez-Morales J.R., Signore M., Acampora D., Simeone A., Bovolenta P. Otx genes are required for tissue specification in the developing eye. Development 2001, 128:2019-2030.
242. Martinez-Morales J.R., Dolez V., Rodrigo I., Zaccarini R., Leconte L., Bovolenta P., Saule S. OTX2 activates the molecular network underlying retina pigment epithelium differentiation. J. Biol. Chem. 2003, 278:21721-21731.
243. Masai I., Lele Z., Yamaguchi M., Komori A., Nishiwaki Y., Wada H., Tanaka H., Nojima Y., Hammerschmidt M., Wilson S.W., Okamoto H. N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neuritis. Development 2003, 130:2479-2494.
244. Massie C.E., Mills I.G. Mapping protein-DNA interactions using ChIP-sequencing. Methods Mol. Biol. 2012, 809:157-173.
245. Mathers P.H., Grinberg A., Mahon K.A., Jamrich M. The Rx homeobox gene is essential for vertebrate eye development. Nature 1997, 387:603-607.
246. Matt N., Ghyselinck N.B., Pellerin I., Dupé V. Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis. Dev. Biol. 2008, 320:140-148.
247. McUsic A.C., Lamba D.A., Reh T.A. Guiding the morphogenesis of dissociated newborn mouse retinal cells and hES cell-derivedretinal cells by soft lithography-patterned microchannel PLGA scaffolds. Biomaterials 2012, 33:1396-1405.
248. Mears A.J., Kondo M., Swain P.K., Takada Y., Bush R.A., Saunders T.L., Sieving P.A., Swaroop A. Nrl is required for rod photoreceptor development. Nat. Genet. 2001, 29:447-452.
249. Mehalow A.K., Kameya S., Smith R.S., Hawes N.L., Denegre J.M., Young J.A., Bechtold L., Haider N.B., Tepass U., Heckenlively J.R., Chang B., Naggert J.K., Nishina P.M. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum. Mol. Genet. 2003, 12:2179-2189.
250. Mellen M.A., de la Rosa E.J., Boya P. The autophagic machinery is necessary for removal of cell corpses from the developing retinal neuroepithelium. Cell Death Diff. 2008, 15:1279-1290.
251. Mellen M.A., de la Rosa E.J., Boya P. Autophagy is not universally required for phosphatidyl-serine exposure and apoptotic cell engulfment during neural development. Autophagy 2009, 5:964-972.
252. Mellough C.B., Sernagor E., Moreno-Gimeno I., Steel D.H., Lako M. Efficient stage-specific differentiation of human pluripotent stem cells toward retinal photoreceptor cells. Stem Cells 2012, 30:673-686.
253. Menger N., Pow D.V., Wässle H. Glycineric amacrine cells of the rat retina. J. Comp. Neurol. 1998, 401:34-46.
254. Métrailler S., Schoderet D.F., Cottet S. Early apoptosis in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes. Exp. Eye Res. 2012, 96:70-81.
255. Mishra M., Oke A., Lebel C., McDonald E.C., Plummer Z., Cook T.A., Zelhof A.C. Pph13 and orthodenticle define a dual regulatory pathway for photoreceptor cell morphogenesis and function. Development 2010, 137:2895-2904.
256. Mitton K.P., Swain P.K., Chen S., Xu S., Zack D.J., Swaroop A. The leucine zipper of NRL interacts with the CRX homedomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J. Biol. Chem. 2000, 275:29794-29799.
257. Mo Z., Li S., Yang X., Xiang M. Role of the Barhl2 homeobox gene in the specification of glycinergic amacrine cells. Development 2004, 131:1607-1618.
258. Monaghan A.P., Davidson D.R., Sime C., Graham E., Baldock R., Bhattacharya S.S., Hill R.E. The Msh-like homeobox genes define domains in the developing vertebrate eye. Development 1991, 112:1053-1061.
259. Montana C.L., Lawrence K.A., Williams N.L., Tran N.M., Peng G.H., Chen S., Corbo J.C. Transcriptional regulation of neural leucine zipper (Nrl), a photoreceptor cell fate determinant. J. Biol. Chem. 2011, 286:36921-36931.
260. Moosajee M., Gregory-Evans K., Ellis C.D., Seabra M.C., Gregory-Evans C.Y. Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum. Mol. Genet. 2008, 17:3987-4000.
261. Morcillo J., Martinez-Morales J.R., Trousse F., Fermin Y., Sowden J.C., Bovolenta P. Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development 2006, 133:3179-3190.
262. Morrow E.M., Furukawa T., Raviola E., Cepko C.L. Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice. BMC Neurosci. 2005, 6:5.
263. Mosinger-Ogilvie J., Deckwerth T.L., Knudson C.M., Korsmeyer S.J. Suppression of developmental cell death but not of photoreceptor degeneration in Bax-deficient mice. Invest. Ophthalmol. Vis. Sci. 1998, 39:1713-1720.
264. Mu X., Klein W.H. A gene regulatory hierarchy for retinal ganglion cell specification and differentiation. Semin. Cell. Dev. Biol. 2004, 15:115-123.
265. Murali D., Yoshikawa S., Corrigan R.R., Plas D.J., Crair M.C., Oliver G., Lyons K.M., Mishina Y., Furuta Y. Distinct developmental programs require different levels of BMP signaling during mouse retinal development. Development 2005, 132:913-923.
266. Muranishi Y., Terada K., Furukawa T. An essential role for RAX homeoprotein and NOTCH-HES signaling in Otx2 expression in embryonic retinal photoreceptor cell fate determination. J. Neurosci. 2012, 31:16792-17807.
267. Nakano T., Ando S., Takata N., Kawada M., Muguruma K., Sekiguchi K., Saito K., Yonemura S., Eiraku M., Sasai Y. Self-formation of optic cups and storable stratified neural retina from human ESCs. Cell Stem Cell 2012, 10:771-785.
268. Nelson B.R., Hartman B.H., Georgi S.A., Lan M.S., Reh T.A. Transient inactivation of Notch signaling synchronizes differentiation of neural progenitor cells. Dev. Biol. 2007, 304:479-498.
269. Nelson B.R., Hartman B.H., Ray C.A., Hayashi T., Bermingham-McDonogh O., Reh T.A. Acheate-scute like 1 (Ascl1) is required for normal delta-like (Dll) gene expression and notch signaling during retinal development. Dev. Dyn. 2009, 238:2163-2178.
270. Neumann C.J., Nuesslein-Volhard C. Patterning of the zebrafish retina by a wave of sonic hedgehog activity. Science 2000, 289:2137-2139.
271. Ng L., Hurley J.B., Dierks B., Srinivas M., Saltó C., Vennström B., Reh T.A., Forrest D. A thyroid hormone receptor that is required for the development of green cone photoreceptors. Nat. Genet. 2001, 27:94-98.
272. Ng L., Lu A., Swaroop A., Sharlin D.S., Swaroop A., Forrest D. Two transcription factors can direct three photoreceptor outcoems from rod precursor cells in mouse retinal development. J. Neurosci. 2011, 31:11118-11125.
273. Niehrs C. Developmental biology. Solving a sticky problem. Nature 2001, 413:787-788.
274. Nishida A., Furukawa A., Koike C., Tano Y., Aizawa S., Matsuo I., Furukawa T. Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development. Nat. Neurosci. 2003, 6:1255-1263.
275. Nishiguchi K.M., Friedman J.S., Sandberg M.A., Swaroop A., Berson E.L., Dryja T.P. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:17819-17824.
276. Nistor G., Seiler M.J., Yan F., Ferguson D., Keirstead H.S. Three-dimensional early retinal progenitor 3D tissue constructs derived from human embryonicstem cells. J. Neurosci. Methods 2010, 190:63-70.
277. Nowak-Sliwinska P., Storto M., Ballini J.P., Gatz R., Giorgio M., van den Bergh H., Plyte S., Wagnieres G. Angiogenesis inhibition by the maleimide-based small molecule GNX-686. Microvasc. Res. 2012, 83:105-110.
278. Oh E.C., Cheng H., Hao H., Jia L., Khan N.W., Swaroop A. Rod differentiation factor NRL activates the expression of nulear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res. 2008, 1236:16-29.
279. Ohsawa R., Kageyama R. Regulation of retinal cell fate specification by multiple transcription factors. Brain Res. 2008, 1192:90-98.
280. O'Kusky J.R., Ye P., D'Ercole A.J. Insulin-like growth factor-I promotes neurogenesis and synaptogenesis in the hippocampal dentate gyrus during postnatal development. J. Neurosci. 2000, 20:8435-8442.
281. Omori Y., Malicki J. oko meduzy and related crumbs genes are determinants of apical features in the vertebrate embryo. Curr. Biol. 2006, 16:945-957.
282. Onishi A., Peng G.H., Hsu C., Alexis U., Chen S., Blackshaw S. Pias3-dependent SUMOylation directs rod photoreceptor development. Neuron 2009, 61:234-246.
283. Onishi A., Peng G.-H., Poth E.M., Lee D.A., Chen J., lexis U., de Melo J., Chen S., Blackshaw S. The orphan nuclear hormone receptor ERRβ controls rod photoreceptor survival. Proc. Natl. Acad. Sci. U.S.A. 2010, 109:11579-11584.
284. Onishi A., Peng G.-H., Chen S., Blackshaw S. Pias3-dependent SUMOylation controls mammalian cone photoreceptor differentiation. Nat. Neurosci. 2010, 13:1059-1065.
285. Oron-Karni V., Farhy C., Elgart M., Marquardt T., Remizova L., Yaron O., Xie Q., Cvekl A., Ahery-Pada R. Dual requirement for Pax6 in retinal progenitor cells. Development 2008, 135:4037-4047.
286. Osakada F., Ikeda H., Mandai M., Wataya T., Watanabe K., Yoshimura N., Akaike A., Sasai Y., Takahashi M. Toward the generation of rod and cone photoreceptors from mouse, monkey and human embryonic stem cells. Nat. Biotechnol. 2008, 26:215-224.
287. Osakada F., Ooto S., Akagi T., Mandai M., Akaike A., Takahashi M. Wnt signaling promotes regeneration in the retina of adult mammals. J. Neurosci. 2007, 27:4210-4219.
288. Ozeki H., Ogura Y., Hirabayashi Y., Shimada S. Apoptosis is associated with formation and persistence of the embryonic fissure. Curr. Eye Res. 2000, 20:367-372.
289. Pearson R.A., Barber A.C., West E.L., MacLaren R.E., Duran Y., Bainbridge J.W., Sowden J.C., Ali R.R. Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wildtype and degenerating retina. Cell Transplant. 2010, 19:487-503.
290. Penfold P.L., Provis J.M., Madigan D., van Driel D., Billson F.A. Angiogenesis in normal human retinal development. The involvement of astrocytes and macrophages. Graefe's Arch. Clin. Exp. Ophthalmol. 1990, 228:255-263.
