About: Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

scientific article published on 01 September 1997

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1997 (uk) article scientifique publié en 1997 (fr) im September 1997 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 1997 (ast) scientific article published on 01 September 1997 (en)
publication date	wds:Q73790127-F56E833B-6B1A-4623-8CCC-A313DF86B7A8
publication date	1997-09-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q73790127-DC2037EC-A34D-4113-B945-50E9B55BC5BA
language of work or name	English
author name string	wds:Q73790127-04EE6A4B-D1C4-48BC-9EFB-0AC77F2F3FEB wds:Q73790127-052C5FA5-C9AA-4A06-BD5D-BD121BC70882 wds:Q73790127-324DDB78-4CEC-4A9C-BEDD-CC1EA6B521C9 wds:Q73790127-3E49DDF0-506D-4BB2-8EC4-83E6D65841B2 wds:Q73790127-63E31092-7A3D-4D50-B91A-F96B5552559B wds:Q73790127-77534810-6795-4BDE-942D-3C110A82CF42 wds:Q73790127-9DD26572-4A7A-470C-B9B3-141D620F457B wds:Q73790127-BCA376EB-5E55-4BAA-BA59-1FB27E48B198 wds:Q73790127-F021402C-3295-43C5-884D-2B66B38EEC4D
author name string	Chen C Wu W Huang Y Swaroop A Jacobson SG Milam AH Cideciyan AV Buraczynska M Järvaläinen M
rdfs:label	Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (en) Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (nl)
skos:prefLabel	Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (en) Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (nl)
name	Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (en) Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (nl)
author	wds:Q73790127-D27824A2-6567-4923-8CC3-7510112FD661
author	Ricardo Fujita
title	wds:Q73790127-5A4498C8-C941-40DC-8F17-472ED0D3631C
title	Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene (en)
page(s)	wds:Q73790127-34634B2D-898B-42A5-8E72-CF75C6F62CF4
page(s)	1983-1997
instance of	wds:Q73790127-7A18BCBC-554D-496D-9C78-A04D91C2F7E1
instance of	scholarly article
main subject	wds:Q73790127-B237A9E3-AD0C-487E-8214-CD4AF5FD2743
main subject	retinitis pigmentosa
PubMed ID	wds:Q73790127-16BE5612-1FAC-41C0-A2CE-92584F805C45
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9331262
PubMed ID	9331262
published in	wds:Q73790127-5A0BFA34-46A8-49A1-BAC9-6E62E0356680
published in	Investigative Ophthalmology Visual Science
issue	wds:Q73790127-9102A99A-4D37-46A9-9974-BB315E518152
volume	wds:Q73790127-B12A67F7-6307-44D1-A1A9-FFA29EAE4596
issue	10
volume	38
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73790127
is cites work of	Quantification of retinal pigment epithelial phenotypic variation using laser scanning cytometry. Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15 Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa. Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR Long-term follow-up of a family with dominant X-linked retinitis pigmentosa Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data Visual Function in Carriers of X-Linked Retinitis Pigmentosa. Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1) Investigation of SLA4A3 as a candidate gene for human retinal disease
is cites work of	wds:Q38801986-1279BCC0-07BB-459D-9780-99D6E50D7320 wds:Q34497784-DB744116-4D99-45B4-B692-0BD552780F75 wds:Q98158710-53E3F5CE-FD02-4AB1-96EA-2A4B063BF11B wds:Q30936163-47AD1A7B-37F9-49F4-922D-F913371D2BED wds:Q30528634-A5A9E655-0CD5-4567-A309-6C41DB2AD9A3 wds:Q34719323-81099611-2E68-4A10-8006-F330034BDA3F wds:Q98613374-20A76833-DF8B-41E5-B506-1BE907449C17 wds:Q35751018-8E4509B6-ACA2-4096-877C-C5E650261435 wds:Q36925839-0D40E24D-D65F-4421-9D23-D23C9D50EF58 wds:Q34081528-573463FA-BFE7-42C8-810B-A0F1AC9D6861 wds:Q33626390-ECAB200E-58C8-4927-9C1A-5E637176463E wds:Q37317693-1FD9CDF4-C4DD-42BF-8CBA-CBA65CC47C1D wds:Q36037683-5EBDE500-A6C5-4B0E-9790-18AB347413CB wds:Q24676561-9826352D-C7D4-4C38-A6CA-0BFBEAE1EE5E wds:Q35045072-5CF5332B-46E0-4543-BA9B-3115A6694285 wds:Q36294702-4DE83C22-CD27-4215-968F-CFB64816CEF6 wds:Q36074134-B04812CB-6596-4CBB-8F86-A355DBE24940 wds:Q36676811-27C9FE8B-18EA-4D2A-A949-DA51E3318014 wds:Q34062166-D4FFC7D7-65C9-4E76-ABEF-686CBE8C2322 wds:Q34260042-3EC7D6BF-62F4-4E3F-B309-2CDDD61D016D wds:Q24313576-182D41E1-DA62-465C-B587-4A40C47C5064

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 193 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software