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PAX6 mutations reviewed.
Hum Mutat. 1998;11(2):93-108
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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Nat Genet. 1998 Jun;19(2):140-7
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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
Nat Genet. 1998 Jun;19(2):167-70
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The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.
Cell. 1998 Jun 12;93(6):985-96
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Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
J Biol Chem. 1998 Aug 21;273(34):21531-41
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Ten novel mutations found in Aniridia.
Hum Mutat. 1998;12(5):304-13
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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
Am J Hum Genet. 1998 Nov;63(5):1316-28
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A mutation in the RIEG1 gene associated with Peters' anomaly.
J Med Genet. 1999 Feb;36(2):152-5
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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 May 15;13(10):1263-75
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Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein.
Invest Ophthalmol Vis Sci. 1999 Jun;40(7):1343-50
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The forkhead/winged-helix gene, Mf1, is necessary for the normal development of the cornea and formation of the anterior chamber in the mouse eye.
Dev Biol. 1999 Jul 15;211(2):306-22
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Pax 6: mastering eye morphogenesis and eye evolution.
Trends Genet. 1999 Sep;15(9):371-7
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Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.
Nature. 1999 Sep 16;401(6750):276-8
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Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis.
Nature. 1999 Sep 16;401(6750):279-82
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Dosage requirement of Pitx2 for development of multiple organs.
Development. 1999 Oct;126(20):4643-51
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LENS DEVELOPMENT. I. ROLE OF THE LENS IN EYE GROWTH.
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Regulation of mouse lens fiber cell development and differentiation by the Maf gene.
Development. 2000 Jan;127(2):307-17
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Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.
Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9688-93
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J Biol Chem. 2001 Sep 21;276(38):35751-60
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Annu Rev Cell Dev Biol. 2001;17:255-96
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Curr Opin Cell Biol. 2001 Dec;13(6):706-14
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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.
Hum Mol Genet. 2002 Jan 1;11(1):33-42
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Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.
Genetics. 2001 Dec;159(4):1689-700
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TGFbeta2 in corneal morphogenesis during mouse embryonic development.
Dev Biol. 2001 Dec 15;240(2):419-32
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Identification of genes downstream of Pax6 in the mouse lens using cDNA microarrays.
J Biol Chem. 2002 Mar 29;277(13):11539-48
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Foxe3 haploinsufficiency in mice: a model for Peters' anomaly.
Invest Ophthalmol Vis Sci. 2002 May;43(5):1350-7
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Formation of corneal endothelium is essential for anterior segment development - a transgenic mouse model of anterior segment dysgenesis.
Development. 2000 Feb;127(3):533-42
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A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle.
Genes Dev. 2000 Jan 15;14(2):245-54
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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Hum Mol Genet. 2000 Apr 12;9(7):1021-32
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Altered retinoid signaling in the heads of small eye mouse embryos.
Dev Biol. 2000 May 1;221(1):10-22
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Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.
Hum Mol Genet. 2000 Jul 1;9(11):1575-85
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Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation.
Genesis. 2000 Jun;27(2):81-93
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Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60
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Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression.
J Cell Sci. 2000 Sep;113 ( Pt 18):3173-85
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Axenfeld-Rieger syndrome in the age of molecular genetics.
Am J Ophthalmol. 2000 Jul;130(1):107-15
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Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye.
Genes Dev. 2000 Nov 1;14(21):2701-11
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Dosage requirement and allelic expression of PAX6 during lens placode formation.
Development. 2000 Dec;127(24):5439-48
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A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
Am J Hum Genet. 2001 Feb;68(2):364-72
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Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
Hum Mol Genet. 2001 Feb 1;10(3):231-6
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Regulation of c-maf gene expression by Pax6 in cultured cells.
Nucleic Acids Res. 2001 Mar 1;29(5):1228-37
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A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice.
Genomics. 2001 Feb 15;72(1):61-72
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Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.
J Biol Chem. 2001 Feb 9;276(6):4109-18
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Anterior segment dysgenesis and the developmental glaucomas are complex traits.
Hum Mol Genet. 2002 May 15;11(10):1185-93
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Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype.
Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8719-24
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L-Maf, a downstream target of Pax6, is essential for chick lens development.
Mech Dev. 2002 Aug;116(1-2):61-73
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Disruption of anterior segment development by TGF-beta1 overexpression in the eyes of transgenic mice.
Dev Dyn. 2002 Oct;225(2):111-25
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Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities.
Mech Dev. 2002 Oct;118(1-2):3-17
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Identification of FOXC1 as a TGF-beta1 responsive gene and its involvement in negative regulation of cell growth.
Genomics. 2002 Nov;80(5):465-72
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Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure.
BMC Genet. 2001;2:18
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A comparative cDNA microarray analysis reveals a spectrum of genes regulated by Pax6 in mouse lens.
Genes Cells. 2002 Dec;7(12):1267-83
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Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.
Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1763-8
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A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Am J Ophthalmol. 2003 Mar;135(3):368-75
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The roles of Pax6 in the cornea, retina, and olfactory epithelium of the developing mouse embryo.
Dev Biol. 2003 Mar 15;255(2):303-12
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Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy.
Invest Ophthalmol Vis Sci. 2003 May;44(5):1871-8
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Requirement for Pax6 in corneal morphogenesis: a role in adhesion.
J Cell Sci. 2003 Jun 1;116(Pt 11):2157-67
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The mouse anterior chamber angle and trabecular meshwork develop without cell death.
BMC Dev Biol. 2001;1:3
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R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons.
J Neurosci. 2003 Oct 29;23(30):9873-80
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Functional properties of natural human PAX6 and PAX6(5a) mutants.
Invest Ophthalmol Vis Sci. 2004 Feb;45(2):385-92
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Nat Genet. 1992 Aug;1(5):328-32
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Hum Mol Genet. 1993 Dec;2(12):2093-7
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Cell Growth Differ. 1993 Dec;4(12):1041-50
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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Nat Genet. 1994 Feb;6(2):168-73
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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
Nat Genet. 1992 Nov;2(3):232-9
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A complex array of positive and negative elements regulates the chicken alpha A-crystallin gene: involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins.
Mol Cell Biol. 1994 Nov;14(11):7363-76
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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.
Nat Genet. 1994 Aug;7(4):463-71
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A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells.
Nat Genet. 1993 Apr;3(4):299-304
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Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene.
Mol Cell Biol. 1995 Feb;15(2):892-903
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DNA-binding and transactivation properties of Pax-6: three amino acids in the paired domain are responsible for the different sequence recognition of Pax-6 and BSAP (Pax-5).
Mol Cell Biol. 1995 May;15(5):2858-71
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The role of Pax-6 in eye and nasal development.
Development. 1995 May;121(5):1433-42
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Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches.
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Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.
Cell. 1996 Jul 12;86(1):71-82
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Role of Olf-1 and Pax-6 transcription factors in neurodevelopment.
J Neurosci. 1996 Aug 15;16(16):5082-94
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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
Nat Genet. 1996 Dec;14(4):392-9
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The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia.
Invest Ophthalmol Vis Sci. 1997 Jan;38(1):108-20
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TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.
Development. 1997 Jul;124(13):2659-70
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