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PAX6 mutations: genotype-phenotype correlations
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
title
PAX6 mutations: genotype-phenotype correlations
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
main subject
phenotype
1 reference
based on heuristic
inferred from title
author
Ioanna Tzoulaki
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
Isabel Hanson
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
author name string
Ian M S White
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
language of work or name
English
0 references
publication date
26 May 2005
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
published in
BMC Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
volume
6
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
page(s)
27
1 reference
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
issue
1
0 references
exact match
https://scigraph.springernature.com/pub.10.1186/1471-2156-6-27
0 references
cites work
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance
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PubMed Central
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Estimate of the mutation rate per nucleotide in humans
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7 April 2017
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins
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7 April 2017
Mutation of the PAX6 gene in patients with autosomal dominant keratitis
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7 April 2017
A new PAX6 mutation in familial aniridia
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7 April 2017
Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding
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7 April 2017
High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
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7 April 2017
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
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7 April 2017
Polymicrogyria and absence of pineal gland due to PAX6 mutation
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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7 April 2017
PAX6 mutations reviewed
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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7 April 2017
PAX6 mutations in aniridia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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7 April 2017
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
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7 April 2017
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
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7 April 2017
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
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7 April 2017
The human PAX6 gene is mutated in two patients with aniridia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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A perfect message: RNA surveillance and nonsense-mediated decay
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7 April 2017
Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations
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PubMed Central
reference URL
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Missense mutations in the DNA-binding region and termination codon in PAX6.
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Pax6; a pleiotropic player in development.
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28 September 2017
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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28 September 2017
PAX6 in sensory development
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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28 September 2017
Killing the messenger: new insights into nonsense-mediated mRNA decay
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 September 2017
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
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28 September 2017
Isolation of CpG islands from large genomic clones
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 September 2017
RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 September 2017
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 September 2017
The Human PAX6 Mutation Database
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 September 2017
Functional analysis of paired box missense mutations in the PAX6 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
30 May 2018
Pax6 induces ectopic eyes in a vertebrate.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 November 2018
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 November 2018
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 November 2018
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1156885
retrieved
28 November 2018
Truncated forms of Pax-6 disrupt lens morphology in transgenic mice
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/15918896
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/15918896
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1186/1471-2156-6-27
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4285196
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
Dimensions Publication ID
1034281512
1 reference
stated in
SciGraph
reference URL
https://scigraph.springernature.com/pub.10.1186/1471-2156-6-27
retrieved
9 September 2019
OpenCitations bibliographic resource ID
4285196
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4285196
PMCID
1156885
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4285196
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
PubMed ID
15918896
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4285196
stated in
Europe PubMed Central
PMCID
1156885
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15918896%20AND%20SRC:MED&resulttype=core&format=json
retrieved
12 January 2020
ResearchGate publication ID
7822680
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