Pax6

Summary

Gene Symbol: Pax6
Description: paired box 6
Alias: 1500038E17Rik, AEY11, Dey, Gsfaey11, Pax-6, Sey, paired box protein Pax-6, Dickie's small eye, oculorhombin, paired box gene 6
Species: mouse
Products:     Pax6

Top Publications

  1. Yip D, Corcoran C, Alvarez Saavedra M, Demaria A, Rennick S, Mears A, et al. Snf2l regulates Foxg1-dependent progenitor cell expansion in the developing brain. Dev Cell. 2012;22:871-8 pubmed publisher
    ..We demonstrate that Snf2l binds to the Foxg1 locus at midneurogenesis and that the phenotype is rescued by reducing Foxg1 dosage, thus revealing that Snf2l and Foxg1 function antagonistically to regulate brain size. ..
  2. Kerr C, Huang J, Williams T, West Mays J. Activation of the hedgehog signaling pathway in the developing lens stimulates ectopic FoxE3 expression and disruption in fiber cell differentiation. Invest Ophthalmol Vis Sci. 2012;53:3316-30 pubmed publisher
    ..Later, inappropriate expression of the epithelial marker Pax6, and as well as fiber cell markers c-maf and Prox1 also occurred, indicating a failure of appropriate lens fiber ..
  3. Cammas L, Wolfe J, Choi S, Dedhar S, Beggs H. Integrin-linked kinase deletion in the developing lens leads to capsule rupture, impaired fiber migration and non-apoptotic epithelial cell death. Invest Ophthalmol Vis Sci. 2012;53:3067-81 pubmed publisher
    ..To characterize better the function of integrin-linked kinase (ILK), we examined the phenotypic consequences of its deletion in the developing mouse lens...
  4. Robertshaw E, Matsumoto K, Lumsden A, Kiecker C. Irx3 and Pax6 establish differential competence for Shh-mediated induction of GABAergic and glutamatergic neurons of the thalamus. Proc Natl Acad Sci U S A. 2013;110:E3919-26 pubmed publisher
    ..expression of two transcription factors: Iroquois-related homeobox gene 3 (Irx3) posterior to the ZLI, and paired box gene 6 (Pax6) anterior to the forebrain-midbrain boundary...
  5. Shaham O, Gueta K, Mor E, Oren Giladi P, Grinberg D, Xie Q, et al. Pax6 regulates gene expression in the vertebrate lens through miR-204. PLoS Genet. 2013;9:e1003357 pubmed publisher
    ..Recent studies have established a dual role for the transcription factor Pax6 as both an activator and repressor of gene expression in the eye, central nervous system, and pancreas...
  6. Goetz S, Liem K, Anderson K. The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. Cell. 2012;151:847-58 pubmed publisher
    ..We propose that cell-cycle regulators target TTBK2 to the basal body, where it modifies specific targets to initiate ciliogenesis. ..
  7. Ma S, Kwon H, Huang Z. Ric-8a, a guanine nucleotide exchange factor for heterotrimeric G proteins, regulates bergmann glia-basement membrane adhesion during cerebellar foliation. J Neurosci. 2012;32:14979-93 pubmed publisher
  8. Duan D, Fu Y, Paxinos G, Watson C. Spatiotemporal expression patterns of Pax6 in the brain of embryonic, newborn, and adult mice. Brain Struct Funct. 2013;218:353-72 pubmed publisher
    The transcription factor Pax6 has been reported to specify neural progenitor cell fates during development and maintain neuronal commitments in the adult...
  9. Asami M, Pilz G, Ninkovic J, Godinho L, Schroeder T, Huttner W, et al. The role of Pax6 in regulating the orientation and mode of cell division of progenitors in the mouse cerebral cortex. Development. 2011;138:5067-78 pubmed publisher
    ..Successful brain development requires tight regulation of sequential symmetric and asymmetric cell division. Although Pax6 is known to exert multiple roles in the developing nervous system, its role in the regulation of cell division is ..
