Property Summary

NCBI Gene PubMed Count 265
PubMed Score 1375.54
PubTator Score 805.89

Knowledge Summary

Patent

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TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Coloboma 52 5.591 2.8
Microphthalmia 79 5.581 2.8
Disease Target Count Z-score Confidence
Corneal disease 32 0.0 4.0

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 4.000 1.8e-08
posterior fossa group A ependymoma 2.300 2.9e-08
glioblastoma -1.500 1.1e-02
medulloblastoma, large-cell -2.900 3.5e-03
atypical teratoid/rhabdoid tumor -1.400 2.8e-02
sonic hedgehog group medulloblastoma 2.800 8.3e-05
pilocytic astrocytoma -2.300 1.2e-04
Breast cancer 1.700 5.4e-04
pituitary cancer -2.000 2.9e-06

Protein-protein Interaction (1)

Gene RIF (203)

PMID Text
26535646 we reported the results of the clinical and molecular evaluation of a threegeneration Chinese family with aniridia and identified a rare heterozygous M1K mutation in PAX6.
26440771 We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient
26439359 findings suggest that PAX6+/- is associated with smaller pineal size, lower melatonin secretion and greater parental report of sleep disturbances in children; further studies are needed to explore the potential use of melatonin replacement for improving sleep quality in patients with PAX6+/-
26394807 Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression
26345820 ChIP experiments confirmed that Pdx1 activates the expression of the downstream transcription factors, Ngn3 and Pax6, by combined with the promoter regions of insulin (Insulin-P), Ngn3 (Ngn3-P), and Pax6 (Pax6-P).
26295830 In post-mortem substantia nigra from Parkinson's disease patients, a reduced number of PAX6 expressing cells were found.
26135959 MicroRNA-7 inhibits the malignant phenotypes of nonsmall cell lung cancer in vitro by targeting Pax6
26045558 loss of PAX6 converts LSCs to epidermal stem cells, as demonstrated by a switch in the keratin gene expression profile and by the appearance of congenital dermoid tissue
25804118 SOX4, SOX11, and PAX6 were significant for tumor type.
25746674 A novel deletion mutation in the PAX6 gene resulting in an abnormal PAX6 COOH-terminal extension in the Chinese family with aniridia.
25696017 the case of a Korean family with novel splice site mutation in the PAX6 gene in isolated aniridia inherited in an autosomal dominant manner, is reported.
25687215 Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype.
25678763 11 novel PAX6 mutations causing aniridia complicated with other ocular abnormalities have been identified in Southern Indian patients.
25578969 demonstrate that Sox-Pax partnerships have the potential to substantially alter DNA target specificities and likely enable the pleiotropic and context-specific action of these cell-lineage specifiers
25555363 This is the first report demonstrating abnormal cone-driven electroretinography responses associated with this particular mutation of the PAX6 gene.
25542770 SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia
25433656 PAX6 and PAX8 positivity was seen in of metastatic pancreatic neuroendocrine tumors to the liver
25366758 novel mutation in PAX6 is likely responsible for the pathogenesis of the congenital aniridia and nystagmus in 3 affected family members.
25342853 Heterozygous PAX6 mutations are associated with congenital hypopituitarism.
25323813 microRNA-335 inhibits proliferation, cell-cycle progression, colony formation, and invasion via targeting PAX6 in breast cancer cells.
25313118 This study contributes patient data on the prevalence and significance of ocular pathology in aniridia with PAX6 mutations.
25189681 Report of a novel duplication in the PAX6 gene capable of causing the classic aniridia phenotype.
25051057 Trans-placental BPA exposure down-regulated gene expression of Sox2 and Pax6 potentially underlying the adverse effect on childhood neuronal development. [Meta-analysis]
25030175 findings suggest a central role of the WNT7A-PAX6 axis in corneal epithelial cell fate determination, and point to a new strategy for treating corneal surface diseases
25029272 Dkk3/REIC3 expression is regulated by PAX6 in several human cell lines.
24939714 In conclusion, our data demonstrate that the suppression of PAX6 increases proliferation and decreases apoptosis in human retinoblastoma cells by regulating several cell cycle and apoptosis biomarkers.
24802670 PAX6 activates miR-135b to inhibit TGF-b and BMP signaling thereby differentiating hESC toward a neural phenotype.
24787241 we identified a novel de novo duplication mutation of PAX6 in the aniridia and other ocular abnormalities family. This mutation has occurred de novo on a paternal chromosome by direct duplication.
24737507 this study is the first to report a PAX6 mutation in a Malaysian family. This mutation is the cause of the aniridia spectra observed in this family and of congenital cataract.
24737483 PAX6, negatively regulated by miR335, is able to inhibit MMP2 and MMP9 expression, which is possibly responsible for the suppressive effect of PAX6 on glioma cell invasion.
24637479 Meta-analysis of existing data revealed a suggestive association of PAX6 rs644242 with extreme and high myopia, which awaits validation in further studies.
24623969 transcriptional control of Trpm3/miR-204, is reported.
24562376 PAX6 (5a) transcription factor expression, together with medium supplemented with fibronectin, is able to induce the differentiation of human adipose-tissue-derived stem cell into retinal progenitors.
