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Identification and characterization of a novel RPGR isoform in human retina
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Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
title
Identification and characterization of a novel RPGR isoform in human retina
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
author
Christina Zeitz
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
author name string
John Neidhardt
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1
1 reference
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Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
Esther Glaus
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2
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Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
Daniel Barthelmes
series ordinal
3
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PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
Johannes Fleischhauer
series ordinal
5
1 reference
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Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
Wolfgang Berger
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
publication date
1 August 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
published in
Human Mutation
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Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
volume
28
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
issue
8
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
page(s)
797-807
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
cites work
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Alternative splicing: new insights from global analyses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detecting polymorphisms and mutations in candidate genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Development of a genotyping microarray for Usher syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human photoreceptor topography
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pre-mRNA splicing and human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RBM4 interacts with an intronic element and stimulates tau exon 10 inclusion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Light in retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurodegenerative tauopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Standard for clinical electroretinography (1994 update)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a cis-acting element for the regulation of SMN exon 7 splicing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural basis for guanine nucleotide exchange on Ran by the regulator of chromosome condensation (RCC1)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SWISS-MODEL: An automated protein homology-modeling server
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20521
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20521
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
PubMed publication ID
17405150
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17405150
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json
retrieved
28 December 2019
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