  10. Dorà N, Collinson J, Hill R, West J. Hemizygous Le-Cre transgenic mice have severe eye abnormalities on some genetic backgrounds in the absence of LoxP sites. PLoS ONE. 2014;9:e109193 pubmed publisher
    Eye phenotypes were investigated in Le-Cre(Tg/-); Pax6(fl/+) mice, which were expected to show tissue-specific reduction of Pax6 in surface ectoderm derivatives...

Detail Information

Publications79

  1. Yip D, Corcoran C, Alvarez Saavedra M, Demaria A, Rennick S, Mears A, et al. Snf2l regulates Foxg1-dependent progenitor cell expansion in the developing brain. Dev Cell. 2012;22:871-8 pubmed publisher
    ..We demonstrate that Snf2l binds to the Foxg1 locus at midneurogenesis and that the phenotype is rescued by reducing Foxg1 dosage, thus revealing that Snf2l and Foxg1 function antagonistically to regulate brain size. ..
  2. Kerr C, Huang J, Williams T, West Mays J. Activation of the hedgehog signaling pathway in the developing lens stimulates ectopic FoxE3 expression and disruption in fiber cell differentiation. Invest Ophthalmol Vis Sci. 2012;53:3316-30 pubmed publisher
    ..Later, inappropriate expression of the epithelial marker Pax6, and as well as fiber cell markers c-maf and Prox1 also occurred, indicating a failure of appropriate lens fiber ..
  3. Cammas L, Wolfe J, Choi S, Dedhar S, Beggs H. Integrin-linked kinase deletion in the developing lens leads to capsule rupture, impaired fiber migration and non-apoptotic epithelial cell death. Invest Ophthalmol Vis Sci. 2012;53:3067-81 pubmed publisher
    ..To characterize better the function of integrin-linked kinase (ILK), we examined the phenotypic consequences of its deletion in the developing mouse lens...
  4. Robertshaw E, Matsumoto K, Lumsden A, Kiecker C. Irx3 and Pax6 establish differential competence for Shh-mediated induction of GABAergic and glutamatergic neurons of the thalamus. Proc Natl Acad Sci U S A. 2013;110:E3919-26 pubmed publisher
    ..expression of two transcription factors: Iroquois-related homeobox gene 3 (Irx3) posterior to the ZLI, and paired box gene 6 (Pax6) anterior to the forebrain-midbrain boundary...
  5. Shaham O, Gueta K, Mor E, Oren Giladi P, Grinberg D, Xie Q, et al. Pax6 regulates gene expression in the vertebrate lens through miR-204. PLoS Genet. 2013;9:e1003357 pubmed publisher
    ..Recent studies have established a dual role for the transcription factor Pax6 as both an activator and repressor of gene expression in the eye, central nervous system, and pancreas...
  6. Goetz S, Liem K, Anderson K. The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. Cell. 2012;151:847-58 pubmed publisher
    ..We propose that cell-cycle regulators target TTBK2 to the basal body, where it modifies specific targets to initiate ciliogenesis. ..
  7. Ma S, Kwon H, Huang Z. Ric-8a, a guanine nucleotide exchange factor for heterotrimeric G proteins, regulates bergmann glia-basement membrane adhesion during cerebellar foliation. J Neurosci. 2012;32:14979-93 pubmed publisher
  8. Duan D, Fu Y, Paxinos G, Watson C. Spatiotemporal expression patterns of Pax6 in the brain of embryonic, newborn, and adult mice. Brain Struct Funct. 2013;218:353-72 pubmed publisher
    The transcription factor Pax6 has been reported to specify neural progenitor cell fates during development and maintain neuronal commitments in the adult...
  9. Asami M, Pilz G, Ninkovic J, Godinho L, Schroeder T, Huttner W, et al. The role of Pax6 in regulating the orientation and mode of cell division of progenitors in the mouse cerebral cortex. Development. 2011;138:5067-78 pubmed publisher
    ..Successful brain development requires tight regulation of sequential symmetric and asymmetric cell division. Although Pax6 is known to exert multiple roles in the developing nervous system, its role in the regulation of cell division is ..
