Pax6

Summary

Gene Symbol: Pax6
Description: paired box 6
Alias: AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, paired box protein Pax-6, aniridia type II protein, oculorhombin, paired box homeotic gene-6
Species: human
Products:     Pax6

Top Publications

  1. Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q. Novel mutations of the PAX6 gene identified in Chinese patients with aniridia. Mol Vis. 2006;12:644-8 pubmed
    Mutations in PAX6 are the major cause of aniridia. Only a few PAX6 mutations in Chinese have been reported. This study is to identify novel mutations in PAX6 of Chinese patients with aniridia...
  2. Kawano T, Wang C, Hotta Y, Sato M, Iwata Amano E, Hikoya A, et al. Three novel mutations of the PAX6 gene in Japanese aniridia patients. J Hum Genet. 2007;52:571-4 pubmed
    Mutations in the PAX6 gene of Japanese aniridia patients were analyzed...
  3. Cong R, Song S, Liu Y. [Study of genetic mutation locus in a family with congenital aniridia]. Zhonghua Yan Ke Za Zhi. 2006;42:1113-7 pubmed
    ..relationship between bands and family members to determine the association between the phenotype of aniridia and PAX6 gene...
  4. D Elia A, Pellizzari L, Fabbro D, Pianta A, Divizia M, Rinaldi R, et al. A deletion 3' to the PAX6 gene in familial aniridia cases. Mol Vis. 2007;13:1245-50 pubmed
    b>PAX6 mutations cause aniridia as well as other various congenital eye abnormalities. Aniridia can be due to both point mutations and chromosomal deletions/rearrangements...
  5. Song S, Liu Y, Guo S, Zhang L, Zhang X, Wang S, et al. A novel PAX6 gene mutation in a Chinese family with aniridia. Mol Vis. 2005;11:335-7 pubmed
    The PAX6 gene mutation in aniridia has been studied in various ethnic patients, but not well studied in the Chinese population. In the present study, we have investigated the PAX6 gene mutation in a Chinese family with congenital aniridia.
  6. Luo F, Zhou L, Ma X, He Y, Zou L, Jie Y, et al. Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia. Ophthalmic Res. 2012;47:27-31 pubmed publisher
    Mutations in the PAX6 are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in PAX6 in Chinese patients with congenital aniridia...
  7. Tang H, Chao L, Saunders G. Functional analysis of paired box missense mutations in the PAX6 gene. Hum Mol Genet. 1997;6:381-6 pubmed
    Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene...
  8. Wen J, Chen Y, Song S, Ding J, Gao Y, Hu Q, et al. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3). Diabetologia. 2009;52:504-13 pubmed publisher
    Human patients with aniridia caused by heterozygous PAX6 mutations display abnormal glucose metabolism, but the underlying molecular mechanism is largely unknown...
  9. Hussain M, Habener J. Glucagon gene transcription activation mediated by synergistic interactions of pax-6 and cdx-2 with the p300 co-activator. J Biol Chem. 1999;274:28950-7 pubmed

More Information

Publications135 found, 100 shown here

  1. Zhang X, Wang P, Li S, Xiao X, Guo X, Zhang Q. Mutation spectrum of PAX6 in Chinese patients with aniridia. Mol Vis. 2011;17:2139-47 pubmed
    To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population.
  2. Glaser T, Jepeal L, Edwards J, Young S, Favor J, Maas R. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994;7:463-71 pubmed
    The human eye malformation aniridia results from haploinsufficiency of PAX6, a paired box DNA-binding protein...
  3. Kang Y, Yuan H, Li Y. [A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008;25:172-5 pubmed
    To identify the mutation of the PAX6 gene in a northeastern Chinese family with aniridia. Three aniridia patients from the family were undergone full ophthalmologic examinations...
  4. Singh S, Chao L, Mishra R, Davies J, Saunders G. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 2001;10:911-8 pubmed
    b>PAX6 is essential for ocular morphogenesis. Mutations in the PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal dominant keratitis and congenital cataracts...
  5. Hanson I, Brown A, van Heyningen V. A new PAX6 mutation in familial aniridia. J Med Genet. 1995;32:488-9 pubmed
    Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia...