24505629 frequent PIK3CA amplification and promoter methylation of RASSF1A and PAX6 genes in gastric cancers
24454925 PAX6 mRNA levels are significantly elevated in primary lung cancer tissues compared to their matched adjacent tissues.
24390526 [review] A slightly impaired pituitary function is identified in an aniridia patient with a heterozygous PAX6 mutation.
24357251 the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome.
24349436 The 681 kb large deletion of chromosome 11p13 downstream of PAX6 is the genetic cause of the familial ocular coloboma in this large Chinese family
24290376 Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
24281366 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24185687 Levels of PAX6 were increased, while the expression of miR-7 was reduced with malignancy of colorectal cancer. PAX6 was identified as a target of miR-7, and its expression was negatively regulated by miR-7 in human colorectal cancer cells.
24143217 functional role of Pax6 loss in SQM pathogenesis
24078574 A novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified in a family with congenital aniridia.
23990468 Pax6 binds endogenously to the proximal region of the tartrate acid phosphatase (TRAP) gene promoter and suppresses nuclear factor of activated T cells c1 (NFATc1)-induced TRAP gene expression.
23970099 In conclusion, the present study supports miR-223 and PAX6 as novel therapeutic targets for glioblastoma.
23942204 a novel PAX6 mutation P76R is associated with infantile nystagmus and presenile cataract in a large family.
23931477 We described 3 cases with unusual ophthalmic manifestations of congenital aniridia. Three cases were negative for systemic involvement without any PAX6 mutation.
23734086 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.
23660406 the regulatory mechanism of PAX6 by microRNAs
23566044 This is the first report of this particular constellation of ocular signs occurring in association with a PAX6 mutation. There was no association with anthropometric features, but affected subjects had worse glycaemia than controls
23213273 A significant association of PAX6 with high and extreme myopia has been found in Japanese patients. The A allele of rs644242 is a protective allele.
23211052 Results indicate positive expression of SOX2, SOX3, PAX6, OCT3/4, and NANOG in the CD105+ and CD105(-) cell subpopulations.
23146210 The first complete pituitary function assessment, together with glucose tolerance evaluations, in five related patients with a PAX6 mutation.
23044950 Herein, we report the first case series to describe the foveal characteristics on SD-OCT imaging of 5 affected individuals in a single family affected with autosomal recessive isolated foveal hypoplasia with an absent PAX6 mutation.
22893676 We identified two novel and a known mutation of PAX6 in four probands with microcornea.
22860217 Controlling inhibition of bone morphogenetic protein modulates the number of SOX1 expressing cells, whereas PAX6, another neural precursor marker, remains the same.
22815628 A nonsense mutation in PAX6 exon 9 (c.718C>T) was identified in the Northeastern Chinese patients with sporadic aniridia.
22809227 Our results confirm that the PAX6, Lumican, and MYOC genes were not associated with high myopia in the Han Chinese in Northeastern China.
22621390 We identified a novel PAX6 mutation in a family with severe ocular malformation.
22583899 These data provide the first evidence of direct transactivation of the FABP7 proximal promoter by PAX6 and suggest a synergistic mechanism for PAX6 and other co-factor(s) in regulating FABP7 expression in malignant glioma.
22561546 Pax6 functions at multiple levels to integrate extracellular information and execute cell-intrinsic differentiation programs that culminate in the specification and differentiation of a distinct ocular lineage.
22550392 A novel heterozygous PAX6 deletion c.1251_1353del103 (p.Pro418Serfs*87) affecting exon 14 and the 3'-untranslated-region was identified in the congenital aniridia Chinese family.
22509105 A splice site mutation in the PAX6 gene resulting in exon skipping was found in a German family with autosomal dominant aniridia.
22447870 Down-regulation of PAX6 in RPE increased RPE proliferation, but reduced scleral cell proliferation.
22393275 Fourteen different kinds of mutations in the PAX6 gene were detected in 16 of 18 unrelated Korean families with congenital aniridia.
22393272 A recurrent PAX6 c.307C-->T mutation is associated with the variable phenotypes among Chinese family patients with aniridia and congenital progressive cataract.
22392277 data show structure-function relationship of wild-type PAX6 and its alternatively spliced isoform PAX6(5a); it indicates the mutation induced changes are not only confined to the place of mutation but are dispersed due to conformational changes induced by missense mutations
22361317 This study adds 2 novel PAX6 mutations to those previously reported, providing further evidence for genetic and phenotypic heterogeneity in aniridic ocular malformation.
22171686 This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.
22171157 The identification of two new PAX6 gene mutations in Chinese aniridia patients, is reported.
22146551 Mutational screening and genotyping could not conclusively clarify a role for PAX6 in familial peripheral keratopathy phenotype, suggesting that it is a distinct clinical and genetic disease entity, not a variant of aniridia.
22103961 we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
22025896 A novel missense mutation in PAX6 (amino acid substitution of proline to glutamine at position 118 (p.P118Q) was identified in all affected individuals but not in asymptomatic members and 110 normal controls.
21997878 PARP-1 regulates PAX6 transcription during human embryonic stem cell neural differentiation.
21985185 A small subset of aniridia cases is caused by rearrangements of PAX6 neighboring regions, and the so-called "position effect" is considered to be the underlying pathogenic mechanism.
21948554 overexpression of PAX6 in human retinoblastoma cells was associated with increased cell proliferation parallel to a reduced caspase-3-dependent apoptotic rate and a change in the p53 regulated cell cycle.
