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. (Q34613926)

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English	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.	scientific article

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5 December 2019

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 (English)

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Mus musculus

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J Favor

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H Peters

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T Hermann

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W Schmahl

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B Chatterjee

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A Neuhäuser-Klaus

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R Sandulache

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1 December 2001

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1689-1700

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5 December 2019

Further genetic analysis of two autosomal dominant mouse eye defects, Ccw and Pax6(coop)

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7 July 2018

Pax6 modulates the dorsoventral patterning of the mammalian telencephalon

1 reference

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A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

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Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development

1 reference

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Pax6 is implicated in murine pituitary endocrine function

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Pax6 controls radial glia differentiation in the cerebral cortex

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Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

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7 July 2018

The Human PAX6 Mutation Database

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Pax6-dependent regulation of adhesive patterning, R-cadherin expression and boundary formation in developing forebrain.

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7 July 2018

Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon

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Direct regulation of rhodopsin 1 by Pax-6/eyeless in Drosophila: evidence for a conserved function in photoreceptors

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Functional analysis of paired box missense mutations in the PAX6 gene

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Forebrain patterning defects in Small eye mutant mice.

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Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

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PAX6 missense mutation in isolated foveal hypoplasia

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7 July 2018

Multiple functions for Pax6 in mouse eye and nasal development.

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A Macintosh program for storage and analysis of experimental genetic mapping data

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7 July 2018

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

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7 July 2018

Homeodomain-DNA recognition

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Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

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

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Cooperative dimerization of paired class homeo domains on DNA.

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7 July 2018

The role of Pax-6 in eye and nasal development

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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).

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High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

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The three-dimensional solution structure of the NK-2 homeodomain from Drosophila

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Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice

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A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea

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Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

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The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160 mg ethylnitrosourea per kg body weight treated spermatogonia

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Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities.

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Pax-6, a murine paired box gene, is expressed in the developing CNS

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The human PAX6 gene is mutated in two patients with aniridia

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Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

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26 October 2018

Mutation in the PAX6 gene in twenty patients with aniridia.

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26 October 2018

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

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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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26 October 2018

Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse

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1 reference

https://pubmed.ncbi.nlm.nih.gov/11779807

12 December 2020

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5 December 2019

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