  6. Coutinho P, Pavlou S, Bhatia S, Chalmers K, Kleinjan D, van Heyningen V. Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res. 2011;21:1349-59 pubmed publisher
    ..screens with zebrafish and mouse validation, in order to identify cis-elements and genes directly regulated by Pax6. We chose Pax6 as the paradigm because of its crucial roles in organogenesis and human disease...
  7. Xu H, Rould M, Xu W, Epstein J, Maas R, Pabo C. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding. Genes Dev. 1999;13:1263-75 pubmed
    b>Pax6, a transcription factor containing the bipartite paired DNA-binding domain, has critical roles in development of the eye, nose, pancreas, and central nervous system. The 2...
  8. Chien Y, Huang H, Hwu W, Chien Y, Chang T, Lee N. Eye anomalies and neurological manifestations in patients with PAX6 mutations. Mol Vis. 2009;15:2139-45 pubmed
    Mutations in the paired box 6 (PAX6)gene cause a wide variety of eye anomalies, including aniridia...
  9. Dharmaraj N, Reddy A, Kiran V, Mandal A, Panicker S, Chakrabarti S. PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. Ophthalmic Genet. 2003;24:161-5 pubmed
    ..genetic defect causing aniridia in India, eight probands from sporadic cases were screened for all 14 exons of the PAX6 gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)...
  10. Zhou Y, Wu X, Tan F, Shi Y, Glass T, Liu T, et al. PAX6 suppresses growth of human glioblastoma cells. J Neurooncol. 2005;71:223-9 pubmed
    ..Majority of GBMs has loss of heterozygosity of chromosome 10. The PAX6 encodes a transcription factor that involves in development of the brain, where its expression persists...
  11. Bredrup C, Knappskog P, Rødahl E, Boman H. Clinical manifestation of a novel PAX6 mutation Arg128Pro. Arch Ophthalmol. 2008;126:428-30 pubmed publisher
  12. Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet. 1996;13:141-2 pubmed
  13. Kogawa M, Hisatake K, Atkins G, Findlay D, Enoki Y, Sato T, et al. The paired-box homeodomain transcription factor Pax6 binds to the upstream region of the TRAP gene promoter and suppresses receptor activator of NF-?B ligand (RANKL)-induced osteoclast differentiation. J Biol Chem. 2013;288:31299-312 pubmed publisher
    ..Here, we show the paired-box homeodomain transcription factor Pax6 acts as a negative regulator of RANKL-mediated osteoclast differentiation...
  14. Remenyi A, Lins K, Nissen L, Reinbold R, Scholer H, Wilmanns M. Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers. Genes Dev. 2003;17:2048-59 pubmed
    ..Interestingly, these surfaces frequently have redundant functions and are instrumental in recruiting various interacting protein partners. ..
  15. Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowińska A, Krawczynski M. PAX6 3' deletion in a family with aniridia. Ophthalmic Genet. 2012;33:44-8 pubmed publisher
    ..In the majority of cases the disease is caused by mutation in the PAX6 gene...
  16. Shaham O, Menuchin Y, Farhy C, Ashery Padan R. Pax6: a multi-level regulator of ocular development. Prog Retin Eye Res. 2012;31:351-76 pubmed publisher
    ..The transcription factor Pax6 has been shown to play a key role in each of these processes...
  17. Shyr C, Tsai M, Yeh S, Kang H, Chang Y, Wong P, et al. Tumor suppressor PAX6 functions as androgen receptor co-repressor to inhibit prostate cancer growth. Prostate. 2010;70:190-9 pubmed publisher
    b>PAX6, a transcription factor, has currently been suggested to function as a tumor suppressor in glioblastoma and to act as an early differentiation marker for neuroendocrine cells...
  18. Atchaneeyasakul L, Trinavarat A, Dulayajinda D, Kumpornsin K, Thongnoppakhun W, Yenchitsomanus P, et al. Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. Ophthalmic Genet. 2006;27:21-7 pubmed
    To describe the ophthalmic findings and mutation analyses of the PAX6 gene in Thai aniridia patients. Ten patients from six unrelated families underwent a comprehensive ophthalmic examination...