21944253 after Pax6 was knocked down,tumor cells were arrested at G0/G1 phase.
21935435 The results suggest that Pax6 represses AR activity by displacing and/or inhibiting recruitment of coactivators to AR target promoters.
21922321 genetic association studies in Finnish population: An SNP (rs685428) upstream of PAX6 is associated with type 2 diabetes mellitus, insulin resistance, and reduced PAX6 and proprotein convertase 1 (PCSK1) expression in islets. [includes meta-analysis]
21904390 Our findings further confirmed that different kind of mutations might cause different ocular phenotype, and clearly clinical phenotype classification might increase the mutation detection rate of the PAX6gene.
21850189 The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups.
21816254 Ocular disease segregated with a novel PAX6 Q178X nonsense mutation with Western blot analysis suggesting that this led to haploinsufficiency of PAX6 protein.
21710692 Promoter hypermethylation of PAX6, BRCA2, PAX5, WT1, CDH13 and MSH6 seems to be a frequent early event in breast cancer
21691140 We examined the exon sequence of the PAX6 gene in a Chinese family and an unrelated individual with aniridia. The predicted outcome of both mutations is premature termination
21655361 3 non-pathogenic mutations have been identified in PAX6 gene analysis in irido-fundal coloboma in the North Indian patient cohort.
21633710 study to identify the causative PAX6 mutation in a family with autosomal dominant aniridia; a novel PAX6 mutation in the donor splice site of intron 12 was identified in all three affected individuals from the family
21617155 Genome-wide identification of novel PAX6 targets, using Hidden Markov Modelling with published targets. Many predictions were empirically validated using zebrafish ChIP, and gene expression changes in knock-downs and in some mouse mutants.
21589860 PAX6 haplotypes are associated with susceptibility to the development of high myopia in Chinese. The PAX6 locus plays a role in high myopia
21524647 PAX6-G36A and PAX6-G51A mutants were found to have higher ability to transactivate whereas PAX6(5a)-G36A and PAX6(5a)-G51A have lower transactivation potential compared to their respective wild type forms.
21421876 In this study, a functional SNP was identified at the 3'UTR that influences the risk for extreme myopia.
21397818 We report a child with aniridia and Peters anomaly associated with a PAX6 gene mutation.
21353197 This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients.
21348901 The present study did not find evidence of PAX6 polymorphisms being associated with supernumerary teeth in the population studied.
21321669 analysis of a 556 kb deletion in the downstream region of the PAX6 gene that causes familial aniridia and other eye anomalies in a Chinese family
21271670 De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
21169528 Silencing the Pax6 gene with short interfering RNA resulted in an inhibited growth and an increased apoptosis of cultured human retinoblastoma cells.
21092858 Pax6 utilizes different DNA-binding domains to regulate survival of dopaminergic olfactory bulb neurons.
20806047 Mutations in several transcription factors associated with aniridia and congenital cataract, FOXE3, (PAX6), PITX2, and PITX3 genes, were examined.
20801516 Observational study of genetic testing. (HuGE Navigator)
20713004 The molecular features of the DNA search mechanism were explored for two multidomain transcription factors: human Pax6 and Oct-1.
20664694 A novel deletion mutation in the PAX6 gene was identified in a Chinese family with aniridia and congenital cataract.
20621053 Findings indicate that Pax6 is a transcriptional determinant of the human neuroectoderm and suggest that Pax6a and Pax6b coordinate with each other in determining the transition from pluripotency to the NE fate in human.
20592023 Pax6 is critical for alpha cell function and differentiation through the transcriptional control of key genes involved in glucagon gene transcription, proglucagon processing, and alpha cell differentiation
20577777 Data show that Pax6 and also other Pax family proteins display a strikingly low nuclear mobility compared to other transcriptional regulators.
20523026 Data demonstrate by in situ hybridization and immunohistochemistry that the two homeobox genes Pax6 and MEIS2 are expressed during early fetal brain development in humans.
20413449 Overexpression of transgenic Pax6 increases cell cycle length of apical progenitor cells and drives the system toward neurogenesis.
20396773 Data show that Pax6 expression in retina during active neurogenesis is stable and higher than in neocortex, and in primary cultures, Pax6 expression is retained and repeats that in native tissues.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20360993 Observational study of gene-disease association. (HuGE Navigator)
20074565 Data report that either Pax6(+5a) or Pax6(-5a) was sufficient to promote, whereas their knockdown reduced the expression of delta-catenin (CTNND2), a neural specific member of the armadillo/beta-catenin superfamily.
20054790 Case report.Disturbances of brain development in two sib fetuses. Molecular analysis in both parents has shown different mutations in PAX6 gene and a compound heterozygosity for two PAX6 mutations in both fetuses.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19917615 in the presence of Pax6(S), calcium channel beta(3) subunit is translocated from the cytoplasm to the nucleus
19907666 These results revealed an association between high myopia and AC and AG dinucleotide repeat lengths in the PAX6 P1 promoter.
19907666 Observational study of gene-disease association. (HuGE Navigator)
19898691 This study is aimed at exploring the role of PAX6 mutations in Taiwanese patients with congenital eye anomalies.
