(Q33999124)

English

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Stephen P. Daiger

8

object named as

Stephen P Daiger

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

Abigail T Fahim

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Sara J Bowne

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Lori S Sullivan

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Kaylie D Webb

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Jessica T Williams

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dianna K Wheaton

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

David G Birch

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

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publication date

12 August 2011

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Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

e23021

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

12 August 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Mutation- and tissue-specific alterations of RPGR transcripts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Corticotropin releasing hormone (CRH) gene variation: comprehensive resequencing for variant and molecular haplotype discovery in monosomic hybrid cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Dominant, gain-of-function mutant produced by truncation of RPGR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Identification of a novel protein interacting with RPGR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Nonsense-mediated mRNA decay in health and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Severe manifestations in carrier females in X linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155520

28 July 2018

A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

Mutations in the RPGR gene cause X-linked cone dystrophy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

Statistical analysis of correlated data using generalized estimating equations: an orientation

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

Nonsense-mediated decay approaches the clinic

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

Identification and characterization of a novel RPGR isoform in human retina

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0023021

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural course of retinitis pigmentosa over a three-year interval

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methodology for using a universal primer to label amplified DNA segments for molecular analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21857984

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0023021

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2011PLoSO...623021F

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

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