FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3140944384> ?p ?o ?g. }

• W3140944384 endingPage "3484" @default.
• W3140944384 startingPage "3484" @default.
• W3140944384 abstract "Background: Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents. Methods: Mutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents. Afterwards, found variants were deeply, statistically, and in silico characterized to determine their possible effects and association with RPA. Results: Both brothers carry three missense PRPH2 variants in a homozygous condition (c.910C > A, c.929G > A, and c.1013A > C) and two promoter variants in RHO (c.-26A > G) and RLBP1 (c.-70G > A) genes, respectively. Haplotype analyses highlighted a PRPH2 rare haplotype variant (GAG), determining a possible alteration of PRPH2 binding with melanoregulin and other outer segment proteins, followed by photoreceptor outer segment instability. Furthermore, an altered balance of transcription factor binding sites, due to the presence of RHO and RLBP1 promoter variants, might determine a comprehensive downregulation of both genes, possibly altering the PRPH2 shared visual-related pathway. Conclusions: Despite several limitations, the study might be a relevant step towards detection of novel scenarios in RPA etiopathogenesis." @default.
• W3140944384 created "2021-04-13" @default.
• W3140944384 creator A5010857496 @default.
• W3140944384 creator A5021179791 @default.
• W3140944384 creator A5031103156 @default.
• W3140944384 creator A5033624082 @default.
• W3140944384 creator A5038196489 @default.
• W3140944384 creator A5047924014 @default.
• W3140944384 creator A5069480245 @default.
• W3140944384 creator A5085899563 @default.
• W3140944384 date "2021-03-27" @default.
• W3140944384 modified "2023-10-03" @default.
• W3140944384 title "Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling" @default.
• W3140944384 cites W1529839198 @default.
• W3140944384 cites W1560485148 @default.
• W3140944384 cites W1803102843 @default.
• W3140944384 cites W1963851137 @default.
• W3140944384 cites W1964998512 @default.
• W3140944384 cites W1965395294 @default.
• W3140944384 cites W1973370148 @default.
• W3140944384 cites W1980805294 @default.
• W3140944384 cites W1985213868 @default.
• W3140944384 cites W1987134040 @default.
• W3140944384 cites W1994840640 @default.
• W3140944384 cites W2003114121 @default.
• W3140944384 cites W2009134294 @default.
• W3140944384 cites W2016410640 @default.
• W3140944384 cites W2028142113 @default.
• W3140944384 cites W2034894297 @default.
• W3140944384 cites W2044301836 @default.
• W3140944384 cites W2050899411 @default.
• W3140944384 cites W2058390366 @default.
• W3140944384 cites W2072887510 @default.
• W3140944384 cites W2074151372 @default.
• W3140944384 cites W2083287420 @default.
• W3140944384 cites W2087126025 @default.
• W3140944384 cites W2089140433 @default.
• W3140944384 cites W2090430326 @default.
• W3140944384 cites W2091849628 @default.
• W3140944384 cites W2095822220 @default.
• W3140944384 cites W2102553480 @default.
• W3140944384 cites W2108733637 @default.
• W3140944384 cites W2118848666 @default.
• W3140944384 cites W2155142785 @default.
• W3140944384 cites W2161974675 @default.
• W3140944384 cites W2162530578 @default.
• W3140944384 cites W2166873040 @default.
• W3140944384 cites W2256016639 @default.
• W3140944384 cites W2406171343 @default.
• W3140944384 cites W2527021297 @default.
• W3140944384 cites W2599265893 @default.
• W3140944384 cites W2606338729 @default.
• W3140944384 cites W2616625961 @default.
• W3140944384 cites W2619369624 @default.
• W3140944384 cites W2734356283 @default.
• W3140944384 cites W2740882696 @default.
• W3140944384 cites W2765080153 @default.
• W3140944384 cites W2765787105 @default.
• W3140944384 cites W2766463108 @default.
• W3140944384 cites W2772514113 @default.
• W3140944384 cites W2785777339 @default.
• W3140944384 cites W2794919915 @default.
• W3140944384 cites W2800660210 @default.
• W3140944384 cites W2886439582 @default.
• W3140944384 cites W2896663140 @default.
• W3140944384 cites W2912701167 @default.
• W3140944384 cites W3015800847 @default.
• W3140944384 cites W3016488212 @default.
• W3140944384 cites W3104237103 @default.
• W3140944384 cites W3108851097 @default.
• W3140944384 cites W3114491445 @default.
• W3140944384 cites W4250359879 @default.
• W3140944384 doi "https://doi.org/10.3390/ijms22073484" @default.
• W3140944384 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8036374" @default.
• W3140944384 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33801777" @default.
• W3140944384 hasPublicationYear "2021" @default.
• W3140944384 type Work @default.
• W3140944384 sameAs 3140944384 @default.
• W3140944384 citedByCount "27" @default.
• W3140944384 countsByYear W31409443842021 @default.
• W3140944384 countsByYear W31409443842022 @default.
• W3140944384 countsByYear W31409443842023 @default.
• W3140944384 crossrefType "journal-article" @default.
• W3140944384 hasAuthorship W3140944384A5010857496 @default.
• W3140944384 hasAuthorship W3140944384A5021179791 @default.
• W3140944384 hasAuthorship W3140944384A5031103156 @default.
• W3140944384 hasAuthorship W3140944384A5033624082 @default.
• W3140944384 hasAuthorship W3140944384A5038196489 @default.
• W3140944384 hasAuthorship W3140944384A5047924014 @default.
• W3140944384 hasAuthorship W3140944384A5069480245 @default.
• W3140944384 hasAuthorship W3140944384A5085899563 @default.
• W3140944384 hasBestOaLocation W31409443841 @default.
• W3140944384 hasConcept C104317684 @default.
• W3140944384 hasConcept C127716648 @default.
• W3140944384 hasConcept C180754005 @default.
• W3140944384 hasConcept C188997412 @default.
• W3140944384 hasConcept C197754878 @default.
• W3140944384 hasConcept C2781114197 @default.

• next