19862335 Two novel PAX6 mutations in families with severe aniridia, were identified.
19806579 Nonsense mutation Arg240Ter of the PAX6 is the genetic basis of the Chinese family with congenital aniridia.
19806578 The nonsense mutation of the PAX6 gene were associated with congenital aniridia and cataract.
19793656 This study supported the notion that assessing copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis of aniridia
19790232 PAX6 may act as a prostate cancer repressor by interacting with androgen receptor (AR) and repressing the transcriptional activity and target gene expression of AR to regulate cell growth and regeneration.
19686589 This study demonstrated that the quantitative changes in Pax6 protein expression during the preneurogenic to neurogenic transition and during the neurogenic cell cycle.
19651775 a model for a neoplastic pathway where expression of PAX6 from development activates the MET receptor
19650334 Temporal and spatial distribution of PAX6 gene expression in the embryonic eye.
19607881 Observational study of gene-disease association. (HuGE Navigator)
19414065 In the human fetal eye, PAX6 was primarily localized to nuclei of the neural retina. Exprssion peaks at fetal days 51-60.
19218613 PAX6 mutations cause panocular malformations that vary considerably in pattern and severity.
19218613 Observational study of gene-disease association. (HuGE Navigator)
19142206 Observational study of gene-disease association. (HuGE Navigator)
19124844 This study demonstrates the association of PAX6 variants with susceptibility to high myopia. The PAX6 locus may contain polymorphisms playing a role in high myopia in southern Han Chinese.
19124844 Observational study of gene-disease association. (HuGE Navigator)
19034419 Function for PAX6 in the regulation of proinsulin processing and glucose metabolism via modulation of PC1/3 production.
18973570 These data support recent reports that EMX2 but not PAX6 is more directly involved in arealization, highlighting that analysis of human development allows better spatio-temporal resolution than studies in rodents.
18776953 This study adds four novel mutations to the worldwide PAX6 mutational spectrum.
18766996 PAX6 haploinsufficiency, the major cause of classic hereditary aniridia worldwide, is also associated with the phenotype in two different families from the Arabian Peninsula.
18754095 Alterations of gastric PAX6 expression in Helicobacter pylori infection, incisural antralisation, and intestinal metaplasia.
18616618 The exclusion of these genes as likely candidates supports the hypothesis that the ocular phenotype associated with peters' anomaly segregating in this family is a distinct, new, autosomal dominant entity in the anterior segment dysgenesis spectrum.
18595732 Pax6 increases neurogenesis from human fetal striatal neural stem cells; these cells retain a specific neuronal fate consistent with their region of origin.
18593849 concomitant expression of Pax6 and Pdx1 is important for glucose-dependent insulinotropic polypeptide expression
18467663 Pax6 is a multifunctional player regulating proliferation and differentiation through the control of expression of different downstream molecules in a highly context-dependent manner [review]
18440259 PAX6 sequence changes in both families segregated with the anterior segment phenotype and were not observed in controls. Both mutations occur in the paired domain of the PAX6 gene.
18421978 Pax6 has multiple functions in the developing central nervous system and in postnatal neurogenesis.
18393239 The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.
18334930 A novel de novo frameshift mutation in PAX6, which presumably occurred in the paternal gamete, was found in a family with autosomal dominant aniridia.
18332330 The anterior and posterior segment anomalies suggested that the nystagmus was secondary to a panocular disorder with PAX6 as a candidate causative gene.
18273794 The tumor suppressor role of PAX6 in human gliomas is not due to mutation in its coding and regulating regions.
18273794 the tumor suppressor role of PAX6, reported in previous studies on gliomas, is not due to mutation in its coding and regulating regions, suggesting the involvement of epigenetic mechanisms in the silencing of PAX6 in these tumors
18243151 These four cases provide evidence for genetic heterogeneity in aniridia. In aniridic patients without a PAX6 mutation, vision seems to be relatively well preserved.
18241071 67 of 71 aniridia cases (94%) undergoing full mutation analysis had a mutation in the PAX6 genomic region.
18070176 methylated PAX6- or TPEF-promoters could represent biomarkers for bladder cancer.
17948041 Observational study of gene-disease association. (HuGE Navigator)
17947347 Strongly expressed in dorsal and ventral proliferative zones, mainly in proliferating radial glia (RG) cells, neuronal and intermediate progenitors, and sporadic deep cortical plate neurons; has a critical role in neurogenic regulation of RG cells.
17908181 Pax6 is strongly expressed in the embryonic and postnatal olfactory systems, and regulates neuronal specification, migration and differentiation.
17901057 Pax-6 and c-Maf interact with G1 to activate basal expression of the glucagon gene
17898260 Observational study of gene-disease association. (HuGE Navigator)
17898260 PAX6 and SOX2 are obvious candidates in RE genetic studies because of their biological roles and prior linkage studies. The present findings strongly suggest refractive error is not directly affected in this population by variants in either gene.
17896318 PAX6 mutation, particularly predicted haploinsufficiency, may be associated with extreme refractive error.
17893655 Two novel mutations in PAX6 are capable of causing the classic aniridia phenotype. PAX6 plays a role in hereditary aniridia.
17679951 A significant fraction of familial aniridia patients appears to be caused by a 3' deletion to PAX6.
17653045 Observational study of gene-disease association. (HuGE Navigator)
17595013 Screening of PAX6 in patients with suspected Gillespie syndrome should be performed with up-to-date methodology.