291. Peng G.H., Ahmad O., Ahmad F., Liu J., Chen S. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on transcription of rod versus cone genes. Hum. Mol. Genet. 2005, 14:747-764.
292. Pera E.M., Wessely O., Li S.Y., De Robertis E.M. Neural and head induction by insulin-like growth factor signals. Dev. Cell. 2001, 1:655-665.
293. Perveen R., Lloyd I.C., Clayton-Smith J., Churchill A., van Heyningen V., Hanson I., Taylor D., McKeown C., Super M., Kerr B., Winter R., Black G.C. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest. Ophthalmol. Vis. Sci. 2000, 41:2456-2460.
294. Phng L.-I., Potente M., Leslie J.D., Babbage J., Nyqvist D., Lobov I., Ondr J.K., Rao S., Lang R.A., Thurston G., Gerhardt H. Narp coordinates endothelial Notch and Wnt signalling to control vessel density in angiogenesis. Dev. Cell. 2009, 16:70-82.
295. Pierfelice T., Alberi L., Gaianio N. Notch in the vertebrate nervous system: an old dog with new tricks. Neuron 2011, 69:840-855.
296. Pignatelli V., Cepko C.L., Strettoi E. Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis. J. Comp. Neurol. 2004, 469:351-359.
297. Péquignot M.O., Provost A.C., Salle S., Taupin P., Sainton K.M., Marchant D., Martinou J.C., Ameisen J.C., Jais J.P., Abitol M. Major role of BAX in apoptosis during retinal development and in establishment of a functional postnatal retina. Dev. Dyn. 2003, 228:231-238.
298. Poggi L., Vitorino M., Masai I., Harris W.A. Influences on neural lineage and mode of division in the zebrafish retina in vivo. J. Cell. Biol. 2005, 171:991-999.
299. Poché R.A., Raven M.A., Kwan K.M., Furuta Y., Behringer R.R., Reese B.E. Sonal positioning and dendritic growth of horizontal cells are regulated by interactions with homotypic neighbors. Eur. J. Neurosci. 2008, 27:1607-1614.
300. Prado-Lopez S., Conesa A., Arminan A., Martinez-Losa M., Escobedo-Lucea C., Gandia C., Tarazona S., Melguizo D., Blesa D., Montaner D., Sanz-Gonzalez S., Sepulveda P., Gotz S., O'Coner J.E., Moreno R., Dopazo J., Burks D.J., Stojkovic M. Hypoxia promotes efficient differentiation of human embryonic stem cells to functional endothelium. Stem Cells 2010, 28:407-418.
301. Prasov L., Masud T., Khaliq S., Mehdi S.Q., Abid A., Oliver E.R., Silva E.D., Lewanda A., Brodsky M.C., Borchert M., Kelberman D., Snowden J.C., Dattani M.T., Glaser T. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum. Mol. Genet. 2012, 21:3681-3694.
302. Pressman C.L., Chen H., Johnson R.L. Lmx1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 2000, 26:15-25.
303. Provis J.M. Patterns of cell death in the ganglion cell layer of the human fetal retina. J. Comp. Neurol. 1987, 259:237-246.
304. Provis J.M. Development of the primate retinal vasculature. Progr. Ret. Eye Res. 2010, 20:799-821.
305. Provis J.M., van Driel D., Billson F.A., Russell P. Development of the human retina: patterns of cell distribution and redistribution in the ganglion cell layer. J. Comp. Neurol. 1985, 233:429-451.
306. Provis J.M., Hendrickson A.E. The foveal avascular region of the developing human retina. Arch. Ophthalmol. 2008, 126:507-511.
307. Qin M., Hayashi H., Oshima K., Tahira T., Hayashi K., Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. Hum. Mutat. 2005, 26:104-112.
308. Qu X., Zou Z., Sun Q., Luby-Phelps K., Cheng P., Hogan R.N., Gilpin C., Levine B. Autophagy gene-dependent clearance of apoptotic cells during embryonic development. Cell 2007, 128:931-946.
309. Radick P., Riley K.P. Overproduction and elimination of retinal axons in the fetal rhesus monkey. Science 1983, 219:1441-1444.
310. 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., Collin J.R., Salt A., Cooper S.T., Thompson P.J., Sisodiya S.M., Williamson K.A., Fitzpatrick D.R., van Heyningen V., Hanson I.M. Heterozygous mutations of OTX2 cause severe ocular malformations. Am. J. Hum. Genet. 2005, 76:1008-1022.
311. Rapaport D.H., Wong L.L., Wood E.D., Yasumura D., LaVail M.M. Timing and topography of cell genesis in the rat retina. J. Comp. Neurol. 2004, 474:304-324.
312. Ravikumar B., Vacher C., Berger Z., Davies J.E., Luo S., Oroz L.G., Scaravilli F., Easton D.F., Duden R., O'Kane C.J., Rubinsztein D.C. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat. Genet. 2004, 36:585-595.
313. Reh T.A., Lamba D., Gust J. Directing human embryonic stem cells to a retinal fate. Methods Mol. Biol. 2010, 636:139-153.
314. Ren D., Tu H.-C., Kim H., Wang G.X., Bean G.R., Takeuchi O., Jefferes J.R., Zambetti G.P., Hsieh J.J.-D., Cheng E.H.-Y. BID, BIM, and PUMA are essential for activation of the BAX- and BAK-dependent cell death program. Science 2010, 330:1390-1393.
