Citations for
PAX6 can substitute for LHX2 and override NFIA-induced astrogliogenesis in developing hippocampus in vivo.
Kinare V, Shetty AS, Suresh A, Tole S.
J Biosci 43(1):75-83. 2018
Novel functions of LHX2 and PAX6 in the developing telencephalon revealed upon combined loss of both genes.
Godbole G, Roy A, Shetty AS, Tole S.
Neural Dev 12(1):19. doi: 10.1186/s13064-017-0097-y. 2017
3IFT74, PAX6
Mapping gene regulatory circuitry of Pax6 during neurogenesis.
Thakurela S, Tiwari N, Schick S, Garding A, Ivanek R, Berninger B, Tiwari VK.
Cell Discov 2:15045. doi: 10.1038/celldisc.2015.45. eCollection 2016. 2016
Pax6 associates with H3K4-specific histone methyltransferases Mll1, Mll2, and Set1a and regulates H3K4 methylation at promoters and enhancers.
Sun J, Zhao Y, McGreal R, Cohen-Tayar Y, Rockowitz S, Wilczek C, Ashery-Padan R, Shechter D, Zheng D, Cvekl A.
Epigenetics Chromatin 9(1):37. doi: 10.1186/s13072-016-0087-z. eCollection 2016. 2016
Pdxl and its role in activating Ngn3 and Pax6 to induce differentiation of iPSCs into islet β cells.
Qin Y, Xiao L, Zhan XB, Zhou HX.
Genet Mol Res 14(3):8892-900. doi: 10.4238/2015.August.3.12. 2015
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.
Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N.
Am J Med Genet A 164A(3):634-8. doi: 10.1002/ajmg.a.36325. Epub 2013 Dec 19. 2014
Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells.
Anchan RM, Lachke SA, Gerami-Naini B, Lindsey J, Ng N, Naber C, Nickerson M, Cavallesco R, Rowan S, Eaton JL, Xi Q, Maas RL.
PLoS One 9(12):e115106. doi: 10.1371/journal.pone.0115106. eCollection 2014. 2014
WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.
Ouyang H, Xue Y, Lin Y, Zhang X, Xi L, Patel S, Cai H, Luo J, Zhang M, Zhang M, Yang Y, Li G, Li H, Jiang W, Yeh E, Lin J, Pei M, Zhu J, Cao G, Zhang L, Yu B, Chen S, Fu XD, Liu Y, Zhang K.
Nature 511(7509):358-61. doi: 10.1038/nature13465. Epub 2014 Jul 2. 2014
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia.
Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA.
Am J Hum Genet 93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. 2013
10IRX3, PAX6
Irx3 and Pax6 establish differential competence for Shh-mediated induction of GABAergic and glutamatergic neurons of the thalamus.
Robertshaw E, Matsumoto K, Lumsden A, Kiecker C.
Proc Natl Acad Sci U S A 110(41):E3919-26. doi: 10.1073/pnas.1304311110. Epub 2013 Sep 24. 2013
Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets.
Chen Y, Cao W, Zhou S, Shen L, Wen J.
Exp Biol Med (Maywood) 238(11):1259-64. doi: 10.1177/1535370213502627. Epub 2013 Sep 18. 2013
A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development.
Bharti K, Gasper M, Ou J, Brucato M, Clore-Gronenborn K, Pickel J, Arnheiter H.
PLoS Genet 8(7):e1002757. doi: 10.1371/journal.pgen.1002757. Epub 2012 Jul 5. 2012
Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing.
Liu T, Zhao Y, Tang N, Feng R, Yang X, Lu N, Wen J, Li L.
PLoS One 7(10):e46934. doi: 10.1371/journal.pone.0046934. Epub 2012 Oct 9. 2012
14KAT5, PAX6
Transcriptional activity of paired homeobox Pax6 is enhanced by histone acetyltransferase Tip60 during mouse retina development.
Kim CH, Kim JW, Jang SM, An JH, Song KH, Choi KH.
