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Retinitis pigmentosa: genes and disease mechanisms.
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
title
Retinitis pigmentosa: genes and disease mechanisms
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
main subject
retinitis pigmentosa
1 reference
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inferred from title
author
Stefano Ferrari
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author name string
Enzo Di Iorio
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2
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Vanessa Barbaro
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3
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Diego Ponzin
series ordinal
4
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Francesco S Sorrentino
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Francesco Parmeggiani
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
publication date
1 June 2011
1 reference
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
published in
Current Genomics
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
volume
12
1 reference
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
issue
4
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
page(s)
238-249
1 reference
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Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
cites work
An update on the genetics of usher syndrome
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=3131731
retrieved
8 July 2018
Current concepts in the treatment of 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=3131731
retrieved
8 July 2018
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
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=3131731
retrieved
8 July 2018
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing
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=3131731
retrieved
8 July 2018
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase
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=3131731
retrieved
8 July 2018
The molecular basis of human retinal and vitreoretinal diseases
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=3131731
retrieved
8 July 2018
Targeted high-throughput DNA sequencing for gene discovery 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=3131731
retrieved
8 July 2018
Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78
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=3131731
retrieved
8 July 2018
Rhodopsin: the functional significance of asn-linked glycosylation and other post-translational modifications
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=3131731
retrieved
8 July 2018
RPGR and RP2: targets for the treatment of 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=3131731
retrieved
8 July 2018
RPE65: role in the visual cycle, human retinal disease, and gene therapy
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=3131731
retrieved
8 July 2018
Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy
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=3131731
retrieved
8 July 2018
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
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=3131731
retrieved
8 July 2018
A novel mutation and phenotypes in phosphodiesterase 6 deficiency
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=3131731
retrieved
8 July 2018
Effect of gene therapy on visual function in Leber's congenital amaurosis
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=3131731
retrieved
8 July 2018
Safety and efficacy of gene transfer for Leber's congenital amaurosis
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=3131731
retrieved
8 July 2018
Programmed cell death in retinal degeneration: targeting apoptosis in photoreceptors as potential therapy for retinal 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=3131731
retrieved
8 July 2018
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant 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=3131731
retrieved
8 July 2018
Perspective on genes and mutations causing 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=3131731
retrieved
8 July 2018
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=3131731
retrieved
8 July 2018
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide 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=3131731
retrieved
8 July 2018
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=3131731
retrieved
8 July 2018
RPE65 is the isomerohydrolase in the retinoid visual cycle
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=3131731
retrieved
8 July 2018
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study
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=3131731
retrieved
8 July 2018
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein
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=3131731
retrieved
8 July 2018
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?
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=3131731
retrieved
8 July 2018
RP1 is required for the correct stacking of outer segment discs
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=3131731
retrieved
8 July 2018
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
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=3131731
retrieved
8 July 2018
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes 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=3131731
retrieved
8 July 2018
Autosomal recessive disorders among Arabs: an overview from Kuwait
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=3131731
retrieved
8 July 2018
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
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=3131731
retrieved
8 July 2018
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
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=3131731
retrieved
27 September 2018
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
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=3131731
retrieved
27 September 2018
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
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=3131731
retrieved
27 September 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=3131731
retrieved
27 September 2018
Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older.
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=3131731
retrieved
27 September 2018
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.
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=3131731
retrieved
27 September 2018
Role for the target enzyme in deactivation of photoreceptor G protein in vivo
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22131869
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22131869
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22131869
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.2174/138920211795860107
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Fatcat ID
release_z2hk6gfsffhchn6zcotl32ua54
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/z2hk6gfsffhchn6zcotl32ua54
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PMCID
3131731
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PubMed ID
22131869
1 reference
stated in
Europe PubMed Central
PMCID
3131731
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22131869%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
ResearchGate publication ID
51844287
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