  10. Dorà N, Collinson J, Hill R, West J. Hemizygous Le-Cre transgenic mice have severe eye abnormalities on some genetic backgrounds in the absence of LoxP sites. PLoS ONE. 2014;9:e109193 pubmed publisher
    Eye phenotypes were investigated in Le-Cre(Tg/-); Pax6(fl/+) mice, which were expected to show tissue-specific reduction of Pax6 in surface ectoderm derivatives...
  11. Cappello S, Böhringer C, Bergami M, Conzelmann K, Ghanem A, Tomassy G, et al. A radial glia-specific role of RhoA in double cortex formation. Neuron. 2012;73:911-24 pubmed publisher
    ..These data not only demonstrate that RhoA is largely dispensable for migration in neurons but also showed that defects in radial glial cells, rather than neurons, can be sufficient to produce SBH. ..
  12. Carbe C, Hertzler Schaefer K, Zhang X. The functional role of the Meis/Prep-binding elements in Pax6 locus during pancreas and eye development. Dev Biol. 2012;363:320-9 pubmed publisher
    b>Pax6 is an essential transcription factor for lens, lacrimal gland and pancreas development...
  13. Kim Y, Sharov A, McDole K, Cheng M, Hao H, Fan C, et al. Mouse B-type lamins are required for proper organogenesis but not by embryonic stem cells. Science. 2011;334:1706-10 pubmed publisher
    ..Thus, our studies not only disprove several prevailing views of lamin-Bs but also establish a foundation for redefining the function of the nuclear lamina in the context of tissue building and homeostasis...
  14. Dominguez M, Ayoub A, Rakic P. POU-III transcription factors (Brn1, Brn2, and Oct6) influence neurogenesis, molecular identity, and migratory destination of upper-layer cells of the cerebral cortex. Cereb Cortex. 2013;23:2632-43 pubmed publisher
    ..Finally, we demonstrate that Pou3fs influence multiple stages of neurogenesis by suppressing Notch effector Hes5, and promoting the expression of proneural transcription factors Tbr2 and Tbr1. ..
  15. Ahmad N, Aslam M, Muenster D, Horsch M, Khan M, Carlsson P, et al. Pitx3 directly regulates Foxe3 during early lens development. Int J Dev Biol. 2013;57:741-51 pubmed publisher
    ..These findings enhance our understanding of the molecular cascades which subserve lens development. ..
  16. Liu T, Zhao Y, Tang N, Feng R, Yang X, Lu N, et al. Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing. PLoS ONE. 2012;7:e46934 pubmed publisher
    Heterozygous paired box6 (Pax6) mutations lead to abnormal glucose metabolism in mice older than 6 months as well as in human beings...
  17. Franco S, Gil Sanz C, Martinez Garay I, Espinosa A, Harkins Perry S, Ramos C, et al. Fate-restricted neural progenitors in the mammalian cerebral cortex. Science. 2012;337:746-9 pubmed publisher
    ..Because upper cortical layers were expanded during primate evolution, amplification of this RGC pool may have facilitated human brain evolution. ..
  18. Bharti K, Gasper M, Ou J, Brucato M, Clore Gronenborn K, Pickel J, et al. A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development. PLoS Genet. 2012;8:e1002757 pubmed publisher
    ..Here we show in mice that the transcription factor PAX6, well-known for its retina-promoting activity, also plays a crucial role in early pigment epithelium development...
  19. Upadhya D, Ogata M, Reneker L. MAPK1 is required for establishing the pattern of cell proliferation and for cell survival during lens development. Development. 2013;140:1573-82 pubmed publisher
  20. Mi D, Carr C, Georgala P, Huang Y, Manuel M, Jeanes E, et al. Pax6 exerts regional control of cortical progenitor proliferation via direct repression of Cdk6 and hypophosphorylation of pRb. Neuron. 2013;78:269-84 pubmed publisher
    The mechanisms by which early spatiotemporal expression patterns of transcription factors such as Pax6 regulate cortical progenitors in a region-specific manner are poorly understood...
