PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (Q28240060)

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scientific article (publication date: August 1994)

Language	Label	Description	Also known as
English	PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects	scientific article (publication date: August 1994)

Statements

scholarly article

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PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (English)

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congenital disorder

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based on heuristic

inferred from title

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author name string

T Glaser

1

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L Jepeal

2

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J G Edwards

3

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S R Young

4

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J Favor

5

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R L Maas

6

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language of work or name

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publication date

August 1994

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Nature Genetics

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7

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4

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463-71

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splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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The human PAX6 gene is mutated in two patients with aniridia

1 reference

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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1 reference

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Mouse small eye results from mutations in a paired-like homeobox-containing gene

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Transcription activation by the adenovirus E1a protein

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Binding affinities and cooperative interactions with bHLH activators delimit threshold responses to the dorsal gradient morphogen

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Evolution and role of Pax genes

1 reference

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The proline-rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain

1 reference

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Dissection of functional domains of the pituitary-specific transcription factor GHF-1.

1 reference

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Aniridia. A review

1 reference

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Characterization of quail Pax-6 (Pax-QNR) proteins expressed in the neuroretina

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Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters

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Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties

1 reference

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21 January 2018

A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells

1 reference

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The generation of neuronal diversity in the central nervous system

1 reference

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Horizontal compartmentation in the germinal matrices and intermediate zone of the embryonic rat cerebral cortex

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The paired box gene pox neuro: a determinant of poly-innervated sense organs in Drosophila

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Evolution of distinct developmental functions of three Drosophila genes by acquisition of different cis-regulatory regions

1 reference

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Zebrafish pax[b] is involved in the formation of the midbrain-hindbrain boundary

1 reference

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Deletion analysis of GAL4 defines two transcriptional activating segments

1 reference

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Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

1 reference

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Pax: gene regulators in the developing nervous system.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

PAX6 mutations in aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

A probable case of the homozygous condition of the aniridia gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of the undulated/Pax-1 mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Murine Pax-2 protein is a sequence-specific trans-activator with expression in the genital system

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Corneal Changes in Aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects of neuronal migration and the pathogenesis of cortical malformations

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Roles of Pax-genes in developing and adult brain as suggested by expression patterns.

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

Site-directed mutagenesis of virtually any plasmid by eliminating a unique site

1 reference

https://api.crossref.org/works/10.1038%2FNG0894-463

7 January 2021

based on heuristic

inferred from DOI database lookup

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