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An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
title
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author
Irfan Saadi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Andrew F Russo
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6
1 reference
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Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author name string
Rafael Toro
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2
1 reference
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Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Adisa Kuburas
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Jeffrey C Murray
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Elena Semina
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
publication date
1 March 2006
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
published in
Birth Defects Research Part A: Clinical and Molecular Teratology
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stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
volume
76
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
page(s)
175-181
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
cites work
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein
1 reference
stated in
PubMed Central
reference URL
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PITX2 gain-of-function in Rieger syndrome eye model.
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14 July 2018
Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family
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PubMed Central
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14 July 2018
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome
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PubMed Central
reference URL
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14 July 2018
Molecular genetics of Axenfeld-Rieger malformations
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PubMed Central
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14 July 2018
Differential regulation of gene expression by PITX2 isoforms
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PubMed Central
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14 July 2018
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil
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14 July 2018
Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: implications for tooth development
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Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome
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PubMed Central
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14 July 2018
Identification of a dominant negative homeodomain mutation in Rieger syndrome
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PubMed Central
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14 July 2018
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
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PubMed Central
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14 July 2018
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14 July 2018
Analysis of three Ptx2 splice variants on transcriptional activity and differential expression pattern in the brain
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Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
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Transcriptional properties of Ptx1 and Ptx2 isoforms
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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
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Mesendoderm and left-right brain, heart and gut development are differentially regulated by pitx2 isoforms
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Dosage requirement of Pitx2 for development of multiple organs
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14 July 2018
The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities
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14 July 2018
Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation
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14 July 2018
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
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Regulation of the calcitonin/calcitonin gene-related peptide gene by cell-specific synergy between helix-loop-helix and octamer-binding transcription factors
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14 July 2018
Identification of an estrogen-responsive element from the 5'-flanking region of the rat prolactin gene
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14 July 2018
A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome
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PubMed Central
reference URL
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30 October 2018
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations
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30 October 2018
A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome
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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=4023635
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30 October 2018
Isolation of mutations that disrupt cooperative DNA binding by the Drosophila bicoid protein.
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30 October 2018
Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.
1 reference
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reference URL
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30 October 2018
Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in vertebrate left-right asymmetry
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30 October 2018
Differential expression and functional analysis of Pitx2 isoforms in regulation of heart looping in the chick
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/16498627
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/16498627
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Sequences outside the homeodomain of bicoid are required for protein-protein interaction
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/16498627
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/16498627
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1002/BDRA.20226
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PMC publication ID
4023635
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PubMed publication ID
16498627
1 reference
stated in
Europe PubMed Central
PMC publication ID
4023635
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16498627%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
ResearchGate publication ID
7278112
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