  21. Du A, McCracken K, Walp E, Terry N, Klein T, Han A, et al. Arx is required for normal enteroendocrine cell development in mice and humans. Dev Biol. 2012;365:175-88 pubmed publisher
    ..Taken together, our findings uncover a novel and conserved role of Arx in mammalian endocrine cell development and provide a potential cause for the chronic diarrhea seen in both humans and mice carrying Arx mutations. ..
  22. Mort R, Bentley A, Martin F, Collinson J, Douvaras P, Hill R, et al. Effects of aberrant Pax6 gene dosage on mouse corneal pathophysiology and corneal epithelial homeostasis. PLoS ONE. 2011;6:e28895 pubmed publisher
    Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies...
  23. Wolf L, Harrison W, Huang J, Xie Q, Xiao N, Sun J, et al. Histone posttranslational modifications and cell fate determination: lens induction requires the lysine acetyltransferases CBP and p300. Nucleic Acids Res. 2013;41:10199-214 pubmed publisher
    ..These cells showed reduced expression of Six3 and Sox2, while expression of Pax6 was not upregulated, indicating discontinuation of lens induction...
  24. Postiglione M, Jüschke C, Xie Y, Haas G, Charalambous C, Knoblich J. Mouse inscuteable induces apical-basal spindle orientation to facilitate intermediate progenitor generation in the developing neocortex. Neuron. 2011;72:269-84 pubmed publisher
    ..Our results indicate that the orientation of progenitor cell divisions is important for correct lineage specification in the developing mammalian brain. ..
  25. Xie Q, Yang Y, Huang J, Ninkovic J, Walcher T, Wolf L, et al. Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. PLoS ONE. 2013;8:e54507 pubmed publisher
    b>Pax6 encodes a specific DNA-binding transcription factor that regulates the development of multiple organs, including the eye, brain and pancreas...
  26. Kiselev Y, Eriksen T, Forsdahl S, Nguyen L, Mikkola I. 3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes. PLoS ONE. 2012;7:e31915 pubmed publisher
    b>Pax6 and Pax6(5a) are two isoforms of the evolutionary conserved Pax6 gene often co-expressed in specific stochiometric relationship in the brain and the eye during development...
  27. Le T, Conley K, Mead T, Rowan S, Yutzey K, Brown N. Requirements for Jag1-Rbpj mediated Notch signaling during early mouse lens development. Dev Dyn. 2012;241:493-504 pubmed publisher
    ..In addition, AP2?-Cre-mediated deletion of Rbpj resulted in embryos with cardiac outflow tract and liver deformities, and perinatal lethality. ..
  28. Fotaki V, Smith R, Pratt T, Price D. Foxg1 is required to limit the formation of ciliary margin tissue and Wnt/?-catenin signalling in the developing nasal retina of the mouse. Dev Biol. 2013;380:299-313 pubmed publisher
    ..Our results reveal a new role of Foxg1 in limiting CM development in the nasal peripheral retina and add a new molecular player in the developmental network involved in CM specification. ..
  29. Douvaras P, Mort R, Edwards D, Ramaesh K, Dhillon B, Morley S, et al. Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridia. PLoS ONE. 2013;8:e71117 pubmed publisher
    ..predictions that limbal epithelial stem cells (LESCs) are quantitatively deficient or qualitatively defective in Pax6(+/-) mice and decline with age in wild-type (WT) mice...
  30. Gil Sanz C, Landeira B, Ramos C, Costa M, M ller U. Proliferative defects and formation of a double cortex in mice lacking Mltt4 and Cdh2 in the dorsal telencephalon. J Neurosci. 2014;34:10475-87 pubmed publisher
    ..Our findings suggest that defects in adherens junctions components in mice massively affects progenitor cell proliferation and leads to a double cortex-like phenotype...
  31. Paschaki M, Lin S, Wong R, Finnell R, Dolle P, Niederreither K. Retinoic acid-dependent signaling pathways and lineage events in the developing mouse spinal cord. PLoS ONE. 2012;7:e32447 pubmed publisher
  32. Balaskas N, Ribeiro A, Panovska J, Dessaud E, Sasai N, Page K, et al. Gene regulatory logic for reading the Sonic Hedgehog signaling gradient in the vertebrate neural tube. Cell. 2012;148:273-84 pubmed publisher
    ..Our findings reveal that morphogen interpretation is an emergent property of the architecture of a transcriptional network that provides robustness and reliability to tissue patterning. ..