  19. Osumi N, Shinohara H, Numayama Tsuruta K, Maekawa M. Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator. Stem Cells. 2008;26:1663-72 pubmed publisher
    b>Pax6 is a highly conserved transcription factor among vertebrates and is important in various developmental processes in the central nervous system (CNS), including patterning of the neural tube, migration of neurons, and formation of ..
  20. Chang J, Hu Y, Siegel E, Stanley L, Zhou Y. PAX6 increases glioma cell susceptibility to detachment and oxidative stress. J Neurooncol. 2007;84:9-19 pubmed
    ..Our previous studies revealed that low PAX6 expression is a favorable molecular trait for survival acquired by GBM cells because PAX6 could suppress cell ..
  21. Hingorani M, Williamson K, Moore A, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 2009;50:2581-90 pubmed publisher
    Heterozygous mutations of the PAX6 gene cause a variety of ocular malformations, the best known being aniridia (absence of the iris)...
  22. Hsieh Y, Yang X. Dynamic Pax6 expression during the neurogenic cell cycle influences proliferation and cell fate choices of retinal progenitors. Neural Dev. 2009;4:32 pubmed publisher
    The paired homeobox protein Pax6 is essential for proliferation and pluripotency of retinal progenitors...
  23. Cai F, Zhu J, Chen W, Ke T, Wang F, Tu X, et al. A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract. Mol Vis. 2010;16:1141-5 pubmed
    ..To identify the disease-causing gene in a four-generation Chinese family affected with autosomal dominant aniridia and cataract...
  24. Ng T, Lam C, Lam D, Chiang S, Tam P, Wang D, et al. AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. Mol Vis. 2009;15:2239-48 pubmed
    The PAX6 gene, located at the reported myopia locus MYP7 on chromosome 11p13, was postulated to be associated with myopia development...
  25. Liang C, Hsi E, Chen K, Pan Y, Wang Y, Juo S. A functional polymorphism at 3'UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese. Invest Ophthalmol Vis Sci. 2011;52:3500-5 pubmed publisher
    The paired box 6 (PAX6) is involved in eye development and associated with several ocular diseases. Conflicting results have been reported regarding the association between PAX6 polymorphism and myopia...
  26. Griffin C, Kleinjan D, Doe B, van Heyningen V. New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region. Mech Dev. 2002;112:89-100 pubmed
    b>Pax6 is a key transcriptional regulator in eye, olfactory system, forebrain, pituitary cerebellum, spinal cord and pancreas development...
  27. Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K. Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene. Dev Biol. 2003;257:1-13 pubmed
    The Pax6 gene plays crucial roles in eye development and encodes a transcription factor containing both a paired domain and a homeodomain...
  28. Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D. A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia. Mol Vis. 2008;14:142-5 pubmed
    To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia.
  29. Zhang J, Lu J, Suter D, Krause K, Fini M, Chen B, et al. Isoform- and dose-sensitive feedback interactions between paired box 6 gene and delta-catenin in cell differentiation and death. Exp Cell Res. 2010;316:1070-81 pubmed publisher
    b>Pax6, a mammalian homolog of the Drosophila paired box gene family member expressed in stem and progenitor cells, resides at the top of the genetic hierarchy in controlling cell fates and morphogenesis...
  30. Zhang X, Huang C, Chen J, Pankratz M, Xi J, Li J, et al. Pax6 is a human neuroectoderm cell fate determinant. Cell Stem Cell. 2010;7:90-100 pubmed publisher
    The transcriptional regulation of neuroectoderm (NE) specification is unknown. Here we show that Pax6 is uniformly expressed in early NE cells of human fetuses and those differentiated from human embryonic stem cells (hESCs)...
  31. Moelans C, Verschuur Maes A, van Diest P. Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer. J Pathol. 2011;225:222-31 pubmed publisher
    ..Aberrant methylation in at least 50% of both the DCIS and adjacent IDC lesions was observed for PAX6, BRCA2, PAX5, WT1, CDH13 and MSH6. Methylation of MSH6, however, was also frequent in normal breast tissue...
