(Q28240060)

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

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

6

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language of work or name

English

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publication date

August 1994

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published in

Nature Genetics

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volume

7

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issue

4

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page(s)

463-71

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cites work

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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

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

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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

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

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

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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

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

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The generation of neuronal diversity in the central nervous system

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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

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

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Deletion analysis of GAL4 defines two transcriptional activating segments

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Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

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Pax: gene regulators in the developing nervous system.

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PAX6 mutations in aniridia

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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

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

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

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7 January 2021

The CpG dinucleotide and human genetic disease

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The molecular basis of the undulated/Pax-1 mutation

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

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

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7 January 2021

Corneal Changes in Aniridia

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

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

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7 January 2021

Defects of neuronal migration and the pathogenesis of cortical malformations

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7 January 2021

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

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7 January 2021

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

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7 January 2021