  33. Farhy C, Elgart M, Shapira Z, Oron Karni V, Yaron O, Menuchin Y, et al. Pax6 is required for normal cell-cycle exit and the differentiation kinetics of retinal progenitor cells. PLoS ONE. 2013;8:e76489 pubmed publisher
    ..Although the transcription factor Pax6 has been implicated in both proliferation and differentiation of multiple regions within the central nervous system ..
  34. McBride D, Buckle A, van Heyningen V, Kleinjan D. DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region. PLoS ONE. 2011;6:e28616 pubmed publisher
    The PAX6 gene plays a crucial role in development of the eye, brain, olfactory system and endocrine pancreas...
  35. Appolloni I, Calzolari F, Barilari M, Terrile M, Daga A, Malatesta P. Antagonistic modulation of gliomagenesis by Pax6 and Olig2 in PDGF-induced oligodendroglioma. Int J Cancer. 2012;131:E1078-87 pubmed publisher
    ..We investigated the role of Pax6, a neurogenic transcription factor already suggested as a positive prognostic marker for human gliomas, in a well-..
  36. Keady B, Samtani R, Tobita K, Tsuchya M, San Agustin J, Follit J, et al. IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport. Dev Cell. 2012;22:940-51 pubmed publisher
    ..Thus, IFT function is not restricted to building cilia where signaling occurs, but also plays a separable role in signal transduction events. ..
  37. Rainger J, Keighren M, Keene D, Charbonneau N, Rainger J, Fisher M, et al. A trans-acting protein effect causes severe eye malformation in the Mp mouse. PLoS Genet. 2013;9:e1003998 pubmed publisher
    ..The prediction of similar trans-acting protein effects will be an important challenge in the medical interpretation of human mutations from whole exome sequencing. ..
  38. Xie Q, Cvekl A. The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops. J Biol Chem. 2011;286:43259-71 pubmed publisher
    ..The ocular lens is a classical model system to study tissue morphogenesis. Pax6 is essential for both lens placode formation and subsequent stages of lens morphogenesis, whereas c-Maf controls ..
  39. Raviv S, Bharti K, Rencus Lazar S, Cohen Tayar Y, Schyr R, Evantal N, et al. PAX6 regulates melanogenesis in the retinal pigmented epithelium through feed-forward regulatory interactions with MITF. PLoS Genet. 2014;10:e1004360 pubmed publisher
    During organogenesis, PAX6 is required for establishment of various progenitor subtypes within the central nervous system, eye and pancreas...
  40. Ninkovic J, Steiner Mezzadri A, Jawerka M, Akinci U, Masserdotti G, Petricca S, et al. The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network. Cell Stem Cell. 2013;13:403-18 pubmed publisher
    ..Here, we report that the transcription factor Pax6 directly interacts with the Brg1-containing BAF complex in adult neural progenitors...
  41. Walcher T, Xie Q, Sun J, Irmler M, Beckers J, Oztürk T, et al. Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation. Development. 2013;140:1123-36 pubmed publisher
    ..The transcription factor Pax6 regulates patterning, neurogenesis and proliferation in forebrain development...
  42. Hägglund A, Dahl L, Carlsson L. Lhx2 is required for patterning and expansion of a distinct progenitor cell population committed to eye development. PLoS ONE. 2011;6:e23387 pubmed publisher
    ..Thus, we have defined a distinct progenitor cell population in the forebrain committed to eye development and identified genes linked to Lhx2's function in the expansion and patterning of these progenitor cells. ..
  43. Pacal M, Bremner R. Mapping differentiation kinetics in the mouse retina reveals an extensive period of cell cycle protein expression in post-mitotic newborn neurons. Dev Dyn. 2012;241:1525-44 pubmed publisher
    ..The high-resolution map of cell birth kinetics reported here provides a framework to better define mechanisms that regulate neurogenesis. ..
