(Q48964218)

17 February 2018

title

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

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17 February 2018

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1

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17 February 2018

Veronica van Heyningen

6

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17 February 2018

author name string

A Ross

2

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17 February 2018

M Lee

3

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17 February 2018

D Engelkamp

4

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17 February 2018

P Rashbass

5

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17 February 2018

N D Hastie

7

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17 February 2018

language of work or name

English

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publication date

1 July 1996

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17 February 2018

published in

Cell

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17 February 2018

volume

86

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17 February 2018

page(s)

71-82

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17 February 2018

issue

1

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17 February 2018

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

1 reference

7 January 2021

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).

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Role of the Lens in the Morphogenesis of the Iris and Cornea

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Position-independent, high-level expression of the human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Pax6: more than meets the eye.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

YAC transgenics and the study of genetics and human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Trisomy 4p and ocular defects

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Evolution and role of Pax genes

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Partial trisomy 11,46,XX,-3,-20,+der3,+der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Segmental expression of Hoxb-1 is controlled by a highly conserved autoregulatory loop dependent upon exd/pbx.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Pax genes--paired feet in three camps

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21q22.2.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2800%2980078-1

7 January 2021

10.1016/S0092-8674(00)80078-1

Identifiers

DOI

1 reference

17 February 2018

PubMed ID

8689689

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17 February 2018