FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W93304336> ?p ?o ?g. }

• W93304336 endingPage "97" @default.
• W93304336 startingPage "1983" @default.
• W93304336 abstract "To determine the disease expression in X-linked retinitis pigmentosa (XLRP) caused by a putative null mutation in the RPGR (retinitis pigmentosa GTPase regulator) gene.In a family with XLRP, haplotype analysis was performed with polymorphic microsatellite markers from the Xp chromosomal region, and genomic polymerase chain reaction sequencing was used to identify sequence variations in the RPGR gene. Hemizygotes and heterozygotes were evaluated clinically and with visual function tests. Optical coherence tomography (OCT) was performed on heterozygotes. Postmortem donor retinas from a heterozygote were examined by microscopy and immunocytochemistry.X-linked inheritance was confirmed by haplotype analysis using Xp markers. Sequence analysis of the RPGR gene identified a single base pair change, a G-->T transversion, that converts codon 52 GGA (Gly) to TGA (stop codon); the mutation segregates with the disease. A hemizygote in the third decade of life had barely measurable rod function and severely impaired cone function that diminished further over a 7-year interval. Heterozygotes varied in degree of disease expression from mild to severe. Perimetry showed loci with normal rod and cone sensitivity interspersed with loci having either equal rod and cone dysfunction or rod > cone dysfunction. Electroretinographic photoreceptor responses had equal reductions in rod and cone maximal amplitude. OCT cross sectional reflectance images of retinal regions with severe dysfunction showed reduced thickness of the retina and retinal pigment epithelium-choriocapillaris (RPE-CC) complex and increased reflections posteriorly. Regions with mild dysfunction showed similar OCT findings but with preserved retinal thickness. Retinal histopathology in a heterozygote revealed loss of photoreceptors throughout, with retention of only a few islands of cones with tiny or absent outer segments and rods lacking outer segments.This RPGR gene mutation, in its mildest expression in heterozygotes, causes a relatively equal disturbance of rod and cone photoreceptor function. Detectable structural change by OCT at the level of the RPE-CC can be present in patches of retina with minimal functional disturbance. More advanced disease stages in heterozygotes show greater rod than cone dysfunction, and the end stage in hemizygotes and heterozygotes is that of typical RP, with only barely detectable cone function from residual cones in a thinned retina with abnormal RPE and choriocapillaris." @default.
• W93304336 created "2016-06-24" @default.
• W93304336 creator A5031201705 @default.
• W93304336 creator A5038407054 @default.
• W93304336 creator A5039283242 @default.
• W93304336 creator A5046191879 @default.
• W93304336 creator A5050082615 @default.
• W93304336 creator A5050544784 @default.
• W93304336 creator A5051451613 @default.
• W93304336 creator A5054229008 @default.
• W93304336 creator A5070051718 @default.
• W93304336 creator A5075246209 @default.
• W93304336 date "1997-09-01" @default.
• W93304336 modified "2023-10-18" @default.
• W93304336 title "Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene." @default.
• W93304336 cites W100269696 @default.
• W93304336 cites W139021183 @default.
• W93304336 cites W1528353095 @default.
• W93304336 cites W1585962948 @default.
• W93304336 cites W1599659075 @default.
• W93304336 cites W1602076901 @default.
• W93304336 cites W160535061 @default.
• W93304336 cites W175058182 @default.
• W93304336 cites W2002275859 @default.
• W93304336 cites W2008396993 @default.
• W93304336 cites W2019676719 @default.
• W93304336 cites W2027291403 @default.
• W93304336 cites W2028312503 @default.
• W93304336 cites W2040541933 @default.
• W93304336 cites W2041337667 @default.
• W93304336 cites W2043394051 @default.
• W93304336 cites W2050243894 @default.
• W93304336 cites W2050849733 @default.
• W93304336 cites W2051602911 @default.
• W93304336 cites W2053002141 @default.
• W93304336 cites W2054328432 @default.
• W93304336 cites W205588752 @default.
• W93304336 cites W2058831382 @default.
• W93304336 cites W2061237558 @default.
• W93304336 cites W2061300251 @default.
• W93304336 cites W2062454926 @default.
• W93304336 cites W2076847840 @default.
• W93304336 cites W2078479930 @default.
• W93304336 cites W2079375346 @default.
• W93304336 cites W2082969689 @default.
• W93304336 cites W2115794463 @default.
• W93304336 cites W2157742969 @default.
• W93304336 cites W2165063229 @default.
• W93304336 cites W2313315218 @default.
• W93304336 cites W2413851973 @default.
• W93304336 cites W2418802570 @default.
• W93304336 cites W2419435915 @default.
• W93304336 cites W286048187 @default.
• W93304336 cites W47160530 @default.
• W93304336 cites W49874639 @default.
• W93304336 cites W62599577 @default.
• W93304336 cites W71001787 @default.
• W93304336 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9331262" @default.
• W93304336 hasPublicationYear "1997" @default.
• W93304336 type Work @default.
• W93304336 sameAs 93304336 @default.
• W93304336 citedByCount "42" @default.
• W93304336 countsByYear W933043362014 @default.
• W93304336 countsByYear W933043362015 @default.
• W93304336 countsByYear W933043362016 @default.
• W93304336 countsByYear W933043362019 @default.
• W93304336 countsByYear W933043362020 @default.
• W93304336 countsByYear W933043362021 @default.
• W93304336 countsByYear W933043362022 @default.
• W93304336 countsByYear W933043362023 @default.
• W93304336 crossrefType "journal-article" @default.
• W93304336 hasAuthorship W93304336A5031201705 @default.
• W93304336 hasAuthorship W93304336A5038407054 @default.
• W93304336 hasAuthorship W93304336A5039283242 @default.
• W93304336 hasAuthorship W93304336A5046191879 @default.
• W93304336 hasAuthorship W93304336A5050082615 @default.
• W93304336 hasAuthorship W93304336A5050544784 @default.
• W93304336 hasAuthorship W93304336A5051451613 @default.
• W93304336 hasAuthorship W93304336A5054229008 @default.
• W93304336 hasAuthorship W93304336A5070051718 @default.
• W93304336 hasAuthorship W93304336A5075246209 @default.
• W93304336 hasConcept C104317684 @default.
• W93304336 hasConcept C127716648 @default.
• W93304336 hasConcept C153471976 @default.
• W93304336 hasConcept C153911025 @default.
• W93304336 hasConcept C169760540 @default.
• W93304336 hasConcept C180754005 @default.
• W93304336 hasConcept C2777093970 @default.
• W93304336 hasConcept C2779113765 @default.
• W93304336 hasConcept C2780827179 @default.
• W93304336 hasConcept C2781114197 @default.
• W93304336 hasConcept C54355233 @default.
• W93304336 hasConcept C55493867 @default.
• W93304336 hasConcept C57708383 @default.
• W93304336 hasConcept C68838962 @default.
• W93304336 hasConcept C86803240 @default.
• W93304336 hasConceptScore W93304336C104317684 @default.
• W93304336 hasConceptScore W93304336C127716648 @default.

• next