315. Richter M., Gottanka J., May C.A., Welge-Lussen U., Berger W., Lutjen-Drecoll E. Retinal vasculature changes in Norrie disease mice. Invest. Ophthalmol. Vis. Sci. 1998, 39:2450-2457.
316. Riesenberg A.N., Liu Z., Kopan R., Brown N.L. Rbpj cell autonomous regulation of retinal ganglion cell and cone photoreceptor fates in the mouse retina. J. Neurosci. 2009, 29:12865-12877.
317. Robitaille J., MacDonald M.L., Kaykas A., Sheldahl L.C., Zeisler J., Dubé M.P., Zhang L.H., Singaraja R.R., Guernsey D.L., Zheng B., Siebert L.F., Hoskin-Mott A., Trese M.T., Pimstone S.N., Shastry B.S., Moon R.T., Hayden M.R., Goldberg Y.P., Samuels M.E. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat. Genet. 2002, 32:326-330.
318. Robitaille J.M., Wallace K., Zheng B., Beis M.J., Samuels M., Hoskin-Mott A., Guernsey D.L. Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees. Ophthalmic Genet. 2009, 30:23-30.
319. Roberts M.R., Hendrickson A., McGuire C.R., Reh T.A. Retinod X receptor (gamma) is necessary for normal cone opsin expression during mouse retinal development. Invest. Ophthalmol. Vis. Sci. 2005, 49:2039-2045.
320. Roberts M.R., Srinivas M., Forrest D., Morreale de Escobar G., Reh T.A. Making the gradient: thyroid hormone regulates cone opsin expression in the developing mouse retina. Proc. Natl. Acad. Sci. U.S.A. 2006, 103:6218-6223.
321. Rocha S.F., Lopes S.S., Gossler A., Henrique D. Dll1 and Dll4 function sequentially in the retina and pV2 domain of the spinal cord to regulate neurogenesis and create cell diversity. Dev. Biol. 2009, 328:54-65.
322. Roesch K., Jadhav A.P., Trimarchi J.M., Stadler M.B., Roska B., Sun B.B., Cepko C.L. The transcriptome of retinal Müller glial cells. J. Comp. Neurol. 2008, 509:225-238.
323. Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.C., Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat. Genet. 1996, 14:357-360.
324. Roger J.E., Nellissery J., Kim D.S., Swaroop A. Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation. J. Biol. Chem. 2010, 285:25637-25644.
325. Rosenbaum D.M., Degterev A., David J., Rosenbaum P.S., Roth S., Grotta J.C., Cuny G.D., Yuan J., Savitz S.I. Necroptosis, a novel form of caspase-independent cell death, contributes to neuronal damage in a retinal ischemia-reperfusion injury model. J. Neurosci. Res. 2010, 88:1569-1576.
326. Rousseau B., Dubayle D., Sennlaub F., Jeanny J.C., Costet P., Bikfalvi A., Javerzat S. Neural and angiogenic defects in eyes of transgenic mice expressing a dominant-negative FGF receptor in the pigmented cells. Exp. Eye Res. 2000, 71:395-404.
327. Saika S., Muragaki Y., Okada Y., Miyamoto T., Ohnishi Y., Ooshima A., Kao W.W. Sonic hedgehog expression and role in healing corneal epithelium. Invest. Ophthalmol. Vis. Sci. 2004, 45:2577-2585.
328. Saint-Geneiz M., D'Amore P.A. Development and pathology of the hyaloid, choroidal and retinal vasculature. Int. J. Dev. Biol. 2004, 48:1045-1058.
329. Saint-Geneiz M., Maldonado A.E., D'Amore P.A. VEGF expression and receptor activation in the choroid during development and in the adult. Invest. Ophthalmol. Vis. Sci. 2006, 47:3135-3142.
330. Sakagami K., Gan L., Yang X.J. Distinct effects of hedgehog signaling on neuronal fate specification and cell cycle progression in the embryonic mouse retina. J. Neurosci. 2009, 29:6932-6944.
331. Sansom S.N., Griffiths D.S., Faedo A., Kleinjan D.J., Ruan Y., Smith J., van Heyningen V., Rubenstein J.L., Livesey F.J. The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. PLoS Genet. 2009, 5:e1000511.
332. Sapieha P., Sirinyan M., Hamel D., Zaniolo K., Joyal J.S., Cho J.H., Honore J.C., Kermorvant-Duchemin E., Varma D.R., Tremblay S., Leduc M., Rihakova L., Hardy P., Klein W.H., Mu X., Mamer O., Lechapelle P., Di Polo A., Beausejour C., Andelfinger G., Mitchell G., Sennlaub F., Chemtob S. The succinate receptor GPR91 in neurons has a major role in retinal angiogenesis. Nat. Med. 2008, 14:1067-1076.
333. Schimmenti L.A., de la Cruz J., Lewis R.A., Karkera J.D., Manligas G.S., Roessler E., Muenke M. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am. J. Med. Genet. A 2003, 116A:215-221.
334. Schuback D.E., Chen Z.Y., Craig I.W., Breakefield X.O., Sims K.B. Mutations in the Norrie disease gene. Hum. Mutat. 1995, 5:285-292.
335. Scicolone G., Ortalli A.L., Carri N.G. Key roles of Ephs and ephrins in retinotectal topographic map formation. Brain Res. Bull. 2009, 79:227-247.
336. Seitz R., Hackl S., Seibuchner T., Tamm E.R., Ohlmann A. Norrin mediates neuroprotective effects on retinal ganglion cells via activation of the Wnt/beta-catenin signaling pathway and the induction of neuroprotective growth factors in Muller cells. J. Neurosci. 2010, 30:5998-6010.