17568989 PAX6 point mutations and deletions can cause aniridia.
17485622 Finds children with PAX6 mutations may have auditory interhemispheric transfer deficits and difficulty localizing sound and understanding speech in noisy backgrounds even when there is a normal audiogram.
17417613 We identified three mutations associated with aniridia phenotypes (Q179X, C40X, and V48fsX53). The three other mutations reported here cause non-aniridia ocular phenotypes associated in some cases with neurological anomalies.
17415970 Mutation of PAX6 gene can result in the occurrence of congenital aniridia.
17318412 PAX6 over-expression in low PAX6-expressing glioma cells attenuated recovery of growth after detachment-induced stress, and intracellular reactive oxygen species levels increased following cell detachment.
17202185 the proliferation of cortical progenitors is sensitive to altered Pax6 levels
17148041 To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.
17031679 potential effect of the PAX6 mutation on the mtDNA mutation rate
16873704 Observational study of gene-disease association. (HuGE Navigator)
16803629 New deletions and an insertion create frameshifts predicted to introduce premature termination codons into the PAX6 reading frame. The genetic alterations are predicted to lead to loss-of-function mutations segregating in autosomal dominant manner.
16785853 Four novel mutations including c.141+1G>A, c.184-3C>G, c.542C>A (Ser181X), and c.562C>T (Gln188X) and one known mutation c.120C>A (Cys40X) were identified in PAX6 of five unrelated patients with aniridia.
16712695 This review describes how cross regulation for PAX6, SOX2 and perhaps OTX2 has now been uncovered, pointing to the mechanisms that can fine-tune the expression of three such essential components in eye development.
16604056 Observational study of genotype prevalence. (HuGE Navigator)
16604056 Two sequence variations in PAX6 gene. These missense mutations may uniquely alter structure and expression of PAX6 protein, resulting in distinct clinical phenotypes.
16543198 Truncating PAX6 mutations and ocular phenotypes is associated with aniridia
16511221 X-ray analysis of the Pax6 paired domain bound to the Pax6 gene enhancer
16407227 HIPK2 is an upstream protein kinase for Pax6 that may modulate Pax6-mediated transcriptional regulation
16115881 Pax6 regulation of Optimedin in the eye and brain may directly affect multiple developmental processes, including cell migration and axon growth
16098226 PAX6 interacts with HOMER3, DNCL1, and TRIM11. Three C-terminal PAX6 mutations, previously identified in patients with eye malformations, all reduced or abolished the interactions.
15918896 The consistent association of truncating mutations with the aniridia phenotype, and the distribution of truncating mutations in the PAX6 open reading frame, suggests that nonsense-mediated decay acts on PAX6 mutant alleles
15889018 A novel PAX6 gene mutation was identified in a Chinese aniridia family. This mutation may also contribute to congenital cataracts in these aniridia patients.
15757974 central roles in neural retina transdifferentiation
15735909 Transient overexpression of PAX6 via adenovirus suppressed cell growth by increasing the number of cells in G1 and by decreasing the number of cells in S-phase, and later on caused a dramatic level of cell death.
15677484 Pax6(+5a) induces a developmental cascade in the prospective fovea, area centralis or visual streak region that leads to the formation of a retinal architecture bearing densely packed visual cells.
15659382 Epidermal growth factor-induced proliferation requires down-regulation of Pax6 in corneal epithelial cells
15629294 The association of anterior segment anomalies and foveal hypoplasia with one of the slightest alterations of the PAX6 protein described to date confirms the association of variant phenotypes
15389894 These results are consistent with deficient auditory interhemispheric transfer in patients with a PAX6 mutation, which may be attributable to structural and/or functional abnormalities of the anterior commisure and corpus callosum.
15086958 Study supports the hypothesis that a mutation in the PAX6 gene correlates with expression of aniridia.
15079031 Patients with PAX6 gene mutations and agenesis of the anterior commissure performed more poorly on measures of working memory than those without this abnormality, suggesting the anterior commissure may play a role in cognitive processing
15066147 The brain functional differences in humans with PAX6 mutation that are compatible both with anatomical abnormalities in the same subjects.
14872040 The possible role of PAX6 includes neurodevelopmental roles not only in visual and olfactory sensory domains but also in higher-order auditory processing.
12953159 This study confirms that foveal hypoplasia in the so-called isolated form have a similar origin as in aniridia namely PAX6 mutation and that it is a symptom in all cases while the iris anomaly may be variable.
12868034 PAX6 gene mutations are associated with aniridia
12789139 We report for the first time the identification of PAX6 gene mutations in Indian aniridia patients.
12731001 in 24 humans heterozygous for defined PAX6 mutations, widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria were demonstrated
12721955 Mutations of the PAX6 gene were detected in patients with a variety of optic-nerve malformations.
12325030 Independent modifying factors underlie the variability of the different phenotypic features of the PAX6 mutation in aniridia.
12324464 mDia influences Pax6-induced transcriptional activity and axonal pathfinding in a way opposite from ROCK (Rho kinase) and that it may act via Pax6 to modulate early neuronal development
12043047 Observational study of gene-disease association. (HuGE Navigator)
11850181 New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
11069920 HoxB1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1.
11069920 Pbx1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human Pbx1.

AA Sequence

MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRA      1 - 70
IGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGAD     71 - 140
GMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKL    141 - 210
QRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASN    211 - 280
TPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ    281 - 350
TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR    351 - 420
LQ                                                                        421 - 422
//

Text Mined References (267)

PMID Year Title
26535646 2015 A rare PAX6 mutation in a Chinese family with congenital aniridia.
