(Q42649071)

4 November 2017

title

The human retinitis pigmentosa GTPase regulator gene variant database (English)

1 reference

4 November 2017

0 references

1 reference

Xinhua Shu

1

1 reference

4 November 2017

Ewan McDowall

series ordinal

2

1 reference

4 November 2017

Alastair F Brown

series ordinal

3

1 reference

4 November 2017

Alan F Wright

series ordinal

4

1 reference

4 November 2017

publication date

1 May 2008

1 reference

4 November 2017

1 reference

4 November 2017

volume

29

1 reference

4 November 2017

issue

5

1 reference

4 November 2017

page(s)

605-608

1 reference

X-linked recessive atrophic macular degeneration from RPGR mutation

4 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Identification of a novel protein interacting with RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Positional cloning of the gene for X-linked retinitis pigmentosa 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR mutation analysis and disease: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Retinitis pigmentosa: defined from a molecular point of view

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Focus on Molecules: RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Mutations in the RPGR gene cause X-linked cone dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Identification and characterization of a novel RPGR isoform in human retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

Mutational Screening of theRP2andRPGRGenes in Spanish Families with X-Linked Retinitis Pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

inferred from DOI database lookup

7 January 2021

based on heuristic

Ran in the spindle checkpoint: a new function for a versatile GTPase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20733

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.20733

1 reference

4 November 2017

1 reference