PAX6 mutations reviewed

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Human Mutation

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-MPMID 9482572
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Conservation of Pax-6 in a lower chordate, the ascidian Phallusia mammillata.

  1997cited by this paper
• Functional analysis of paired box missense mutations in the PAX6 gene.

  1997cited by this paper
• Ectopic eye development in Drosophila induced by directed dachshund expression.

  1997cited by this paper
• Squid Pax-6 and eye development.

  1997cited by this paper
• A “Master Control” Gene for Fly Eyes Shares Its Power

  1997cited by this paper
• The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

  1997cited by this paper
• Direct regulation of rhodopsin 1 by Pax-6/eyeless in Drosophila: evidence for a conserved function in photoreceptors.

  1997cited by this paper
• Pax-6: where to be conserved is not conservative.

  1997cited by this paper
• PAX-6 in development and evolution.

  1997cited by this paper
• FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

  1996cited by this paper
• The master control gene for morphogenesis and evolution of the eye

  1996cited by this paper
• Identification of a novel PAX6 gene mutation in an aniridia patient.

  1996cited by this paper
• The factor IX gene as a model for analysis of human germline mutations: an update.

  1996cited by this paper
• Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis.

  1996cited by this paper
• Pax proteins and eye development.

  1996cited by this paper
• Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

  1996cited by this paper
• A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia

  1996cited by this paper
• PAX6 missense mutation in isolated foveal hypoplasia

  1996cited by this paper
• Lens development and crystallin gene expression: many roles for Pax‐6

  1996cited by this paper
• Identification of a novel PAX6 gene mutation in an Aniridia patient

  1996cited by this paper
• Three novel aniridia mutations in the human PAX6 gene

  1995cited by this paper
• When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

  1995cited by this paper
• Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila.

  1995cited by this paper
• Nuclear localization signals, DNA binding, and transactivation properties of quail Pax-6 (Pax-QNR) isoforms.

  1995cited by this paper
• Patterning of the Caenorhabditis elegans head region by the Pax-6 family member vab-3

  1995cited by this paper
• Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.

  1995cited by this paper
• 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)

  1995cited by this paper
• Recent human germ-line mutation: inferences from patients with hemophilia B.

  1995cited by this paper
• Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

  1995cited by this paper
• Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations.

  1995cited by this paper
• A new PAX6 mutation in familial aniridia.

  1995cited by this paper
• Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue

  1995cited by this paper
• Pax-6 is essential for lens-specific expression of zeta-crystallin.

  1995cited by this paper
• Pax6: more than meets the eye.

  1995cited by this paper
• The role of Pax-6 in eye and nasal development.

  1995cited by this paper
• Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans.

  1994cited by this paper
• Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes.

  1994cited by this paper
• Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

  1994cited by this paper
• 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

  1994cited by this paper
• Roles of Pax-genes in developing and adult brain as suggested by expression patterns

  1994cited by this paper
• Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

  1994cited by this paper
• Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

  1994cited by this paper
• Characterization of Pax-6 and Hoxa-1 Binding to the Promoter Region of the Neural Cell Adhesion Molecule L1

  1994cited by this paper
• Nonsense mutation in the homeobox region of the aniridia gene

  1994cited by this paper
• Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins.

  1994cited by this paper
• PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

  1994cited by this paper
• Mutations in the PAX6 gene in patients with hereditary aniridia.

  1993cited by this paper
• A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

  1993cited by this paper
• PAX6 mutations in aniridia.

  1993cited by this paper
• Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene.

  1993cited by this paper
• Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse.

  1993cited by this paper
• DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site.

  1993cited by this paper
• The human PAX6 gene is mutated in two patients with aniridia

  1992cited by this paper
• Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene

  1992cited by this paper
• Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

  1992cited by this paper
• Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

  1992cited by this paper
• Cloning and characterization of the murine homolog of the human aniridia gene

  1992cited by this paper
• Sequence and expression pattern of pax-6 are highly conserved between zebrafish and mice.

  1992cited by this paper
• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

  1992cited by this paper
• Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

  1991cited by this paper
• Mouse Small eye results from mutations in a paired-like homeobox-containing gene

  1991cited by this paper
• Pax-6, a murine paired box gene, is expressed in the developing CNS.

  1991cited by this paper
• Pax: a murine multigene family of paired box-containing genes.

  1991cited by this paper
• A mouse model of the aniridia-Wilms tumor deletion syndrome.

  1990cited by this paper
• Ionizing radiation-induced mutagenesis.

  1988cited by this paper
• A probable case of the homozygous condition of the aniridia gene.

  1980cited by this paper
• MUTATION IN BRIEF

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• Identification and Characterization of a Neuroretina-Specific Enhancer Element in the Quail Pax-6 ( Pax-QNR ) Gene

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• Excluding the Genomic Location of Pax2 Regulatory Elements for the Developing Mouse Eye

  2025cites this paper
• miRNA Expression Profile in Primary Limbal Epithelial Cells of Aniridia Patients

  2025cites this paper
• Axenfeld-Rieger Syndrome: From Zebrafish Models to Clinical Outcomes.

  2025cites this paper
• Anterior segment dysgenesis: part II—genetics and pathogenesis

  2024cites this paper
• A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

  2024cites this paper
• Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study

  2023cites this paper
• Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants

  2023cites this paper
• Characterization of neural damage and neuroinflammation in Pax6 small-eye mice.

  2023cites this paper
• Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond.

  2023cites this paper
• Early-Onset Glaucoma in egl1 Mice Homozygous for Pitx2 Mutation

  2022cites this paper
• Aniridia

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• Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

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• Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

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• Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene

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• Multiple roles for Pax2 in the embryonic mouse eye.