337. Seo S., Singh H.P., Lacal P.M., Sasman A., Fatima A., Liu T., Schultz K.M., Losordo D.W., Lehmann O.J., Kume T. Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:2015-2020.
338. Shastry B.S., Pendergast S.D., Hartzer M.K., Liu X., Trese M.T. Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity. Arch. Ophthalmol. 1997, 115:651-655.
339. Shen Y.-C., Raymond P.A. Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis. Dev. Biol. 2004, 269:237-251.
340. Shkumatava A., Neumann C.J. Shh directs cell-cycle exit by activating p57Kip2 in the zebrafish retina. EMBO Rep. 2005, 6:563-569.
341. 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. 1998, 273:21531-21541.
342. Smith A.J., Bainbridge J.W., Ali R.R. Gene supplementation therapy for recessive forms of inherited retinal dystrophies. Gene Ther. 2012, 19:154-161.
343. Smith J.R., Choi D., Chipps T.J., Pan Y., Zamora D.O., Davies M.H., Babra B., Powers M.R., Planck S.R., Rosenbaum J.T. Uniques gene expression profiles of donor-matched human retinal and choroidal vascular endothelial cells. Invest. Ophthalmol. Vis. Sci. 2007, 48:2676-2684.
344. Sohocki M.M., Sullivan L.S., Mintz-Hittner H.A., Birch D.A., Heckenlively J.R., Freund C.L., McInnes R.R., Daiger S.P. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. Am. J. Hum. Genet. 1998, 63:1307-1315.
345. Srinivas M., Ng L., Liu H., Jia L., Forrest D. Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor β. Mol. Endocrinol. 2006, 20:1728-1741.
346. 2 is efficient, enhances survival and presents no barrier to regional specification and functional differentiation. Cell. Death Differ. 2011, 18:1016-1023.
347. Stalmans I., Ng Y.S., Rohan R., Fruttiger M., Bouché A., Yuce A., Fijisawa H., Hermans B., Shani M., Jansen S., Hicklin D., Anderson D.J., Gardiner T., Hammes H.P., Moons L., Dewerchin M., Collen D., Carmeliet P., D'Amore P.A. Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms. J. Clin. Invest. 2002, 109:327-336.
348. Stigloher C., Ninkovic J., Laplante M., Geling A., Tannhäuser B., Topp S., Kikuta H., Becker T.S., Houart C., Bally-Cuif L. Segregation of telencephalic and eye-field identities inside the zebrafish forebrain territory is controlled by Rx3. Development 2006, 133:2925-2935.
349. Stone J., Maslim J. Mechanisms of retinal angiogenesis. Progr. Ret. Eye Res. 1997, 16:157-181.
350. Stromland K., Pinazo-Duran M.D. Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies. Alcohol Alcohol 2002, 37:2-8.
351. Sugimori M., Nagao M., Bertrand N., Parras C.M., Guillemot F., Nakafuku M. Combinatorial actions of patterning and HLH transcription factors in the spatiotemporal control of neurogenesis and gliogenesis in the developing spinal cord. Development 2007, 134:1617-1629.
352. Sun L., Wang H., Wang Z., He S., Chen S., Liao D., Wang L., Yan J., Liu W., Lei X., Wang X. Mixed lineage kinase domain-like protein mediates necrosis signaling downstream of RIP3 kinase. Cell 2012, 148:213-227.
353. Surace E.M., Balaggan K.S., Tessitore A., Mussolino C., Cotugno G., Bonetti C., Vitale A., Ali R.R., Auricchio A. Inhibition of ocular neovascularization by hedgehog blockade. Mol. Ther. 2006, 13:573-579.
354. Swain P.K., Chen S., Wang Q.L., Affatigato L.M., Brady K.D., Fishman G.A., Jacobson S.G., Swaroop A., Stone E., Sieving P.A., Zack D.J. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron 1997, 19:1329-1336.
355. Swaroop A., Xu J., Pawar H., Jackson A., Skolnick C., Agarwal N. A conserved retina-specific genes encodes a basic motif/leucine zipper domain. Proc. Natl. Acad. Sci. U.S.A. 1992, 89:266-270.
356. Swaroop A., Kim D., Forrest D. Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nat. Rev. Neurosci. 2010, 11:563-576.
357. Takahashi M., Palmer T.D., Takahashi J., Gage F.H. Widespread integration and survival of adult-derived neural progenitor cells in the developing optic retina. Mol. Cell. Neurosci. 1998, 12:340-348.
358. Takahashi M., Osumi N. Pax6 regulates specification of ventral neuron subtypes in the hindbrain by establishing progenitor domains. Development 2002, 129:1327-1338.
359. Take-uchi M., Clarke J.D., Wilson S.W. Hedgehog signalling maintains the optic stalk-retinal interface through the regulation of Vax gene activity. Development 2003, 130:955-968.
360. Talks S.J., Ebenezer N., Hykin P., Adams G., Yang F., Schulenberg E., Gregory-Evans K., Gregory-Evans C.Y. De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity. J. Med. Genet. 2001, 38:e46.
361. Tamimi Y., Skarie J.M., Footz T., Berry F.B., Link B.A., Walter M.A. FGF19 is a target for FOXC1 regulation in ciliary body-derived cells. Hum. Mol. Genet. 2006, 15:3229-3240.
362. Tahayato A., Sonneville R., Pichaud F., Wernet M.F., Papatsenko D., Beaufils P., Cook T., Desplan C. Otd/Crx, a dual regulator for the specification of ommatidia subtypes in the Drosophila retina. Dev. Cell. 2003, 5:391-402.