  44. Harada C, Harada T, Nakamura K, Sakai Y, Tanaka K, Parada L. Effect of p75NTR on the regulation of naturally occurring cell death and retinal ganglion cell number in the mouse eye. Dev Biol. 2006;290:57-65 pubmed
    ..These results suggest the different mechanism of RGC number control between mouse and chick retina. ..
  45. Toresson H, Potter S, Campbell K. Genetic control of dorsal-ventral identity in the telencephalon: opposing roles for Pax6 and Gsh2. Development. 2000;127:4361-71 pubmed
    ..The respective roles of Pax6 and Gsh2 in cortical and striatal development were studied in single and double loss-of-function mouse mutants...
  46. Iulianella A, Sharma M, Durnin M, Vanden Heuvel G, Trainor P. Cux2 (Cutl2) integrates neural progenitor development with cell-cycle progression during spinal cord neurogenesis. Development. 2008;135:729-41 pubmed publisher
    ..Thus our work defines novel roles for Cux2 as a transcription factor that integrates cell-cycle progression with neural progenitor development during spinal cord neurogenesis. ..
  47. Weatherbee S, Niswander L, Anderson K. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet. 2009;18:4565-75 pubmed publisher
    ..Thus the disruption of Hh signaling can explain many, but not all, of the defects caused by loss of Mks1...
  48. Davis N, Yoffe C, Raviv S, Antes R, Berger J, Holzmann S, et al. Pax6 dosage requirements in iris and ciliary body differentiation. Dev Biol. 2009;333:132-42 pubmed publisher
    b>Pax6 is a highly conserved transcription factor that controls the morphogenesis of various organs. Changes in Pax6 dosage have been shown to affect the formation of multiple tissues...
  49. Lu Q, Yuk D, Alberta J, Zhu Z, Pawlitzky I, Chan J, et al. Sonic hedgehog--regulated oligodendrocyte lineage genes encoding bHLH proteins in the mammalian central nervous system. Neuron. 2000;25:317-29 pubmed
    ..Gain- and loss-of-function analyses in transgenic mice demonstrate that Shh is both necessary and sufficient for Olg gene expression in vivo. ..
  50. Perez Balaguer A, Puelles E, Wurst W, Martinez S. Shh dependent and independent maintenance of basal midbrain. Mech Dev. 2009;126:301-13 pubmed publisher
    ..Based on our results and recently published data, we suggest the existence of a specific genetic pathway for the specification of the mesencephalic red nucleus. Foxa2 could be the candidate gene that might control this genetic pathway. ..
  51. Heller R, Stoffers D, Liu A, Schedl A, Crenshaw E, Madsen O, et al. The role of Brn4/Pou3f4 and Pax6 in forming the pancreatic glucagon cell identity. Dev Biol. 2004;268:123-34 pubmed
    Brain 4 (Brn4/Pou3f4) and Pax6 are POU-homeodomain and paired-homeodomain transcription factors, respectively, that are expressed in the brain and the glucagon-expressing cells in the pancreas...
  52. Jang E, Goldman J. Pax6 expression is sufficient to induce a neurogenic fate in glial progenitors of the neonatal subventricular zone. PLoS ONE. 2011;6:e20894 pubmed publisher
    ..this mixed population is not clear, although previous studies indicate the importance of two transcription factors, Pax6 in neurons and Olig2 in glia, and suggest there may be reciprocal repression between these genes...
  53. Ribes V, Stutzmann F, Bianchetti L, Guillemot F, Dolle P, Le Roux I. Combinatorial signalling controls Neurogenin2 expression at the onset of spinal neurogenesis. Dev Biol. 2008;321:470-81 pubmed publisher
    ..Our data thus support a model where signal integration at the level of a single enhancer constitutes a key mechanism to control the onset of neurogenesis. ..
  54. Lovicu F, Steven P, Saika S, McAvoy J. Aberrant lens fiber differentiation in anterior subcapsular cataract formation: a process dependent on reduced levels of Pax6. Invest Ophthalmol Vis Sci. 2004;45:1946-53 pubmed
    ..ASC was also examined in lenses of mice haploinsufficient for Pax6, as well as in human biopsy specimens...