26440771 2016 Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.
26439359 2016 Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency.
26394807 2015 Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
26345820 2015 Pdxl and its role in activating Ngn3 and Pax6 to induce differentiation of iPSCs into islet ? cells.
26295830 2016 PAX6 expression may be protective against dopaminergic cell loss in Parkinson's disease.
26135959 2015 MicroRNA-7 inhibits the malignant phenotypes of non?small cell lung cancer in vitro by targeting Pax6.
26045558 2015 Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease.
25804118 2015 SOX4, SOX11 and PAX6 mRNA expression was identified as a (prognostic) marker for the aggressiveness of neuroendocrine tumors of the lung by using next-generation expression analysis (NanoString).
25746674 2015 A novel PAX6 deletion in a Chinese family with congenital aniridia.
25696017 2015 A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.
25687215 2015 Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
25678763 2015 Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
25578969 2015 DNA-mediated cooperativity facilitates the co-selection of cryptic enhancer sequences by SOX2 and PAX6 transcription factors.
25555363 2015 Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.
25542770 2015 SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
25433656 2015 Comparison of PAX6 and PAX8 as immunohistochemical markers for pancreatic neuroendocrine tumors.
25366758 2014 A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.
25342853 2015 Heterozygous defects in PAX6 gene and congenital hypopituitarism.
25323813 2015 microRNA-335 inhibits proliferation, cell-cycle progression, colony formation, and invasion via targeting PAX6 in breast cancer cells.
25313118 2014 Aniridia: a comparative overview.
25189681 2014 A novel duplication in the PAX6 gene in a North Indian family with aniridia.
25051057 2014 Visualized gene network reveals the novel target transcripts Sox2 and Pax6 of neuronal development in trans-placental exposure to bisphenol A.
25030175 2014 WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.
25029272 2014 Pax6 regulates the expression of Dkk3 in murine and human cell lines, and altered responses to Wnt signaling are shown in FlpIn-3T3 cells stably expressing either the Pax6 or the Pax6(5a) isoform.
24939714 2014 Suppression of PAX6 promotes cell proliferation and inhibits apoptosis in human retinoblastoma cells.
24802670 2014 MiR-135b is a direct PAX6 target and specifies human neuroectoderm by inhibiting TGF-?/BMP signaling.
24787241 2014 A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
24737507 2014 Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.
24737483 2014 PAX6, a novel target of miR-335, inhibits cell proliferation and invasion in glioma cells.
24637479 2014 PAX6 gene associated with high myopia: a meta-analysis.
24623969 2014 Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.
24562376 2014 In vitro differentiation of adipose-tissue-derived mesenchymal stem cells into neural retinal cells through expression of human PAX6 (5a) gene.
24505629 2014 Concomitant PIK3CA amplification and RASSF1A or PAX6 hypermethylation predict worse survival in gastric cancer.
24454925 2014 Downregulation of PAX6 by shRNA inhibits proliferation and cell cycle progression of human non-small cell lung cancer cell lines.
24390526 2014 Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
24357251 2014 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.
24349436 2013 A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.
24290376 2013 Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24185687 2014 PAX6, a novel target of microRNA-7, promotes cellular proliferation and invasion in human colorectal cancer cells.
24143217 2013 Pax6 downregulation mediates abnormal lineage commitment of the ocular surface epithelium in aqueous-deficient dry eye disease.
24078574 2013 [Identification of a novel PAX6 mutation in a family with congenital aniridia].
24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
23990468 2013 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.
23970099 2013 microRNA-223 promotes the growth and invasion of glioblastoma cells by targeting tumor suppressor PAX6.
23942204 2014 Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
23931477 2013 Three cases with unusual ophthalmic phenotypes of congenital aniridia.
23734086 2013 Mutation analysis of paired box 6 gene in inherited aniridia in northern China.
23660406 2013 MiR-365b-3p, down-regulated in retinoblastoma, regulates cell cycle progression and apoptosis of human retinoblastoma cells by targeting PAX6.
23566044 2013 PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
23213273 2012 Association of paired box 6 with high myopia in Japanese.
23211052 2013 Characterization of mesenchymal stem cell subpopulations from human amniotic membrane with dissimilar osteoblastic potential.
23146210 2012 Pituitary function and glucose tolerance in a family with a PAX6 mutation.
23044950 2012 Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia.
22893676 2012 PAX6 mutations identified in 4 of 35 families with microcornea.
22860217 2012 DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPSCs: comparison of PAX6 and SOX1 expression during neural induction.
22815628 2012 Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.
22809227 2012 Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese.
22621390 2012 A novel PAX6 mutation in Chinese patients with severe congenital aniridia.
22583899 2012 Regulation of the FABP7 gene by PAX6 in malignant glioma cells.
22561546 2012 Pax6: a multi-level regulator of ocular development.
22550392 2012 A novel PAX6 deletion in a Chinese family with congenital aniridia.
22509105 2012 A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.
22447870 2012 MicroRNA-328 may influence myopia development by mediating the PAX6 gene.
22393275 2012 Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
22393272 2012 A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.
22392277 2012 Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a).
22361317 2012 Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.
22344219 2012 Meta-analysis identifies common variants associated with body mass index in east Asians.
22171686 2012 Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
22171157 2011 PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia.
22146551 2012 Familial peripheral keratopathy without PAX6 mutation.
22103961 2011 Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
22025896 2011 Molecular genetics of familial nystagmus complicated with cataract and iris anomalies.
21997878 2011 Fibroblast growth factor regulates human neuroectoderm specification through ERK1/2-PARP-1 pathway.
21985185 2012 PAX6 3' deletion in a family with aniridia.
21948554 2011 Lentiviral vector-mediated PAX6 overexpression promotes growth and inhibits apoptosis of human retinoblastoma cells.
21944253 2011 Possible role of Pax-6 in promoting breast cancer cell proliferation and tumorigenesis.
21935435 2011 Pax6 represses androgen receptor-mediated transactivation by inhibiting recruitment of the coactivator SPBP.
21922321 2012 A common variant upstream of the PAX6 gene influences islet function in man.
21904390 2011 Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.
21816254 2011 Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
21710692 2011 Frequent promoter hypermethylation of BRCA2, CDH13, MSH6, PAX5, PAX6 and WT1 in ductal carcinoma in situ and invasive breast cancer.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21691140 2012 Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia.
21655361 2011 PAX6 gene analysis in irido-fundal coloboma.
21633710 2011 Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.
21617155 2011 Discovery and assessment of conserved Pax6 target genes and enhancers.
21589860 2011 PAX6 haplotypes are associated with high myopia in Han chinese.
21524647 2011 Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies.
21421876 2011 A functional polymorphism at 3'UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese.
21397818 2011 A case of aniridia with unilateral Peters anomaly.
21353197 2011 High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
21348901 2011 PAX6 polymorphisms in 20 Chinese children with supernumerary teeth in the maxillary incisor area.
21321669 2011 A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
21271670 2011 De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.
21169528 2011 Pax6 regulates proliferation and apoptosis of human retinoblastoma cells.
21092858 2010 The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin ?A.
20806047 2010 Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20713004 2010 Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker.
20664694 2010 A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
20621053 2010 Pax6 is a human neuroectoderm cell fate determinant.
20592023 2010 Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function.
20577777 2010 Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.
20523026 2010 Spatiotemporal distribution of PAX6 and MEIS2 expression and total cell numbers in the ganglionic eminence in the early developing human forebrain.
20413449 2011 The generation of superficial cortical layers is regulated by levels of the transcription factor Pax6.
20396773 2009 Molecular genetic and immunophenotypical analysis of Pax6 transcription factor and neural differentiation markers in human fetal neocortex and retina in vivo and in vitro.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20360993 2010 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
20074565 2010 Isoform- and dose-sensitive feedback interactions between paired box 6 gene and delta-catenin in cell differentiation and death.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20054790 2009 Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19917615 2010 The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.
19907666 2009 AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia.
19898691 2009 Eye anomalies and neurological manifestations in patients with PAX6 mutations.
19862335 2009 PAX6 aniridia and interhemispheric brain anomalies.
19806579 2009 [R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia].
19806578 2009 [Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
19793656 2009 A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.
19790232 2010 Tumor suppressor PAX6 functions as androgen receptor co-repressor to inhibit prostate cancer growth.
19686589 2009 Dynamic Pax6 expression during the neurogenic cell cycle influences proliferation and cell fate choices of retinal progenitors.
19651775 2009 PAX6 is expressed in pancreatic cancer and actively participates in cancer progression through activation of the MET tyrosine kinase receptor gene.
19650334 Temporal and spatial distribution of PAX6 gene expression in the developing human eye.
19607881 2009 A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient.
19414065 2009 Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.
19218613 2009 Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
19142206 2009 Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
19124844 2009 Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families.
19034419 2009 Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).
18973570 2008 Progressive loss of PAX6, TBR2, NEUROD and TBR1 mRNA gradients correlates with translocation of EMX2 to the cortical plate during human cortical development.
18776953 2008 Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.
18766996 2008 PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
18754095 2009 Alterations of gastric homeoprotein expression in Helicobacter pylori infection, incisural antralisation, and intestinal metaplasia.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18616618 2009 A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
18595732 2008 Pax6 promotes neurogenesis in human neural stem cells.
18593849 2008 Pax6 and Pdx1 are required for production of glucose-dependent insulinotropic polypeptide in proglucagon-expressing L cells.
18467663 2008 Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator.
18440259 2008 Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes.
18421978 2008 [Role of Pax6 in the developing central nervous system].
18393239 2008 [A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia].
18334930 2008 A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
18332330 2008 Clinical manifestation of a novel PAX6 mutation Arg128Pro.
18273794 2007 Mutation analysis of gene PAX6 in human gliomas.
18243151 2008 Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
18241071 2008 Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
18070176 2008 Methylation of the TPEF- and PAX6-promoters is increased in early bladder cancer and in normal mucosa adjacent to pTa tumours.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17982423 2007 Stem cell markers in the human posterior limbus and corneal endothelium of unwounded and wounded corneas.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17948041 2008 A PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia.
17947347 2008 Is Pax6 critical for neurogenesis in the human fetal brain?
17908181 2007 Role of a transcription factor Pax6 in the developing vertebrate olfactory system.
