(Q34610277)

3 August 2017

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title

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

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3 August 2017

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Raf Vervoort

1

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3 August 2017

Alan F Wright

series ordinal

2

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3 August 2017

publication date

1 May 2002

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3 August 2017

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3 August 2017

volume

19

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3 August 2017

issue

5

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3 August 2017

page(s)

486-500

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Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Conserved histidine residues of RCC1 are essential for nucleotide exchange on Ran.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Identification of a novel protein interacting with RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Localization of the X-linked retinitis pigmentosa locus between DXS7 and DXS84 in a family showing tapetal reflex in heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Identification of a 5? splice site mutation in theRPGR gene in a family with X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Solubilization of membrane-bound rod phosphodiesterase by the rod phosphodiesterase recombinant delta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

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.10057

Abnormal axonemes in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

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.10057

The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

The rod cGMP phosphodiesterase delta subunit dissociates the small GTPase Rab13 from membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Is the Duchenne muscular dystrophy gene also an X-linked retinitis pigmentosa locus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Mechanisms of photoreceptor death and survival in mammalian retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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.10057

Update on the molecular genetics of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Two different genes for X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Novel mutations of the RPGR gene in RP3 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Prevalence of retinitis pigmentosa in Maine

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Genetic mapping of loci for X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Retinitis pigmentosa. Genetic percentages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

X-linked retinitis pigmentosa. Profile of clinical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

Sequence variation within the RPGR gene: evidence for a founder complex allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10057

21 January 2018

Identifiers

DOI

10.1002/HUMU.10057

1 reference

release_3zxscwwmo5fwxa55lphbopweva

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3zxscwwmo5fwxa55lphbopweva

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference