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RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms
scientific journal article
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instance of
scholarly article
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
title
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms
(English)
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
main subject
Whirlin
1 reference
stated in
GOA release 2020-03-11
Retinitis pigmentosa GTPase regulator
1 reference
stated in
GOA release 2020-03-11
author name string
Rachel N. Wright
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
Dong-Hyun Hong
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
Brian Perkins
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
language of work or name
English
0 references
publication date
1 March 2012
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
published in
Investigative Ophthalmology Visual Science
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
volume
53
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
page(s)
1519–1529
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
issue
3
1 reference
stated in
PubMed
PubMed ID
22323458
retrieved
31 January 2017
cites work
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton
1 reference
stated in
PubMed Central
reference URL
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17 March 2017
Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors
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PubMed Central
reference URL
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17 March 2017
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
Interactions in the network of Usher syndrome type 1 proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
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
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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17 March 2017
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
17 March 2017
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
Usher syndrome: molecular links of pathogenesis, proteins and pathways
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
Light in retinitis pigmentosa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
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29 September 2017
Usher syndrome: definition and estimate of prevalence from two high-risk populations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
29 September 2017
A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
3 June 2018
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
3 June 2018
Gamma-tubulin in differentiated cell types: localization in the vicinity of basal bodies in retinal photoreceptors and ciliated epithelia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
3 June 2018
Distribution of acetylated alpha-tubulin in retina and in vitro-assembled microtubules.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
3 June 2018
Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
27 November 2018
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
27 November 2018
Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
27 November 2018
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3339914
retrieved
27 November 2018
Rod and cone responses in sex-linked retinitis pigmentosa
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22323458
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Prevalence of retinitis pigmentosa in Maine
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22323458
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22323458
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1167/IOVS.11-8845
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126397
OpenCitations bibliographic resource ID
4126397
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126397
PMCID
3339914
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126397
PubMed ID
22323458
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4126397
ResearchGate publication ID
221821957
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