Biochem Biophys Res Commun 424(3):427-32. doi: 10.1016/j.bbrc.2012.06.126. Epub 2012 Jul 2. 2012
Regulation of the FABP7 gene by PAX6 in malignant glioma cells.
Liu RZ, Monckton EA, Godbout R.
Biochem Biophys Res Commun 422(3):482-7. doi: 10.1016/j.bbrc.2012.05.019. Epub 2012 May 11. 2012
Pax6 is required at the telencephalic pallial-subpallial boundary for the generation of neuronal diversity in the postnatal limbic system.
Cocas LA, Georgala PA, Mangin JM, Clegg JM, Kessaris N, Haydar TF, Gallo V, Price DJ, Corbin JG.
J Neurosci 31(14):5313-24. 2011
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.
Aggarwal S, Jinda W, Limwongse C, Atchaneeyasakul LO, Phadke SR.
Mol Vis. 17:1305-9. 2011
Pax6 regulates proliferation and apoptosis of human retinoblastoma cells.
Bai SW, Li B, Zhang H, Jonas JB, Zhao BW, Shen L, Wang YC.
Invest Ophthalmol Vis Sci. 52(7):4560-70 2011
19DLX2, PAX6
Proneural transcription factors Dlx2 and Pax6 are altered in adult SVZ neural precursor cells following striatal cell loss.
Jones KS, Connor B.
Mol Cell Neurosci 47(1):53-60. doi: 10.1016/j.mcn.2011.03.001. Epub 2011 Mar 17. 2011
The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.
Zhang Y, Yamada Y, Fan M, Bangaru SD, Lin B, Yang J.
J Biol Chem 285(4):2527-36. Epub 2009 Nov 16.PMID: 19917615 2010
Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function.
Gosmain Y, Marthinet E, Cheyssac C, GuÚrardel A, Mamin A, Katz LS, Bouzakri K, Philippe J.
J Biol Chem 285(43):33381-93. Epub 2010 Jun 30. 2010
Sumoylation activates the transcriptional activity of Pax-6, an important transcription factor for eye and brain development.
Yan Q, Gong L, Deng M, Zhang L, Sun S, Liu J, Ma H, Yuan D, Chen PC, Hu X, Liu J, Qin J, Xiao L, Huang XQ, Zhang J, Li DW.
Proc Natl Acad Sci U S A 107(49):21034-9. Epub 2010 Nov 17. 2010
Pax6-dependent Shroom3 expression regulates apical constriction during lens placode invagination.
Plageman TF Jr, Chung MI, Lou M, Smith AN, Hildebrand JD, Wallingford JB, Lang RA.
Development 137(3):405-15. 2010
24NKX2-2, PAX6
Spatially distinct functions of PAX6 and NKX2.2 during gliogenesis in the ventral spinal cord.
Genethliou N, Panayiotou E, Panayi H, Orford M, Mean R, Lapathitis G, Malas S.
Biochem Biophys Res Commun 382(1):69-73. Epub 2009 Mar 1. 2009
25LHX2, PAX6
The LIM homeobox transcription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation.
TÚtreault N, Champagne MP, Bernier G.
Dev Biol 327(2):541-50. Epub 2008 Dec 30.PMID: 19146846 2009
26OTX1, OTX2, PAX6
Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.
Larsen KB, Lutterodt M, Rath MF, M°ller M.
Int J Dev Neurosci 27(5):485-92. Epub 2009 May 3. 2009
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA.
Am J Med Genet A 146(5):558-69. 2008
28ARX, DLX1, DLX2, EMX1, EMX2, GSX2, LHX1, LHX5, LHX2, LHX6, LHX8, NKX2-1, OTX1, OTX2, PAX6
Homeobox genes in vertebrate forebrain development and disease.
Wigle JT, Eisenstat DD.
Clin Genet 73(3):212-26. Epub 2008 Jan 31. Review. 2008
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH.
Hum Genet 123(4):371-8. Epub 2008 Mar 6. Review. 2008
A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia.
Tsai YY, Chiang CC, Lin HJ, Lin JM, Wan L, Tsai FJ.