  32. Glaser T, Walton D, Maas R. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992;2:232-9 pubmed
    ..To test the role of PAX6 in aniridia, we isolated human cDNA clones and determined the intron-exon structure of this gene...
  33. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet. 1999;65:656-63 pubmed
    The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia...
  34. Vincent M, Pujo A, Olivier D, Calvas P. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. Eur J Hum Genet. 2003;11:163-9 pubmed
    b>PAX6, a paired box transcriptional factor, is considered as the master control gene for morphogenesis of the eye...
  35. Elvenes J, Sjøttem E, Holm T, Bjørkøy G, Johansen T. Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations. Cell Mol Life Sci. 2010;67:4079-94 pubmed publisher
    The transcription factor Pax6 is crucial for the embryogenesis of multiple organs, including the eyes, parts of the brain and the pancreas. Mutations in one allele of PAX6 lead to eye diseases including Peter's anomaly and aniridia...
  36. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat. 1998;11:93-108 pubmed
    Mutations in PAX6 are responsible for human aniridia and have also been found in patients with Peter's anomaly, with congenital cataracts, with autosomal dominant keratitis, and with isolated foveal hypoplasia...
  37. Azuma N, Hotta Y, Tanaka H, Yamada M. Missense mutations in the PAX6 gene in aniridia. Invest Ophthalmol Vis Sci. 1998;39:2524-8 pubmed
    Aniridia is caused by a mutation of the PAX6 gene...
  38. Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, et al. PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. Diabetes. 2002;51:224-30 pubmed
    A paired homeodomain transcription factor, PAX6, is a well-known regulator of eye development, and its heterozygous mutations in humans cause congenital eye anomalies such as aniridia...
  39. Yuan H, Kang Y, Shao Z, Li Y, Yang G, Xu N. Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia. Mol Vis. 2007;13:1555-61 pubmed
    The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the eye's iris...
  40. Vuzman D, Polonsky M, Levy Y. Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker. Biophys J. 2010;99:1202-11 pubmed publisher
    ..the molecular features of the DNA search mechanism were explored for two multidomain transcription factors: human Pax6 and Oct-1...
  41. Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992;1:328-32 pubmed
    ..AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13...
  42. Singh S, Stellrecht C, Tang H, Saunders G. Modulation of PAX6 homeodomain function by the paired domain. J Biol Chem. 2000;275:17306-13 pubmed
    b>PAX6 is required for proper development of the eye, central nervous system, and nose. PAX6 has two DNA binding domains, a glycine-rich region that links the two DNA binding domains, and a transactivation domain...
  43. Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, et al. PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin Genet. 2001;60:151-4 pubmed
    Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation...
  44. Shukla S, Mishra R. Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a). Interdiscip Sci. 2012;4:54-73 pubmed publisher
    The PAX6 contains two DNA-binding domains, paired domain (PD), homeodomain (HD), and a transactivation domain (TD). Only the crystal structure of PD and the solution structure of HD of PAX6 are known...
  45. Okladnova O, Syagailo Y, Mossner R, Riederer P, Lesch K. Regulation of PAX-6 gene transcription: alternate promoter usage in human brain. Brain Res Mol Brain Res. 1998;60:177-92 pubmed
    ..Alternate promoter usage and differential PAX-6 transcription are likely to play a critical role in brain development and neuroplasticity. ..
  46. Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet. 2003;72:1565-70 pubmed
    The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing central nervous system and numerous ocular tissues during development...
  47. Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, et al. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis. 2007;13:511-23 pubmed
    The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development...
  48. Hewitt A, Kearns L, Jamieson R, Williamson K, van Heyningen V, Mackey D. PAX6 mutations may be associated with high myopia. Ophthalmic Genet. 2007;28:179-82 pubmed
    b>PAX6 is a key regulator of eye development and there are many well recognized ophthalmic sequelae of mutations at this locus. The 14 exon PAX6 gene is well conserved across species and phyla...
  49. Cheng F, Song W, Kang Y, Yu S, Yuan H. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Mol Vis. 2011;17:448-55 pubmed
    The paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals...
  50. Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, et al. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. Eye (Lond). 2011;25:1581-9 pubmed publisher
    Aniridia (AN) is a rare congenital panocular disorder caused by the mutations of the paired box homeotic gene 6(PAX6) gene. The PAX6gene is also involved in other anterior segment malformations including Peters anomaly...
