(Q40313088)

19 September 2017

title

Molecular analysis of a human PAX6 homeobox mutant (English)

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19 September 2017

7

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19 September 2017

Veronica van Heyningen

9

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19 September 2017

Federico Fogolari

8

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author name string

Angela Valentina D'Elia

1

1 reference

19 September 2017

Cinzia Puppin

2

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19 September 2017

Lucia Pellizzari

3

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19 September 2017

Annalisa Pianta

4

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19 September 2017

Elisa Bregant

5

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19 September 2017

Renata Lonigro

6

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19 September 2017

Giuseppe Damante

10

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19 September 2017

publication date

1 June 2006

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European Journal of Human Genetics

19 September 2017

published in

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19 September 2017

volume

14

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19 September 2017

issue

6

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19 September 2017

page(s)

744-751

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

19 September 2017

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Pax genes and organogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Pax: a murine multigene family of paired box-containing genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

The paired box encodes a second DNA-binding domain in the paired homeo domain protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

PAX6 mutations in aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

PAX6 in sensory development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Mutation in the PAX6 gene in twenty patients with aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

PAX6 and congenital eye malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Homeodomain-DNA recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Homeodomain determinants of major groove recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Missense mutations of human homeoboxes: A review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Novel ENU-induced eye mutations in the mouse: models for human eye disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Modulation of PAX6 homeodomain function by the paired domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Proteolytic susceptibility of creatine kinase isozymes and arginine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Redox potential controls the structure and DNA binding activity of the paired domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Expression and Localization of the Homeodomain-Containing Protein HEX in Human Thyroid Tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Expression pattern of the pendrin and sodium/iodide symporter genes in human thyroid carcinoma cell lines and human thyroid tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Probing the partly folded states of proteins by limited proteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Probing the tertiary structure of proteins by limited proteolysis and mass spectrometry: the case of Minibody

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Topology of the thyroid transcription factor 1 homeodomain-DNA complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Analysis of the solution structure of the homeodomain of rat thyroid transcription factor 1 by 1H-NMR spectroscopy and restrained molecular mechanics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Transcriptional regulation of the human PAX6 gene promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

WHAT IF: a molecular modeling and drug design program

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

7 January 2021

Differential DNA sequence recognition is a determinant of specificity in homeotic gene action.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

7 January 2021

A molecular code dictates sequence-specific DNA recognition by homeodomains.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

7 January 2021

Ref-1 controls pax-8 DNA-binding activity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201579

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201579

1 reference

Dimensions Publication ID

19 September 2017

1007357326

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1 reference