Eye 22(4):576-81. Epub 2007 Oct 19. 2008
Overexpression of pairedless Pax6 in the retina disrupts corneal development and affects lens cell survival.
Kim J, Lauderdale JD.
Dev Biol 313(1):434-54. Epub 2007 Nov 9.PMID: 18062951 2008
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance.
Manuel M, Pratt T, Liu M, Jeffery G, Price DJ.
BMC Dev Biol 8:59.PMID: 18507827 2008
33AN, PAX6
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D.
Mol Vis 14:142-5.PMID: 18334930 2008
34ETV1, PAX6
Er81 is a downstream target of Pax6 in cortical progenitors.
Tuoc TC, Stoykova A.
BMC Dev Biol 8:23. 2008
35PAX6, TRIM11
Trim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome system.
Tuoc TC, Stoykova A.
Genes Dev 22(14):1972-86. doi: 10.1101/gad.471708. 2008
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS.
Cytogenet Genome Res 122(2):181-7. doi: 10.1159/000172086. Epub 2008 Dec 18. Erratum in: Cytogenet Genome Res. 2009;124(1):112. 2008
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.
Mol Vis 13:511-23. 2007
Three novel mutations of the PAX6 gene in Japanese aniridia patients.
Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S.
J Hum Genet 52(7):571-4. Epub 2007 Jun 14. 2007
Protein phosphatase-1 modulates the function of Pax-6, a transcription factor controlling brain and eye development.
Yan Q, Liu WB, Qin J, Liu J, Chen HG, Huang X, Chen L, Sun S, Deng M, Gong L, Li Y, Zhang L, Liu Y, Feng H, Xiao Y, Liu Y, Li DW.
J Biol Chem 282(19):13954-65. Epub 2007 Mar 20. 2007
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M.
Am J Med Genet A 143A(15):1802-5. No abstract available. 2007
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.
Mol Vis ol Vis. 2007 2007
Molecular and developmental mechanisms of anterior segment dysgenesis.
Sowden JC.
Eye 21(10):1310-8. Review. 2007
WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.
Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW.
Am J Med Genet A 140(11):1214-8. 2006
44AN, PAX6
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q.
Mol Vis 12:644-8. 2006
45PAX6, SOX2, OTX2
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
Hever AM, Williamson KA, van Heyningen V.
Clin Genet 69(6):459-70. 2006
46PAX6, AN
Molecular analysis of a human PAX6 homeobox mutant.
D'Elia AV, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, Tell G, Fogolari F, van Heyningen V, Damante G.
Eur J Hum Genet 14(6):744-51. 2006
Pax6 regulation in retinal cells by CCCTC binding factor.
Li T, Lu Z, Lu L.
Invest Ophthalmol Vis Sci 47(12):5218-26. 2006
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D.
Ophthalmic Genet 27(4):145-9. 2006
PAX6 missense mutations associated in patients with optic nerve malformation.
Nallathambi J, Neethirajan G, Shashikant S, Vijayalakshmi P, Sundaresan P.
Mol Vis 12:236-42. 2006
Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases.
Kanakubo S, Nomura T, Yamamura K, Miyazaki J, Tamai M, Osumi N.
Genes Cells 11(8):919-33. 2006
Stereospecificity and PAX6 function direct Hoxd4 neural enhancer activity along the antero-posterior axis.
Nolte C, Rastegar M, Amores A, Bouchard M, Grote D, Maas R, Kovacs EN, Postlethwait J, Rambaldi I, Rowan S, Yan YL, Zhang F, Featherstone M.
Dev Biol 299(2):582-93. Epub 2006 Aug 30.PMID: 17010333 2006
The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
Azuma N, Tadokoro K, Asaka A, Yamada M, Yamaguchi Y, Handa H, Matsushima S, Watanabe T, Kohsaka S, Kida Y, Shiraishi T, Ogura T, Shimamura K, Nakafuku M.
Hum Mol Genet 14(6):735-45. Epub 2005 Jan 27. 2005
53PAX6, AN
PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I, White IM, Hanson IM.
