(Q40674619)

22 September 2017

title

Missense mutations in the DNA-binding region and termination codon in PAX6. (English)

1 reference

22 September 2017

Lian-Yu Chao

1

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22 September 2017

Rajnikant Mishra

series ordinal

2

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22 September 2017

Louise C Strong

series ordinal

3

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22 September 2017

Grady F Saunders

series ordinal

4

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22 September 2017

publication date

1 February 2003

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22 September 2017

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22 September 2017

volume

21

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22 September 2017

issue

2

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22 September 2017

page(s)

138-145

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Mutation in the PAX6 gene in twenty patients with aniridia

22 September 2017

cites work

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Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11.

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The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology?

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

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

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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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Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

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Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

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

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Pax6: more than meets the eye.

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

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Zebrafish pax[zf-a]: a paired box-containing gene expressed in the neural tube.

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7 January 2021

A new set of primers for mutation analysis of the human PAX6 gene

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Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13

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PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

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Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13.

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A simple salting out procedure for extracting DNA from human nucleated cells

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Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain

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Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

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Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

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Modulation of PAX6 homeodomain function by the paired domain

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7 January 2021

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

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7 January 2021

Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform

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7 January 2021

Functional analysis of paired box missense mutations in the PAX6 gene

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7 January 2021

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

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7 January 2021

PAX6 in sensory development

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7 January 2021

A stop-codon mutation in the BRI gene associated with familial British dementia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10163

7 January 2021

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

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https://api.crossref.org/works/10.1002%2FHUMU.10163

7 January 2021

Identifiers

DOI

10.1002/HUMU.10163

1 reference

22 September 2017

1 reference