  51. Zhao X, Yue W, Zhang L, Ma L, Jia W, Qian Z, et al. Downregulation of PAX6 by shRNA inhibits proliferation and cell cycle progression of human non-small cell lung cancer cell lines. PLoS ONE. 2014;9:e85738 pubmed publisher
    The transcription factor PAX6 is primarily expressed in embryos. PAX6 is also expressed in several tumors and plays an oncogenic role. However, little is known about the role of PAX6 in lung cancer...
  52. Mirzayans F, Pearce W, MacDonald I, Walter M. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. 1995;57:539-48 pubmed
    ..Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK...
  53. Cooper S, Hanson I. A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11. BMC Genet. 2005;6:43 pubmed
    The PAX6 protein is a transcriptional regulator with a key role in ocular and neurological development. Individuals with heterozygous loss-of-function mutations in the PAX6 gene have malformations of the eye and brain...
  54. D Elia A, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, et al. Molecular analysis of a human PAX6 homeobox mutant. Eur J Hum Genet. 2006;14:744-51 pubmed
    b>Pax6 controls eye, pancreas and brain morphogenesis. In humans, heterozygous PAX6 mutations cause aniridia and various other congenital eye abnormalities...
  55. Hellwinkel O, Kedia M, Isbarn H, Budaus L, Friedrich M. Methylation of the TPEF- and PAX6-promoters is increased in early bladder cancer and in normal mucosa adjacent to pTa tumours. BJU Int. 2008;101:753-7 pubmed
    ..methylation status of CpG islands in the promoter region of the cancer-associated genes GSTP1, DAPK, MDR1, TPEF, PAX6, and TSLC1 in primary papillary bladder cancer specimens from 39 patients (pT1 10, pTis one, pTa 20, pT2 five)...
  56. Pinto G, Clara C, Santos M, Almeida J, Burbano R, Rey J, et al. Mutation analysis of gene PAX6 in human gliomas. Genet Mol Res. 2007;6:1019-25 pubmed
    ..Gene PAX6, which encodes a transcription factor that plays an important role in the development of the central nervous system,..
  57. Jiang B, Yap M, Leung K, Ng P, Fung W, Lam W, et al. PAX6 haplotypes are associated with high myopia in Han chinese. PLoS ONE. 2011;6:e19587 pubmed publisher
    The paired box 6 (PAX6) gene is considered as a master gene for eye development...
  58. Hanson I, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, et al. PAX6 mutations in aniridia. Hum Mol Genet. 1993;2:915-20 pubmed
    ..The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of ..
  59. Axton R, Hanson I, Danes S, Sellar G, van Heyningen V, Prosser J. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. J Med Genet. 1997;34:279-86 pubmed
    ..test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene. Mutations were detected in 90% of the cases...
  60. Chao L, Mishra R, Strong L, Saunders G. Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat. 2003;21:138-45 pubmed
    ..One patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) had deletion of 11p and had lost the paternal PAX6 allele...
  61. Li L, Li B, Zhang H, Bai S, Wang Y, Zhao B, et al. Lentiviral vector-mediated PAX6 overexpression promotes growth and inhibits apoptosis of human retinoblastoma cells. Invest Ophthalmol Vis Sci. 2011;52:8393-400 pubmed publisher
    The cancer-associated gene PAX6 is a key regulator in the embryological development of the retina. The authors assessed whether PAX6 was associated with the development of retinoblastoma. Methods...
  62. Aggarwal S, Jinda W, Limwongse C, Atchaneeyasakul L, Phadke S. Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. Mol Vis. 2011;17:1305-9 pubmed
    To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.
  63. Gregory Evans K, Cheong Leen R, George S, Xie J, Moosajee M, Colapinto P, et al. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can J Ophthalmol. 2011;46:337-44 pubmed publisher
    ..as a diagnostic tool in the critical evaluation of phenotypic variability seen in an aniridia family with a novel PAX6 mutation. Genetic and observational family study. Three-generation family segregating autosomal dominant aniridia...