BMC Genet 6(1):27. 2005
54PAX6, TBR1, TBR2
Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex.
Englund C, Fink A, Lau C, Pham D, Daza RA, Bulfone A, Kowalczyk T, Hevner RF.
J Neurosci 25(1):247-51. 2005
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11.
Cooper ST, Hanson IM.
BMC Genet. 6:43. 2005
56PAX6, MYPS1, MYP10, MYP9, MYP8
A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins.
Hammond CJ, Andrew T, Tat Mak Y, Spector TD.
Am J Hum Genet 75(2):294-304. Epub 2004 Jun 24. 2004
Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family.
Ellison-Wright Z, Heyman I, Frampton I, Rubia K, Chitnis X, Ellison-Wright I, Williams SC, Suckling J, Simmons A, Bullmore E.
Eur J Neurosci 19(6):1505-12. 2004
58PAX3, PAX6
Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.
Ploski JE, Shamsher MK, Radu A.
Mol Cell Biol. 24(11):4824-34. 2004
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M.
Am J Hum Genet 72(6):1565-70. Epub 2003 Apr 29. 2003
Polymicrogyria and absence of pineal gland due to PAX6 mutation.
Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM.
Ann Neurol 53(5):658-63. 2003
61CDH4, PAX6
R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons.
Andrews GL, Mastick GS.
J Neurosci 23(30):9873-80. 2003
The PAX6 gene is activated by the basic helix-loop-helix transcription factor NeuroD/BETA2.
Marsich E, Vetere A, Di Piazza M, Tell G, Paoletti S.
Biochem J 376(Pt 3):707-15. 2003
Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.
Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K.
Dev Biol. 257(1):1-13. 2003
64ELP4, PAX6
PAX6 in sensory development.
Van Heyningen V, Williamson KA.
Hum Mol Genet 11(10):1161-7. 2002
Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.
Zhou YH, Zheng JB, Gu X, Saunders GF, Yung WK.
Genome Res 12(11):1716-22. 2002
The Rho GTPase effector protein, mDia, inhibits the DNA binding ability of the transcription factor Pax6 and changes the pattern of neurite extension in cerebellar granule cells through its binding to Pax6.
Tominaga T, Meng W, Togashi K, Urano H, Alberts AS, Tominaga M.
J Biol Chem. 277(49):47686-91. 2002
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
Singh S, Chao LY, Mishra R, Davies J, Saunders GF.
Hum Mol Genet 10(9):911-8. 2001
Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1.
Zheng JB, Zhou YH, Maity T, Liao WS, Saunders GF.
Nucleic Acids Res 29(19):4070-8. 2001
69PAX6, AN
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V.
Nat Genet 28(3):214-6. 2001
Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.
Mikkola I, Bruun JA, Holm T, Johansen T.
J Biol Chem. 276(6):4109-18. 2001
Modulation of PAX6 homeodomain function by the paired domain.
Singh S, Stellrecht CM, Tang HK, Saunders GF.
J Biol Chem 275(23):17306-13. 2000
3' deletions cause aniridia by preventing PAX6 gene expression.
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T.
Proc Natl Acad Sci U S A 97(25):13755-9. 2000
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Hanson I, et al.
Hum Mol Genet 8 : 165-172. 1999
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Gronskov K, et al.
Eur J Hum Genet 7(3):274-86. 1999
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
Azuma N, et al.
Am J Hum Genet 65(3):656-63 1999
76PAX3, PAX6, RB1
Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein.
Cvekl A, Kashanchi F, Brady JN, Piatigorsky J.
Invest Ophthalmol Vis Sci. 40(7):1343-50. 1999
Glucagon gene transcription activation mediated by synergistic interactions of pax-6 and cdx-2 with the p300 co-activator.
Hussain MA, Habener JF.
J Biol Chem. 274(41):28950-7. 1999
78AN, PAX6
PAX6 mutations reviewed.
Prosser J, van Heyningen V.
Hum Mutat 11(2):93-108. 1998
A promoter-associated polymorphic repeat modulates PAX-6 expression in human brain.