363. Takizawa T., Nakashima K., Namihira M., Ochiai W., Uemura A., Yanagisawa M., Fujita N., Nakao M., Taga T. DNA methylation is a critical cell-intrinsic determinant of astrocyte differentiation in the fetal brain. Dev. Cell. 2001, 1:749-958.
364. Terrell D., Xie B., Workman M., Mahato S., Zelhof A., Gebelein B., Cook T. OTX2 and CRX rescue overlapping and photoreceptor-specific functions in the Drosophila eye. Dev. Dyn. 2012, 241:215-228.
365. Tetreault N., Champagne M.P., Bernier G. The LIM homeodomain transcription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation. Dev. Biol. 2009, 327:541-550.
366. Thut C.J., Rountree R.B., Hwa M., Kingsley D.M. A large-scale in situ screen provides molecular evidence for the induction of eye anterior segment structures by the developing lens. Dev. Biol. 2001, 231:63-76.
367. Tian N.M., Pratt T., Price D.J. Foxg1 regulates axon pathfinding by repressing ipsilateral program in nasal retina and by causing optic chisam cells to exert a net axonal growth-promoting activity. Development 2008, 135:4081-4089.
368. Tomita K., Ishibashi M., Nakahara K., Ang S.-L., Nakanishi S., Guillemot F., Kageyama R. Mammalian hairy and enhancer of split homolog 1 regulates differentiation of retinal neurons and is essential for eye morphogenesis. Neuron 1996, 16:723-734.
369. 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 1991, 67:1059-1074.
370. Toomes C., Bottomley H.M., Jackson R.M., Towns K.V., Scott S., Mackey D.A., Craig J.E., Jiang L., Yang Z., Trembath R., Woodruff G., Gregory-Evans C.Y., Gregory-Evans K., Parker M.J., Black G.C., Downey L.M., Zhang K., Inglehearn C.F. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am. J. Hum. Genet. 2004, 74:721-730.
371. Torborg C.L., Feller M.B. Spontaneous patterned retinal activity and the refinement of retinal projections. Prog. Neurobiol. 2005, 76:213-235.
372. Torres M., Gómez-Pardo E., Gruss P. Pax2 contributes to inner ear patterning and optic nerve trajectory. Development 1996, 122:3381-3391.
373. Traiffort E., Moya K.L., Faure H., Hässig R., Ruat M. High expression and anterograde axonal transport of aminoterminal sonic hedgehog in the adult hamster brain. Eur. J. Neurosci. 2001, 14:839-850.
374. Trichonas G., Murakami Y., Thanos A., Morizane Y., Kayama M., Debouck C.M., Hisatomi T., Miller J.W., Vavvas D.G. Receptor interacting protein kinases mediate retinal detachment-induced photoreceptor necrosis and compensate for inhibition of apoptosis. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:21695-21700.
375. Trimarchi J.M., Stadler M.B., Roska B., Billings N., Sun B., Bartch B., Cepko C.L. Molecular heterogeneity of developingretinal ganglion and amacrine cells revealed through single cell gene expression profiling. J. Comp. Neurol. 2007, 502:1047-1065.
376. Trimarchi J.M., Stadler M.B., Cepko C.L. Individual retinal progenitor cells display extensive heterogeneity of gene expression. PLoS One 2008, 13:e1588.
377. Trimarchi J.M., Cho S.H., Cepko C.L. Identification of genes expressed preferentially in the developing peripheral margin of the optic cup. Dev. Dyn. 2009, 238:2327-2329.
378. Tsujimoto Y., Shimizu S. Another way to die: autophagic programmed cell death. Cell. Death Differ. 2005, 12:1528-1534.
379. Tsybovsky Y., Molday R.S., Palczewski K. The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease. Adv. Exp. Med. Biol. 2010, 703:105-125.
380. Tummala P., Mali R.S., Guzman E., Zhang X., Mitton K.P. Temporal ChIP-on-chip of RNA-polymerase-II to detect novel gene activation events during photoreceptor maturation. Mol. Vis. 2010, 16:252-271.
381. Turner D.L., Cepko C.L. A common progenitor for neurons and glia persists in rat retina late in development. Nature 1987, 328:131-136.
382. Tzoulaki I., White I.M.S., Hanson I.M. PAX6 mutations: genotype-phenotype correlations. BMC Genet. 2005, 6:27.
383. Valenciano A.I., Boya P., de la Rosa E.J. Early neuronal cell death: numbers and cues from the developing neuroretina. Int. J. Dev. Biol. 2009, 53:1515-1528.
384. Vandenabeele P., Galluzzi L., Vanden-Berghe T., Kroemer G. Molecular mechanisms of necroptosis: an ordered cellular explosion. Nat. Rev. Mol. Cell. Biol. 2010, 11:700-714.
385. Vandendries E.R., Johnson D., Reinke R. Orthodenticle is required for photoreceptor cell development in the Drosophila eye. Dev. Biol. 1996, 173:243-255.
386. Vaney D.I. The mosaic of amacrine cells in the mammalian retina. Progr. Ret. Res. 1990, 9:49-100.
387. van de Pavert S.A., Kantardzhieva A., Malysheva A., Meuleman J., Versteeg I., Levelt C., Klooster J., Geiger S., Seeliger M.W., Rashbass P., Le Bivic A., Wijnholds J. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. J. Cell. Sci. 2004, 117:4169-4177.