  55. Svärd J, Heby Henricson K, Henricson K, Persson Lek M, Rozell B, Lauth M, et al. Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. Dev Cell. 2006;10:187-97 pubmed
    ..Our data demonstrate that, in striking contrast to Drosophila, in mammals, Sufu has a central role, and its loss of function leads to potent ligand-independent activation of the Hh pathway. ..
  56. Kim J, Lauderdale J. Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival. Dev Biol. 2008;313:434-54 pubmed
    The Pax6 transcription factor is required for multiple aspects of vertebrate eye development...
  57. Swindell E, Liu C, Shah R, Smith A, Lang R, Jamrich M. Eye formation in the absence of retina. Dev Biol. 2008;322:56-64 pubmed publisher
    ..One involved in the formation of the eyeball and the second involved in the formation of the auxiliary eye structures. ..
  58. Ou J, Walczysko P, Kucerova R, Rajnicek A, McCaig C, Zhao M, et al. Chronic wound state exacerbated by oxidative stress in Pax6+/- aniridia-related keratopathy. J Pathol. 2008;215:421-30 pubmed publisher
    Heterozygosity for the transcription factor PAX6 causes eye disease in humans, characterized by corneal opacity. The molecular aetiology of such disease was investigated using a Pax6+/- mouse model...
  59. Matsuoka R, Chivatakarn O, Badea T, SAMUELS I, Cahill H, Katayama K, et al. Class 5 transmembrane semaphorins control selective Mammalian retinal lamination and function. Neuron. 2011;71:460-73 pubmed publisher
    ..These findings define a set of ligands and receptors required for the establishment of inner retinal lamination and function. ..
  60. Jones L, Lopez Bendito G, Gruss P, Stoykova A, Molnar Z. Pax6 is required for the normal development of the forebrain axonal connections. Development. 2002;129:5041-52 pubmed
    The transcription factor PAX6 has been implicated in forebrain patterning, cerebral cortical arealization and in development of thalamocortical connections...
  61. Warren N, Price D. Roles of Pax-6 in murine diencephalic development. Development. 1997;124:1573-82 pubmed
    ..Pax-6 may also control some aspects of diencephalic differentiation, but its mutation in Small-eye mice does not preclude the development of a degree of diencephalic regionalization resembling that in normal mice. ..
  62. Gunther T, Struwe M, Aguzzi A, Schughart K. Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord. Development. 1994;120:3119-30 pubmed
    ..The implications of these findings are discussed in the context of dorsoventral patterning of the developing neural tube and compared with known mouse mutants exhibiting similar defects. ..
  63. Favor J, Neuhauser Klaus A. Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus. Mamm Genome. 2000;11:520-5 pubmed
    ..The affected genes have been identified for a number of the recovered mutations including Cryga, Crygb, Cgyge, Pax6, Pax2, Mitf, Lim2, and Cx50...
  64. van Heyningen V, Williamson K. PAX6 in sensory development. Hum Mol Genet. 2002;11:1161-7 pubmed
    b>PAX6 function was first identified through aniridia-associated null mutations...
  65. Bai C, Auerbach W, Lee J, Stephen D, Joyner A. Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway. Development. 2002;129:4753-61 pubmed
    ..Our studies demonstrate that, in mammals, Gli1 is not required for Shh signaling and that Gli2 mediates inappropriate activation of the pathway due to loss of the negative regulator Ptc. ..
  66. McNeill E, Klöckner Bormann M, Roesler E, Talton L, Moechars D, Clagett Dame M. Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development. Dev Biol. 2011;353:331-43 pubmed publisher
    ..This work supports an essential role for full-length Nav2 in cerebellar development, including axonal elongation and migration of the EGL neurons. ..
  67. Chanas S, Collinson J, Ramaesh T, Dorà N, Kleinjan D, Hill R, et al. Effects of elevated Pax6 expression and genetic background on mouse eye development. Invest Ophthalmol Vis Sci. 2009;50:4045-59 pubmed publisher
    To analyze the effects of Pax6 overexpression and its interaction with genetic background on eye development...