Okladnova O, Syagailo YV, Tranitz M, Stober G, Riederer P, Mossner R, Lesch KP.
Biochem Biophys Res Commun 248 : 402-405. 1998
80AN, PAX6
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
Singh S, et al.
J Biol Chem 273 : 21531-21541. 1998
Pax6 influences the time and site of origin of glial precursors in the ventral neural tube.
Sun T, Pringle NP, Hardy AP, Richardson WD, Smith HK.
Mol Cell Neurosci 12 : 228-239. 1998
82AN, PAX6
Missense mutations in the PAX6 gene aniridia.
Azuma N, et al.
Invest Ophthalmol Vis Sci 39 : 2524-2528. 1998
83PAX6, WT1
A sequence-ready 3-Mb PAC contig covering 16 breakpoints of the Wilms tumor/anirida region of human chromosome 11p13.
Niederfuhr A, Hummerich H, Gawin B, Boyle S, Little PF, Gessler M.
Genomics 53(2):155-63 1998
84AN, PAX6
Functional analysis of paired box missense mutations in the PAX6 gene.
Tang HK, et al.
Hum Mol Genet 6 : 381-386. 1997
85AN, PAX6
The incidence of PAX6 mutation in patients with simple aniridia : an evaluation of mutation detection in 12 cases.
Axton R, et al.
J Med Genet 34 : 279- 286. 1997
86AN, PAX6
Identification of a novel PAX6 gene mutation in an aniridia patient.
Sahly I, et al.
Hum Mutat 7 : 377. 1996
87AN, PAX6
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia.
Drechsler M, et al.
Hum Genet 98 : 297-303. 1996
88AN, PAX6
Influence of PAX6 gene dosage on development : overexpression causes severe eye abnormalities.
Schedl A, et al.
Cell 86 : 71-82. 1996
PAX6 missense mutation in isolated foveal hypoplasia.
Azuma N, et al.
Nat Genet 13 : 141-142. 1996
90AN, PAX6
A new PAX6 mutation in familial aniridia.
Hanson I, et al.
J Med Genet 32 : 488-489. 1995
91AN, PAX6
Three novel aniridia mutations in the human PAX6 gene.
Martha A, et al.
Hum Mutat 6 : 44-49. 1995
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
Mirzayans F, et al.
Am J Hum Genet 57 : 539-548. 1995
93AN, PAX6
Autosomal dominant keratitis: a possible aniridia variant.
Pearce WG, Mielke BW, Hassard DT, Climenhaga HW, Climenhaga DB, Hodges EJ.
Can J Ophthalmol 30(3):131-7. 1995
Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
Mirzayans F, Pearce WG, MacDonald IM, Walter MA.
Am J Hum Genet 57(3):539-48. 1995
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
Glaser T, et al.
Genomics 19 : 145-148. 1994
96PAX6, AN
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Hanson IM, et al.
Nat Genet 6 : 168-173. 1994
97PAX6, AN
Nonsense mutation in the homeobox region of the aniridia gene.
Martha AD, et al.
Hum Mutat 3 : 297-300. 1994
98AN, PAX6
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
Martha A, et al.
Am J Hum Genet 54 : 801-811. 1994
99AN, PAX6
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
Glaser T, et al.
Nat Genet 7 : 463-471. 1994
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene.
Martha AD, et al.
Hum Mol Genet 2 : 1982. 1993
101AN, PAX6
Mutations in the PAX6 gene in patients with hereditary aniridia.
Davis A, et al.
Hum Mol Genet 2 : 2093-2097. 1993
102AN, PAX6
PAX6 mutations in aniridia.
Hanson IM, et al.
Hum Mol Genet 2 : 915-920. 1993
103AN, PAX6
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Glaser T, et al.
Nat Genet 2 : 232-239. 1992
104AN, PAX6
Positional cloning and characterization of a paired box- and homeobox-containing gene from aniridia region.
Ton CCT, et al.
Cell 67 : 1059-1074. 1991