Identification and characterization of a novel RPGR isoform in human retina (Q57737736)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Identification and characterization of a novel RPGR isoform in human retina (English)

1 reference

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28 December 2019

1 reference

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28 December 2019

John Neidhardt

1 reference

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28 December 2019

Esther Glaus

1 reference

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28 December 2019

Daniel Barthelmes

1 reference

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28 December 2019

Johannes Fleischhauer

1 reference

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28 December 2019

Wolfgang Berger

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28 December 2019

publication date

1 August 2007

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28 December 2019

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28 December 2019

volume

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28 December 2019

issue

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28 December 2019

page(s)

797-807

1 reference

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Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

28 December 2019

cites work

1 reference

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7 January 2021

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

1 reference

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7 January 2021

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

1 reference

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7 January 2021

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

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7 January 2021

Alternative splicing: new insights from global analyses

1 reference

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7 January 2021

RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons

1 reference

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7 January 2021

Detecting polymorphisms and mutations in candidate genes

1 reference

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7 January 2021

Development of a genotyping microarray for Usher syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Human photoreceptor topography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Pre-mRNA splicing and human disease

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7 January 2021

Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms

1 reference

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7 January 2021

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

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7 January 2021

Cross-sectional study of visual acuity and electroretinogram in two types of dominant drusen

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7 January 2021

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

RBM4 interacts with an intronic element and stimulates tau exon 10 inclusion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Light in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Neurodegenerative tauopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Standard for clinical electroretinography (1994 update)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Identification of a cis-acting element for the regulation of SMN exon 7 splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

The 1.7 Å crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Structural basis for guanine nucleotide exchange on Ran by the regulator of chromosome condensation (RCC1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

SWISS-MODEL: An automated protein homology-modeling server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20521

7 January 2021

Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20521

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17405150%20AND%20SRC:MED&resulttype=core&format=json