  64. Grønskov K, Rosenberg T, Sand A, Brøndum Nielsen K. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet. 1999;7:274-86 pubmed
    Mutations in the developmental control gene PAX6 have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia...
  65. Kamachi Y, Uchikawa M, Tanouchi A, Sekido R, Kondoh H. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev. 2001;15:1272-86 pubmed
    b>Pax6 is a key transcription factor in eye development, particularly in lens development, but its molecular action has not been clarified...
  66. Chen P, Zang X, Sun D, Wang Y, Wang Y, Zhao X, et al. Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Mol Vis. 2013;19:1169-77 pubmed
    ..This study is to summarize the phenotypes and identify the underlying genetic cause of the paired box 6 (PAX6) gene responsible for aniridia in two three-generation Chinese families in northern China.
  67. Ton C, Hirvonen H, Miwa H, Weil M, Monaghan P, Jordan T, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991;67:1059-74 pubmed
    ..the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN...
  68. Ellison Wright Z, Heyman I, Frampton I, Rubia K, Chitnis X, Ellison Wright I, et al. Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family. Eur J Neurosci. 2004;19:1505-12 pubmed
    ..and deficits in executive and social cognition, due to heterozygous mutation of the neurodevelopmental control gene PAX6, have structural abnormalities of grey matter in anterior cingulate cortex, cerebellum and medial temporal lobe, as ..
  69. Bayrakli F, Guney I, Bayri Y, Ercan Sencicek A, Ceyhan D, Cankaya T, et al. A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. J Clin Neurosci. 2009;16:1610-4 pubmed publisher
    Paired box gene 6 (PAX6) is the causative gene of aniridia. It is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11p13 and contains 14 exons...
  70. Epstein J, Glaser T, Cai J, Jepeal L, Walton D, Maas R. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev. 1994;8:2022-34 pubmed
    Vertebrate Pax proteins share a conserved 128-amino-acid DNA-binding motif, the paired domain. The PAX6 gene, which is mutated in the murine Small eye and human aniridia developmental defects, also encodes a second protein with a 14-amino-..
  71. Xu Z, Saunders G. Transcriptional regulation of the human PAX6 gene promoter. J Biol Chem. 1997;272:3430-6 pubmed
    b>PAX6, a member of the highly conserved paired-type homeobox gene family, is expressed in a spatially and temporally restricted pattern during early embryogenesis, and its mutation is responsible for human aniridia...
  72. Plaza S, Saule S, Dozier C. High conservation of cis-regulatory elements between quail and human for the Pax-6 gene. Dev Genes Evol. 1999;209:165-73 pubmed
    ..Thus the complex regulation of the quail Pax-6 gene is also conserved in humans. ..
  73. Mitchell T, Free S, Williamson K, Stevens J, Churchill A, Hanson I, et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol. 2003;53:658-63 pubmed
    ..Murine models suggest that PAX6 plays a key role in human brain development...
  74. Thompson P, Mitchell T, Free S, Williamson K, Hanson I, van Heyningen V, et al. Cognitive functioning in humans with mutations of the PAX6 gene. Neurology. 2004;62:1216-8 pubmed
    Fourteen patients with PAX6 gene mutations and previously identified MRI abnormalities were administered tests of cognitive functioning. No deficits were found...
  75. Nallathambi J, Neethirajan G, Shashikant S, Vijayalakshmi P, Sundaresan P. PAX6 missense mutations associated in patients with optic nerve malformation. Mol Vis. 2006;12:236-42 pubmed
    b>PAX6 missense mutations are likely to cause a spectrum of ocular, neurological, and systemic developmental defects and have been reported in various ethnic groups...
  76. Bamiou D, Free S, Sisodiya S, Chong W, Musiek F, Williamson K, et al. Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med. 2007;161:463-9 pubmed
    ..and brain magnetic resonance (MR) imaging abnormalities in children with panocular developmental aniridia due to PAX6 mutations. Case-control study. Great Ormond Street Hospital and Institute of Child Health...
  77. Han W, Leung K, Fung W, Mak J, Li Y, Yap M, et al. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. Invest Ophthalmol Vis Sci. 2009;50:47-56 pubmed publisher
    The paired box 6 (PAX6) gene is critical to eye development. Based on prior linkage evidence, this study was conducted to investigate the association of PAX6 polymorphisms with high myopia in a Han Chinese population.
