3' deletions cause aniridia by preventing PAX6 gene expression (Q24290547)

1

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J S Wilensky

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E R Oliver

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D S Walton

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T Glaser

Proceedings of the National Academy of Sciences of the United States of America

5

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language of work or name

English

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publication date

5 December 2000

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published in

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volume

97

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page(s)

13755-9

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issue

25

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cites work

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PAX6 mutations reviewed

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

21 January 2018

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Good genes in bad neighbourhoods.

21 January 2018

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Regulation of Pax6 expression is conserved between mice and flies.

21 January 2018

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Pax6 is required for differentiation of glucagon-producing α-cells in mouse pancreas

29 November 2018

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A physical map around the WAGR complex on the short arm of chromosome 11

21 January 2018

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https://api.crossref.org/works/10.1073%2FPNAS.240398797

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.240398797

Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization

21 January 2018

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Position effect in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.240398797

Truncated forms of Pax-6 disrupt lens morphology in transgenic mice

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11087823

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.240398797

1 reference

2020524

ADS bibcode

2000PNAS...9713755L

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2020524

1 reference

1 reference

1 reference