(Q33904914)

29 July 2017

0 references

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations (English)

1 reference

29 July 2017

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

1 reference

29 December 2023

0 references

1 reference

29 December 2023

author name string

Noriyuki Azuma

1

1 reference

29 July 2017

Yuki Yamaguchi

2

1 reference

29 July 2017

Hiroshi Handa

3

1 reference

29 July 2017

Keiko Tadokoro

4

1 reference

29 July 2017

Atsuko Asaka

5

1 reference

29 July 2017

Eriko Kawase

6

1 reference

29 July 2017

Masao Yamada

7

1 reference

29 July 2017

language of work or name

English

0 references

publication date

29 April 2003

1 reference

full work available at URL

29 July 2017

http://www.cell.com/article/S000292970760456X/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12721955

https://europepmc.org/articles/PMC1180317

29 December 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12721955

https://europepmc.org/articles/PMC1180317?pdf=render

29 December 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12721955

https://api.elsevier.com/content/article/PII:S000292970760456X?httpAccept=text/xml

29 December 2023

1 reference

https://api.elsevier.com/content/article/PII:S000292970760456X?httpAccept=text/plain

29 December 2023

1 reference

American Journal of Human Genetics

29 December 2023

published in

1 reference

29 July 2017

volume

72

1 reference

29 July 2017

issue

6

1 reference

29 July 2017

page(s)

1565-1570

1 reference

PAX6 in sensory development

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

PAX6 expression in the developing human eye

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

The master control gene for morphogenesis and evolution of the eye.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

PAX6 missense mutation in isolated foveal hypoplasia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

A mouse model of the aniridia-Wilms tumor deletion syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Pax-6, a murine paired box gene, is expressed in the developing CNS

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

PAX6, paired domain influences sequence recognition by the homeodomain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Midline signalling is required for Pax gene regulation and patterning of the eyes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180317

Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12721955

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/375555

1 reference

29 July 2017

1 reference

29 July 2017

1 reference