17901057 2007 Pax-6 and c-Maf functionally interact with the alpha-cell-specific DNA element G1 in vivo to promote glucagon gene expression.
17898260 2007 The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.
17896318 2007 PAX6 mutations may be associated with high myopia.
17893655 2007 Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.
17679951 2007 A deletion 3' to the PAX6 gene in familial aniridia cases.
17653045 2007 Candidate gene and locus analysis of myopia.
17595013 2007 A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
17568989 2007 Three novel mutations of the PAX6 gene in Japanese aniridia patients.
17485622 2007 Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.
17417613 2007 Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
17415970 2006 [Study of genetic mutation locus in a family with congenital aniridia].
17318412 2007 PAX6 increases glioma cell susceptibility to detachment and oxidative stress.
17291498 2007 Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone.
17251190 2007 The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter.
17202185 2007 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.
17148041 2006 Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
17031679 2007 De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
16873704 2006 Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
16803629 2006 Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia.
16785853 2006 Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
16712695 2006 Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
16637659 2006 Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays.
16604056 2006 PAX6 missense mutations associated in patients with optic nerve malformation.
16582099 2006 The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16543198 2006 Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients.
16511221 2005 Crystallization and preliminary X-ray analysis of the Pax6 paired domain bound to the Pax6 gene enhancer.
16493447 2006 Molecular analysis of a human PAX6 homeobox mutant.
16407227 2006 Phosphorylation and transactivation of Pax6 by homeodomain-interacting protein kinase 2.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16115881 2005 The Optimedin gene is a downstream target of Pax6.
16098226 2005 A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11.
15918896 2005 PAX6 mutations: genotype-phenotype correlations.
15889018 2005 A novel PAX6 gene mutation in a Chinese family with aniridia.
15757974 2005 Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor.
15735909 2005 PAX6 suppresses growth of human glioblastoma cells.
15677484 2005 The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
15659382 2005 Epidermal growth factor-induced proliferation requires down-regulation of Pax6 in corneal epithelial cells.
15629294 2004 Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15389894 2004 Deficient auditory interhemispheric transfer in patients with PAX6 mutations.
15143176 2004 Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.
15086958 2004 PAX6 gene variations associated with aniridia in south India.
15079031 2004 Cognitive functioning in humans with mutations of the PAX6 gene.
15066147 2004 Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family.
14872040 2004 Defective auditory interhemispheric transfer in a patient with a PAX6 mutation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12953159 2003 [Hereditary foveal hypoplasia - clinical differentiation].
12923055 2003 Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers.
12868034 2003 PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.
12789139 2003 A novel PAX6 gene mutation in an Indian aniridia patient.
12731001 2003 Polymicrogyria and absence of pineal gland due to PAX6 mutation.
12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
12710953 2003 Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.
12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12325030 2002 Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
12324464 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.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
12043047 2002 [PAX-6 gene promoter polymorphism and other factors involved in brain atrophy in alcohol dependent patients].
11850181 2002 New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.
11826019 2002 National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
11756345 2002 PAX6 mutation as a genetic factor common to aniridia and glucose intolerance.
11553050 2001 PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
11358870 2001 Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development.
11350962 2001 Specific Pax-6/microphthalmia transcription factor interactions involve their DNA-binding domains and inhibit transcriptional properties of both proteins.
11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
11069920 2001 Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.
11036080 2001 A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities.
10955655 2000 A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
10747901 2000 Modulation of PAX6 homeodomain function by the paired domain.
10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.
10610023 1999 Expression pattern of PAX3 and PAX6 genes during human embryogenesis.
10506141 1999 Glucagon gene transcription activation mediated by synergistic interactions of pax-6 and cdx-2 with the p300 co-activator.
10441571 1999 Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
10359315 1999 Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein.
10346815 1999 Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding.
10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
10079359 1999 High conservation of cis-regulatory elements between quail and human for the Pax-6 gene.
9931324 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
9882499 1999 Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity.
9856761 1998 Missense mutations in the PAX6 gene in aniridia.
9792406 1998 Ten novel mutations found in Aniridia.
9757029 1998 Regulation of PAX-6 gene transcription: alternate promoter usage in human brain.
9538891 1998 Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.
9482572 1998 PAX6 mutations reviewed.
9281415 1997 Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
9147640 1997 Functional analysis of paired box missense mutations in the PAX6 gene.
9138149 1997 The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
9056723 1997 PAX-6 in development and evolution.
9013587 1997 Transcriptional regulation of the human PAX6 gene promoter.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8640214 1996 PAX6 missense mutation in isolated foveal hypoplasia.
8364574 1993 PAX6 mutations in aniridia.
8162071 1994 Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
8111379 1993 Mutations in the PAX6 gene in patients with hereditary aniridia.
7958875 1994 Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.
7951315 1994 PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
7909985 1994 Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.
7757816 1995 [IMAGE: molecular integration of the analysis of the human genome and its expression].
7698003 1995 Report of the fourth international workshop on human chromosome 11 mapping 1994.
7668281 1995 Mutation of the PAX6 gene in patients with autosomal dominant keratitis.
7666404 1995 A new PAX6 mutation in familial aniridia.
7550230 1995 Three novel aniridia mutations in the human PAX6 gene.
1684738 1991 Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
1345175 1992 Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
1302030 1992 The human PAX6 gene is mutated in two patients with aniridia.