  68. De Pietri Tonelli D, Pulvers J, Haffner C, Murchison E, Hannon G, Huttner W. miRNAs are essential for survival and differentiation of newborn neurons but not for expansion of neural progenitors during early neurogenesis in the mouse embryonic neocortex. Development. 2008;135:3911-21 pubmed publisher
    ..5. Our results support the emerging concept that progenitors are less dependent on miRNAs than their differentiated progeny, and raise interesting perspectives as to the expansion of somatic stem cells. ..
  69. Pascual M, Abasolo I, Mingorance Le Meur A, MARTINEZ A, Del Río J, Wright C, et al. Cerebellar GABAergic progenitors adopt an external granule cell-like phenotype in the absence of Ptf1a transcription factor expression. Proc Natl Acad Sci U S A. 2007;104:5193-8 pubmed
    ..Moreover, our results suggest that Ptf1a is also required for the suppression of the granule cell specification program in cerebellar ventricular zone precursors. ..
  70. Kroll T, O Leary D. Ventralized dorsal telencephalic progenitors in Pax6 mutant mice generate GABA interneurons of a lateral ganglionic eminence fate. Proc Natl Acad Sci U S A. 2005;102:7374-9 pubmed
    The transcription factor Pax6 is expressed by progenitors in the ventricular zone (VZ) of dorsal telencephalon (dTel), which generate all cortical glutamatergic neurons, but not by progenitors in the medial ganglionic eminence (MGE), ..
  71. Valverde F, Garcia C, López Mascaraque L, de Carlos J. Development of the mammillothalamic tract in normal and Pax-6 mutant mice. J Comp Neurol. 2000;419:485-504 pubmed
    ..The results of this study suggest that there is a correlation of these cells with a particular type of Golgi impregnated neuron. ..
  72. Gómez López S, Wiskow O, Favaro R, Nicolis S, Price D, Pollard S, et al. Sox2 and Pax6 maintain the proliferative and developmental potential of gliogenic neural stem cells In vitro. Glia. 2011;59:1588-99 pubmed publisher
    ..Here we investigated the roles of Sox2 and Pax6, transcription factors widely expressed in central nervous system (CNS) progenitors, in mouse NS cells...
  73. Dessaud E, Ribes V, Balaskas N, Yang L, Pierani A, Kicheva A, et al. Dynamic assignment and maintenance of positional identity in the ventral neural tube by the morphogen sonic hedgehog. PLoS Biol. 2010;8:e1000382 pubmed publisher
    ..This suggests an alternative to conventional models of morphogen action that rely solely on the level of signalling. ..
  74. Carney R, Cocas L, Hirata T, Mansfield K, Corbin J. Differential regulation of telencephalic pallial-subpallial boundary patterning by Pax6 and Gsh2. Cereb Cortex. 2009;19:745-59 pubmed publisher
    In the embryonic telencephalon, the pallial-subpallial boundary (PSB) separates the dorsal Pax6+ pallium from the ventral Gsh2+ subpallium...
  75. Song N, Schwab K, Patterson L, Yamaguchi T, Lin X, Potter S, et al. pygopus 2 has a crucial, Wnt pathway-independent function in lens induction. Development. 2007;134:1873-85 pubmed
    ..In each case, Pygo2 is required for normal expression levels of the crucial transcription factor Pax6. Finally, we provide multiple lines of evidence that although Pygo2 can function in the Wnt pathway, its activity ..
  76. Donner A, Ko F, Episkopou V, Maas R. Pax6 is misexpressed in Sox1 null lens fiber cells. Gene Expr Patterns. 2007;7:606-13 pubmed
    ..We have evaluated the expression of Sox1 and Pax6 proteins during critical stages of lens morphogenesis, with particular focus on fiber cell differentiation...
  77. Marillat V, Sabatier C, Failli V, Matsunaga E, Sotelo C, Tessier Lavigne M, et al. The slit receptor Rig-1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons. Neuron. 2004;43:69-79 pubmed
    ..These results demonstrate that Rig-1 controls the ability of both precerebellar neuron cell bodies and their axons to cross the midline. ..