  2021cites this paper
• Management of Retinal Detachment Associated with Morning Glory Disc Syndrome

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• The Malformed Eye

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• Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.

  2021cites this paper
• Structural and functional consequences of PAX6 mutations in the brain: implications for aniridia.

  2021cites this paper
• Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations

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• Novel therapeutics in nystagmus: what has the genetics taught us so far?

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• Morphometric analysis of the lens in human aniridia and mouse Small eye.

  2020cites this paper
• Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family

  2020cites this paper
• Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.

  2020cites this paper
• Global and age-related neuroanatomical abnormalities in a Pax6-deficient mouse model of aniridia suggests a role for Pax6 in adult structural neuroplasticity.

  2020cites this paper
• Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.

  2020cites this paper
• Eye for an Eye: A Comparative Account on Compound Eye of Drosophila melanogaster with Vertebrate Eye

  2020cites this paper
• Early and late auditory information processing show opposing deviations in aniridia.

  2019cites this paper
• Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

  2019cites this paper
• Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus.

  2019cites this paper
• Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model

  2019cites this paper
• Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

  2019cites this paper
• Retina Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy

  2019cites this paper
• The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.

  2019cites this paper
• Eye organogenesis: A hierarchical view of ocular development.

  2019cites this paper
• Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy.

  2019cites this paper
• The genetics of congenital aniridia-a guide for the ophthalmologist.

  2018cites this paper
• Meibomian gland dysfunction and keratopathy are associated with dry eye disease in aniridia

  2018cites this paper
• Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

  2018cites this paper
• Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis

  2018cites this paper
• Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

  2018cites this paper
• The genetic architecture of aniridia and Gillespie syndrome

  2018cites this paper
• Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay

  2018cites this paper
• Human aniridia limbal epithelial cells lack expression of keratins K3 and K12

  2018cites this paper
• Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial

  2018cites this paper
• The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction.

  2018cites this paper
• Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

  2017cites this paper
• Explorer Penetrance of eye defects in mice heterozygous for mutation of Gli 3 is enhanced by heterozygous mutation of Pax 6

  2017cites this paper
• Genetics of glaucoma

  2017cites this paper
• Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.

  2017cites this paper
• Histone deacetylase 1 (HDAC1) regulates retinal development through a PAX6-dependent pathway.

  2017cites this paper
• Translational issues for human corneal endothelial tissue engineering

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• Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

  2016cites this paper
• A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

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• Congenital Aniridia and the Ocular Surface.

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• Assessment of PAX6 alleles in 66 families with aniridia

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• Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development

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• Congenital aniridia: etiology, manifestations and management

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• Aniridia: Early Diagnosis: The Key Roles of Neonatologists, Paediatricians and Paediatric Ophthalmologists

  2015cites this paper
• Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.

  2015cites this paper
• A Clinical and Genetic Review of Aniridia

  2015cites this paper
• Оценка результатов лечения детей с врожденной аниридией с применением иридохрусталикового комплекса «МИОЛ-Радужка»

  2015cites this paper
• Introduction – What Is Aniridia: Epidemiology, Clinical Features and Genetic Implications

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• Glaucoma Genes and Mechanisms.

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• Toxicogenomics in vitro as an alternative tool for safety evaluation of petroleum substances and PAHs with regard to prenatal developmental toxicity.

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• EN2 in Prostate Cancer.

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• Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression

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• Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo

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• Keratopathy, cataract, and dry eye in a survey of aniridia subjects

  2015cites this paper
• A rare PAX6 mutation in a Chinese family with congenital aniridia.

  2015cites this paper
• Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene

  2015cites this paper
• Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with PTPN11 mutation

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• Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.

  2014cites this paper
• Treatment of Congenital Aniridia Associated with Subluxated Infantile Cataract

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• Toward postnatal reversal of ocular congenital malformations.

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• Development and Developmental Disorders of the Forebrain

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• Glaucoma--diabetes of the brain: a radical hypothesis about its nature and pathogenesis.

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• ‘Congenital’ nystagmus may hide various ophthalmic diagnoses

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• A novel duplication in the PAX6 gene in a North Indian family with aniridia

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• A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

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• Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs

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• Using the mouse retina to model the role of SOX2 in neural induction

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• Anophthalmia, Microphthalmia, and Uveal Coloboma

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• Guidelines for genetic study of aniridia.

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• Transcription factor Pax6 is expressed by astroglia after transient brain ischemia in the rat model.

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• Mutant PAX6 downregulates prohormone convertase 2 expression in mouse islets

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• Guidelines for genetic study of aniridia

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• Mutation analysis of paired box 6 gene in inherited aniridia in northern China

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• Role of Pax6 in pancreatic endocrine cell subtype specification.

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• The expression analysis of Sfrs10 and Celf4 during mouse retinal development.

  2013cites this paper
• Pathologic epithelial and anterior corneal nerve morphology in early-stage congenital aniridic keratopathy.

  2012cites this paper
• Characteristics of the cornea and the ocular surface in a population of patients with congenital aniridia

  2012cites this paper
• Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations

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• Hereditary pediatric cataract on the Arabian Peninsula.

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• Expanding Indications of Imaging with Optovue Optical Coherence Tomography in Children

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• Genotype-Phenotype Studies in Infantile Nystagmus with Emphasis on the Novel Frmd7 Gene

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• Characteristics of the cornea and ocular surface in patients with congenital aniridia

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• Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

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• Optical Coherence Tomography Studies Provides New Insights into Diagnosis and Prognosis of Infantile Nystagmus: A Review

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• A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family

  2012cites this paper