388. van de Pavert S.A., Sanz Sanz A., Aartsen W.M., Vos R.M., Versteeg I., Beck S.C., Klooster J., Seeliger M.W., Wijnholds J. Crb1 is a determinant of retinal apical Müller glia cell features. Glia 2007, 55:1486-1497.
389. van Raay T.J., Moore K.B., Iordanova I., Steele M., Jamrich M., Harris W.A., Vetter M.L. Frizzled 5 signaling governs the neural potential of progenitors in the developing Xenopus retina. Neuron 2005, 46:23-36.
390. van Rossum A.G., Aartsen W.M., Meuleman J., Klooster J., Malysheva A., Versteeg I., Arsanto J.P., Le Bivic A., Wijnholds J. Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells. Hum. Mol. Genet. 2006, 15:2659-2672.
391. Venkatesan B., Prabhu S.D., Venkatachalam K., Mummidi S., Valente A.J., Clark R.A., Delafontaine P., Chandrasekar B. WNT-1 inducible signaling pathway protein-1 activates diverse cell survival pathways and blocks doxorubicin-induced cardiomyocyte death. Cell. Signal. 2010, 22:809-820.
392. Viringipurampeer I.A., Ferreira T., Demaria S., Yoon J.J., Shan X., Moosajee M., Gregory-Evans K., Ngai J., Gregory-Evans C.Y. Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development. Hum. Mol. Genet. 2012, 21:2357-2369.
393. Vollrath D., Jaramillo-Babb V.L., Clough M.V., McIntosh I., Scott K.M., Lichter P.R., Richards J.E. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella syndrome. Hum. Mol. Genet. 1998, 7:1091-1098.
394. Voronina V.A., Kozhemyakina E.A., O'Kernick C.M., Kahn N.D., Wenger S.L., Linberg J.V., Schneider A.S., Mathers P.H. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum. Mol. Genet. 2004, 13:315-322.
395. Wall D.S., Mears A.J., McNeill B., Mazerolle C., Thurig S., Wang Y., Kageyama R., Wallace V. Progenitor cell proliferation in the retina is dependent on Notch-independent sonic hedgehog/Hes1 activity. J. Cell. Biol. 2009, 184:101-112.
396. Wallace V.A. Proliferative and cell fate effects of hedgehog signaling in the vertebrate retina. Brain Res. 2008, 1192:61-75.
397. Wallace V.A. Concise review: making a retina - from the building blocks to clinical applications. Stem Cells 2011, 29:412-417.
398. Wallace V.A., Raff M.C. A role for sonic hedgehog in axon-to-astrocyte signalling in the rodent optic nerve. Development 1999, 126:2901-2909.
399. Wan J., Zheng H., Xiao H.L., She Z.J., Zhou G.M. Sonic hedgehog promotes stem-cell potential of Muller glia in the mammalian retina. Biochem. Biophys. Res. Commun. 2007, 363:347-354.
400. Wang S.W., Kim B.S., Ding K., Wang H., Sun D., Johnson R.L., Klein W.H., Gan L. Requirement for math5 in the development of retinal ganglion cells. Genes Dev. 2001, 15:24-29.
401. Wang Y., Dakubo G.D., Thurig S., Mazerolle C.J., Wallace V.A. Retinal ganglion cell-derived sonic hedgehog locally controls proliferation and the timing of RGC development in the embryonic mouse retina. Development 2005, 132:5103-5113.
402. Wang Y.P., Dakubo G., Howley P., Campsall K.D., Mazarolle C.J., Shiga S.A., Lewis P.M., McMahon A.P., Wallace V.A. Development of normal retinal organization depends on sonic hedgehog signaling from ganglion cells. Nat. Neurosci. 2002, 5:831-832.
403. Wang, X., Gregory-Evans, K., Gregory-Evans, C.Y. Identification of the downstream targets of Pax6 in the developing iris. EMBO J, in review.
404. Wässle H., Puller C., Müller F., Haverkamp S. Cone contacts, mosaics, and territories of bipolar cells in the mouse retina. J. Neurosci. 2009, 29:106-117.
405. West E.L., Pearson R.A., MacLaren R.E., Sowden J.C., Ali R.R. Cell transplantation strategies for retinal repair. Prog. Brain Res. 2009, 175:3-21.
406. West E.L., Pearson R.A., Duran Y., Gonzalez-Cordero A., Maclaren R.E., Smith A.J., Sowden J.C., Ali R.R. Manipulation of the recipient retinal environment by ectopic expression of neurotrophic growth factors can improve transplanted photoreceptor integration and survival. Cell Transplant. 2012, 21:871-887.
407. Westenskow P.D., McKean J.B., Kubo F., Nakagawa S., Fuhrmann S. Ectopic Mitf in the embryonic chick retina by co-transfection of β-catenin and Otx2. Invest. Ophthalmol. Vis. Sci. 2010, 51:5328-5335.
408. Wetts R., Fraser S.E. Multipotent precursors can give rise to all major cell types of the frog retina. Science 1988, 239:1141-1145.
409. White F.A., Keller-Peck C.R., Knudson C.M., Korsmeyer S.J., Snider W.D. Widespread elimination of naturally occurring neuronal death in Bax-deficient mice. J. Neurosci. 1998, 18:1428-1439.
