(Q30412604)

20 August 2017

0 references

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia (English)

1 reference

20 August 2017

1 reference

Veronica van Heyningen

9

1 reference

PubMed publication ID

21 June 2017

10

Dirk A Kleinjan

1 reference

20 August 2017

Shipra Bhatia

1

1 reference

20 August 2017

Hemant Bengani

2

1 reference

20 August 2017

Margaret Fish

3

1 reference

20 August 2017

Alison Brown

4

1 reference

20 August 2017

Maria Teresa Divizia

5

1 reference

20 August 2017

Riccardo de Marco

6

1 reference

20 August 2017

Guiseppe Damante

7

1 reference

20 August 2017

Robert Grainger

8

1 reference

20 August 2017

language of work or name

English

0 references

publication date

27 November 2013

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

93

1 reference

20 August 2017

6

1 reference

20 August 2017

1126-1134

1 reference

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Simple, fast, tissue-specific bacterial artificial chromosome transgenesis in Xenopus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Discovery and assessment of conserved Pax6 target genes and enhancers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Shadow enhancers foster robustness of Drosophila gastrulation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Phenotypic robustness conferred by apparently redundant transcriptional enhancers

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

A new positive/negative selection scheme for precise BAC recombineering

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Identification of pax6-dependent gene regulatory networks in the mouse lens

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Deletion of ultraconserved elements yields viable mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Long-range downstream enhancers are essential for Pax6 expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Simple and highly efficient BAC recombineering using galK selection

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Highly conserved non-coding sequences are associated with vertebrate development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Ultraconserved Elements in the Human Genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

3' deletions cause aniridia by preventing PAX6 gene expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Zebrafish contains two pax6 genes involved in eye development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

A highly conserved lens transcriptional control element from the Pax-6 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Transposon-mediated BAC transgenesis in zebrafish.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Transgenesis in zebrafish with the tol2 transposon system.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Megabase deletions of gene deserts result in viable mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Regulation of Pax6 expression is conserved between mice and flies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3852925

Genetic dissection of Pax6 dosage requirements in the developing mouse eye

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24290376

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24290376

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.10.028

1 reference

release_ryev2iqbufaibchhvzuono4vtm

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ryev2iqbufaibchhvzuono4vtm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

20 August 2017

PubMed publication ID

24290376

1 reference