FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015536558> ?p ?o ?g. }

• W2015536558 endingPage "1485" @default.
• W2015536558 startingPage "1475" @default.
• W2015536558 abstract "NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a transcription factor of the nuclear hormone receptor superfamily whose expression is uniquely restricted to photoreceptors. There, its physiological activity is essential for proper rod and cone photoreceptor development and maintenance. Thirty-two different mutations in NR2E3 have been identified in either homozygous or compound heterozygous state in the recessively inherited enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD). The clinical phenotype common to all these patients is night blindness, rudimental or absent rod function, and hyperfunction of the blue S-cones. A single p.G56R mutation is inherited in a dominant manner and causes retinitis pigmentosa (RP). We have established a new locus-specific database for NR2E3 (www.LOVD.nl/eye), containing all reported mutations, polymorphisms, and unclassified sequence variants, including novel ones. A high proportion of mutations are located in the evolutionarily-conserved DNA-binding domains (DBDs) and ligand-binding domains (LBDs) of NR2E3. Based on homology modeling of these NR2E3 domains, we propose a structural localization of mutated residues. The high variability of clinical phenotypes observed in patients affected by NR2E3-linked retinal degenerations may be caused by different disease mechanisms, including absence of DNA-binding, altered interactions with transcriptional coregulators, and differential activity of modifier genes." @default.
• W2015536558 created "2016-06-24" @default.
• W2015536558 creator A5009716617 @default.
• W2015536558 creator A5027776077 @default.
• W2015536558 date "2009-11-01" @default.
• W2015536558 modified "2023-10-02" @default.
• W2015536558 title "<i>NR2E3</i>mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)" @default.
• W2015536558 cites W1490923524 @default.
• W2015536558 cites W1525882285 @default.
• W2015536558 cites W1967008449 @default.
• W2015536558 cites W1967195106 @default.
• W2015536558 cites W1968703962 @default.
• W2015536558 cites W1974832413 @default.
• W2015536558 cites W1976602229 @default.
• W2015536558 cites W1980872741 @default.
• W2015536558 cites W1981155478 @default.
• W2015536558 cites W1986119270 @default.
• W2015536558 cites W1987384098 @default.
• W2015536558 cites W1990401322 @default.
• W2015536558 cites W1993850233 @default.
• W2015536558 cites W1996364002 @default.
• W2015536558 cites W2001820033 @default.
• W2015536558 cites W2010921343 @default.
• W2015536558 cites W2021621448 @default.
• W2015536558 cites W2027066480 @default.
• W2015536558 cites W2027327502 @default.
• W2015536558 cites W2027616053 @default.
• W2015536558 cites W2037458235 @default.
• W2015536558 cites W2046255366 @default.
• W2015536558 cites W2046667570 @default.
• W2015536558 cites W2049997790 @default.
• W2015536558 cites W2051001106 @default.
• W2015536558 cites W2051137333 @default.
• W2015536558 cites W2052658245 @default.
• W2015536558 cites W2053467467 @default.
• W2015536558 cites W2056225236 @default.
• W2015536558 cites W2056493677 @default.
• W2015536558 cites W2057595649 @default.
• W2015536558 cites W2057848304 @default.
• W2015536558 cites W2059344357 @default.
• W2015536558 cites W2059519132 @default.
• W2015536558 cites W2062075767 @default.
• W2015536558 cites W2062279575 @default.
• W2015536558 cites W2067805127 @default.
• W2015536558 cites W2068682164 @default.
• W2015536558 cites W2072414883 @default.
• W2015536558 cites W2079551130 @default.
• W2015536558 cites W2086622854 @default.
• W2015536558 cites W2086797522 @default.
• W2015536558 cites W2092674368 @default.
• W2015536558 cites W2099101325 @default.
• W2015536558 cites W2099545629 @default.
• W2015536558 cites W2100465145 @default.
• W2015536558 cites W2103598247 @default.
• W2015536558 cites W2113963038 @default.
• W2015536558 cites W2122088274 @default.
• W2015536558 cites W2127724565 @default.
• W2015536558 cites W2133622730 @default.
• W2015536558 cites W2134168057 @default.
• W2015536558 cites W2136361749 @default.
• W2015536558 cites W2136899592 @default.
• W2015536558 cites W2145527032 @default.
• W2015536558 cites W2148973171 @default.
• W2015536558 cites W2151934068 @default.
• W2015536558 cites W2152301430 @default.
• W2015536558 cites W2153894541 @default.
• W2015536558 cites W2156281856 @default.
• W2015536558 cites W2156862290 @default.
• W2015536558 cites W2157191738 @default.
• W2015536558 cites W2157773282 @default.
• W2015536558 cites W2172163563 @default.
• W2015536558 cites W2172256092 @default.
• W2015536558 cites W4211099883 @default.
• W2015536558 doi "https://doi.org/10.1002/humu.21096" @default.
• W2015536558 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19718767" @default.
• W2015536558 hasPublicationYear "2009" @default.
• W2015536558 type Work @default.
• W2015536558 sameAs 2015536558 @default.
• W2015536558 citedByCount "85" @default.
• W2015536558 countsByYear W20155365582012 @default.
• W2015536558 countsByYear W20155365582013 @default.
• W2015536558 countsByYear W20155365582014 @default.
• W2015536558 countsByYear W20155365582015 @default.
• W2015536558 countsByYear W20155365582016 @default.
• W2015536558 countsByYear W20155365582017 @default.
• W2015536558 countsByYear W20155365582018 @default.
• W2015536558 countsByYear W20155365582019 @default.
• W2015536558 countsByYear W20155365582020 @default.
• W2015536558 countsByYear W20155365582021 @default.
• W2015536558 countsByYear W20155365582022 @default.
• W2015536558 countsByYear W20155365582023 @default.
• W2015536558 crossrefType "journal-article" @default.
• W2015536558 hasAuthorship W2015536558A5009716617 @default.
• W2015536558 hasAuthorship W2015536558A5027776077 @default.
• W2015536558 hasBestOaLocation W20155365581 @default.
• W2015536558 hasConcept C104317684 @default.
• W2015536558 hasConcept C127716648 @default.
• W2015536558 hasConcept C131667965 @default.

• next