410. Wilkinson D.G. Topographic mapping: organizing by repulsion and competition?. Curr. Biol. 2000, 10:R447-R451.
411. Wilschanski M., Miller L.L., Shoseyov D., Blau H., Rivlin J., Aviram M., Cohen M., Armoni S., Yaakov Y., Pugatch T., Cohen-Cymberknoh M., Miller N.L., Reha A., Northcutt V.J., Hirawat S., Donnelly G.L., Elfring G.L., Ajayi T., Kerem E. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur. Respir. J. 2011, 38:59-69.
412. Wolkenberg S.E., Zhao Z., Kapitskaya M., Webber A.L., Petrukhin K., Tang Y.S., Dean D.C., Hartman G.D., Lindsley C.W. Bioorg. Med. Chem. Lett. 2006, 16:5001-5004.
413. Wong R.O., Hughes A. Role of cell death in the topogenesis of neuronal distributions in the developing cat retinal ganglion cell layer. J. Comp. Neurol. 1987, 262:496-511.
414. Wong L.L., Rappaport D.H. Defining retinal progenitor cell competence in Xenopus laevis by clonal analysis. Development 2009, 136:1707-1715.
415. Wu J., Zhang S., Sun X. Neuroprotective effect of upregulated sonic hedgehog in retinal ganglion cells following chronic ocular hypertension. Invest. Ophthalmol. Vis. Sci. 2010, 51:2986-2992.
416. Wyatt A., Bakrania P., Bunyan D.J., Osborne R.J., Crolla J.A., Salt A., Ayuso C., Newbury-Ecob R., Abou-Rayyah Y., Collin J.R., Robinson D., Ragge N. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum. Mutat. 2008, 29:E278-E283.
417. Xia C.H., Yablonka-Reuveni Z., Gong X. LRP5 is required for vascular development in deeper layers of the retina. PLoS One 2010, 5:e11676.
418. Xu P.-X., Woo I., Her H., Beier D.R., Maas R.L. Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development 1997, 124:219-231.
419. Xu Q., Wang Y., Dabdoub A., Smallwood P.M., Williams J., Woods C., Kelley M.W., Jiang L., Tasman W., Zhang K., Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 2004, 116:883-895.
420. Yamaguchi M., Tonou-Fujimori N., Komori A., Maeda R., Nojima Y., Li H., Okamoto H., Masai I. Histone deacetylase 1 regulates retinal neurogenesis in zebrafish by suppressing Wnt and Notch signaling pathways. Development 2005, 132:3027-3043.
421. Yamaguchi M., Imai F., Tonou-Fujimori N., Masai I. Mutations in N-cadherin and a Stardust homolog, Nagie oko, affect cell-cycle exit in zebrafish retina. Mech. Dev. 2010, 127:247-264.
422. Yanai A., Laver C., Metcalfe A., Lin J., Gregory-Evans C.Y., Gregory-Evans K. Size-controlled embryoid bodies trigger rapid and synchronized differentiation of hESCs into retinal progenitor cells. J. Tissue Engr. Regen. Med. 2012, 21:1137-1148.
423. Yaron O., Farhy C., Marquardt T., Applebury M., Ashery-Padan R. Notch1 functions to suppress cone-photoreceptor fate specification in the developing mouse retina. Development 2006, 133:1367-1378.
424. Ye X., Wang Y., Cahill H., Yu M., Badea T.C., Smallwood P.M., Peachey N.S., Nathans J. Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization. Cell 2009, 139:285-298.
425. Ye X., Wang Y., Nathans J. The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. Trends Mol. Med. 2010, 16:417-425.
426. Ye X., Smallwood P., Nathans J. Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. Gene Exp. Patterns 2011, 11:151-155.
427. Young R.W. Cell death during differentiation of the retina in the mouse. J. Comp. Neurol. 1984, 229:362-373.
428. Yu J., Zhang L. PUMA, a potent killer with or without p53. Oncogene 2008, 27(Suppl. 1):S71-S83.
429. Yun S., Saijoh Y., Hirokawa K.E., Kopinke D., Murtaugh L.C., Monuki E.S., Levine E.M. Lhx2 links the intrinsic and extrinsic factors that control optic cup formation. Development 2009, 136:3895-3906.
430. Zhang H., Zhou X., McQuade T., Li J., Chan F.K., Zhang J. Functional complementation between FADD and RIP1 in embryos and lymphocytes. Nature 2011, 471:373-376.
431. Zhang X., Zhang A., Friedman A., Heaney S., Purcell P., Maas R.L. Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev. 2002, 16:2097-2107.
432. Zhang X.M., Yang X.J. Regulation of retinal ganglion cell production by Sonic hedgehog. Development 2001, 128:943-957.
433. Zhao S., Overbeek P.A. Regulation of choroid development by the retinal pigment epithelium. Mol. Vis. 2001, 7:277-282.
434. Zhao S., Chen Q., Hung F.C., Overbeek P.A. BMP signalling is required for development of the ciliary body. Development 2002, 129:4435-4442.
435. Zheng M.H., Shi M., Pei Z., Gao F., Han H., Ding Y.Q. The transcription factor RBP-J is essential for retinal cell differentiation and lamination. Mol. Brain 2009, 2:38.
436. Zoncu R., Efeyan A., Sabatini D.M. mTOR: from growth signal integration to cancer, diabetes and ageing. Nat. Rev. Mol. Cell. Biol. 2011, 12:21-35.
437. Zuber M.E., Gestri G., Viczian A.S., Barasacchi G., Harris W.G. Specification of the vertebrate eye by a network of eye field transcription factors. Development 2003, 130:5155-5167.
438. Zuercher J., Fritzsche M., Feil S., Mohn L., Berger W. Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of murals cells. Hum. Mol. Genet. 2012, 21:2619-2630.