  78. Lin Y, Li J, Yang Y, Yang J, Zhang B, Tang X, et al. [Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:542-5 pubmed publisher
    To identify the mutation in the PAX6 gene in a family with congenital aniridia and cataract.
  79. Bremond Gignac D, Bitoun P, Reis L, Copin H, Murray J, Semina E. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis. 2010;16:1705-11 pubmed
    ..in several transcription factors associated with these phenotypes, the forkhead box E3 (FOXE3), paired box gene 6 (PAX6), paired-like homeodomain transcription factor 2 (PITX2), and paired-like homeodomain transcription factor 3 (PITX3)..
  80. Bai S, Li B, Zhang H, Jonas J, Zhao B, Shen L, et al. Pax6 regulates proliferation and apoptosis of human retinoblastoma cells. Invest Ophthalmol Vis Sci. 2011;52:4560-70 pubmed publisher
    To assess whether the Pax6 gene is involved in the development of retinoblastoma. Three human retinoblastoma cell cultures were transfected with human Pax6 specific double-stranded, small interfering siRNA molecules RH-1 and RH-2...
  81. Callaerts P, Halder G, Gehring W. PAX-6 in development and evolution. Annu Rev Neurosci. 1997;20:483-532 pubmed
    ..We discuss the implications of these findings for our understanding of the development and evolution of eyes and nervous systems. ..
  82. Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 1999;8:165-72 pubmed
    Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye...
  83. Cvekl A, Kashanchi F, Brady J, Piatigorsky J. Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein. Invest Ophthalmol Vis Sci. 1999;40:1343-50 pubmed
  84. Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol. 2000;238:552-8 pubmed
    A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus...
  85. Tzoulaki I, White I, Hanson I. PAX6 mutations: genotype-phenotype correlations. BMC Genet. 2005;6:27 pubmed
    The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development...
  86. Neethirajan G, Nallathambi J, Krishnadas S, Vijayalakshmi P, Shashikanth S, Collinson J, et al. Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. BMC Ophthalmol. 2006;6:28 pubmed
    Haploinsufficiency at the PAX6 locus causes aniridia, a panocular eye condition characterized by iris hypoplasia and a variety of other anterior and posterior eye defects leading to poor vision...
  87. Simpson C, Hysi P, Bhattacharya S, Hammond C, Webster A, Peckham C, et al. The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort. Invest Ophthalmol Vis Sci. 2007;48:4421-5 pubmed
    ..Its development is influenced by multiple genes and environmental factors. PAX6 and SOX2 are genes with fundamental roles in ocular growth and development, and they have been linked with myopia ..
  88. Maekawa M, Iwayama Y, Nakamura K, Sato M, Toyota T, Ohnishi T, et al. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neurosci Lett. 2009;462:267-71 pubmed publisher
    The paired box 6 (PAX6) is a transcription factor expressed early in development, predominantly in the eye, brain and pancreas...
  89. Schmidt Sidor B, Szymanska K, Williamson K, van Heyningen V, Roszkowski T, Wierzba Bobrowicz T, et al. Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. Folia Neuropathol. 2009;47:372-82 pubmed
    ..Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses...
  90. Bhinge A, Poschmann J, Namboori S, Tian X, Jia Hui Loh S, Traczyk A, et al. MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TGF-?/BMP signaling. EMBO J. 2014;33:1271-83 pubmed publisher
    Several transcription factors (TFs) have been implicated in neuroectoderm (NE) development, and recently, the TF PAX6 was shown to be critical for human NE specification...
  91. Davis A, Cowell J. Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet. 1993;2:2093-7 pubmed
    The 14 exons of the PAX6 gene have been analysed exon-by-exon using SSCP in 6 aniridia families. In each family band shifts were observed on the SSCP gels for only one exon and direct PCR-sequencing revealed mutations in each case...
  92. Sale M, Craig J, Charlesworth J, FitzGerald L, Hanson I, Dickinson J, et al. Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Hum Mutat. 2002;20:322 pubmed
    The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated...