FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3157635384> ?p ?o ?g. }

• W3157635384 abstract "Retinitis pigmentosa (RP) is a rare, progressive disease that affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is currently no therapeutic options to slow down the progression of or cure the disease. The development of effective therapies was largely hindered by high genetic heterogeneity, inaccessible disease tissue, and unfaithful model organisms. The fact that components of ubiquitously expressed splicing factors lead to the retina-specific disease is an additional intriguing question. Herein, we sought to correlate the retinal cell-type-specific disease phenotype with the splicing profile shown by a patient with autosomal recessive RP, caused by a mutation in pre-mRNA splicing factor 8 (PRPF8). In order to get insight into the role of PRPF8 in homeostasis and disease, we capitalize on the ability to generate patient-specific RPE cells and reveal differentially expressed genes unique to RPE cells. We found that spliceosomal complex and ribosomal functions are crucial in determining cell-type specificity through differential expression and alternative splicing (AS) and that PRPF8 mutation causes global changes in splice site selection and exon inclusion that particularly affect genes involved in these cellular functions. This finding corroborates the hypothesis that retinal tissue identity is conferred by a specific splicing program and identifies retinal AS events as a framework toward the design of novel therapeutic opportunities." @default.
• W3157635384 created "2021-05-10" @default.
• W3157635384 creator A5010397583 @default.
• W3157635384 creator A5013301689 @default.
• W3157635384 creator A5017950440 @default.
• W3157635384 creator A5018392859 @default.
• W3157635384 creator A5020339982 @default.
• W3157635384 creator A5035827719 @default.
• W3157635384 creator A5036293904 @default.
• W3157635384 creator A5039001183 @default.
• W3157635384 creator A5042892159 @default.
• W3157635384 creator A5047783847 @default.
• W3157635384 creator A5049282261 @default.
• W3157635384 creator A5052959084 @default.
• W3157635384 creator A5079375335 @default.
• W3157635384 creator A5083220703 @default.
• W3157635384 creator A5084006616 @default.
• W3157635384 date "2021-04-29" @default.
• W3157635384 modified "2023-10-17" @default.
• W3157635384 title "Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells" @default.
• W3157635384 cites W1971846931 @default.
• W3157635384 cites W1973029281 @default.
• W3157635384 cites W1974047233 @default.
• W3157635384 cites W1979765627 @default.
• W3157635384 cites W1981218311 @default.
• W3157635384 cites W2013744830 @default.
• W3157635384 cites W2031043210 @default.
• W3157635384 cites W2036505824 @default.
• W3157635384 cites W2038617558 @default.
• W3157635384 cites W2049110540 @default.
• W3157635384 cites W2051694176 @default.
• W3157635384 cites W2052450058 @default.
• W3157635384 cites W2066502840 @default.
• W3157635384 cites W2081914422 @default.
• W3157635384 cites W2083729128 @default.
• W3157635384 cites W2098516117 @default.
• W3157635384 cites W2100844463 @default.
• W3157635384 cites W2103017472 @default.
• W3157635384 cites W2103693357 @default.
• W3157635384 cites W2107018762 @default.
• W3157635384 cites W2112782015 @default.
• W3157635384 cites W2125755023 @default.
• W3157635384 cites W2127284906 @default.
• W3157635384 cites W2129174402 @default.
• W3157635384 cites W2134526812 @default.
• W3157635384 cites W2142464825 @default.
• W3157635384 cites W2143350291 @default.
• W3157635384 cites W2144154285 @default.
• W3157635384 cites W2145825942 @default.
• W3157635384 cites W2148362725 @default.
• W3157635384 cites W2149738882 @default.
• W3157635384 cites W2152090260 @default.
• W3157635384 cites W2154826595 @default.
• W3157635384 cites W2157338021 @default.
• W3157635384 cites W2157561436 @default.
• W3157635384 cites W2168675625 @default.
• W3157635384 cites W2173732482 @default.
• W3157635384 cites W2174638579 @default.
• W3157635384 cites W2177009097 @default.
• W3157635384 cites W2199356015 @default.
• W3157635384 cites W2337463877 @default.
• W3157635384 cites W2432815617 @default.
• W3157635384 cites W2601018112 @default.
• W3157635384 cites W2734511810 @default.
• W3157635384 cites W2743636198 @default.
• W3157635384 cites W2765900459 @default.
• W3157635384 cites W2776970920 @default.
• W3157635384 cites W2904911250 @default.
• W3157635384 cites W2921856972 @default.
• W3157635384 cites W2949317881 @default.
• W3157635384 cites W2950595506 @default.
• W3157635384 cites W3000387778 @default.
• W3157635384 cites W3013848031 @default.
• W3157635384 cites W3013850155 @default.
• W3157635384 cites W4211099883 @default.
• W3157635384 doi "https://doi.org/10.3389/fnins.2021.636969" @default.
• W3157635384 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8116631" @default.
• W3157635384 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33994920" @default.
• W3157635384 hasPublicationYear "2021" @default.
• W3157635384 type Work @default.
• W3157635384 sameAs 3157635384 @default.
• W3157635384 citedByCount "5" @default.
• W3157635384 countsByYear W31576353842022 @default.
• W3157635384 countsByYear W31576353842023 @default.
• W3157635384 crossrefType "journal-article" @default.
• W3157635384 hasAuthorship W3157635384A5010397583 @default.
• W3157635384 hasAuthorship W3157635384A5013301689 @default.
• W3157635384 hasAuthorship W3157635384A5017950440 @default.
• W3157635384 hasAuthorship W3157635384A5018392859 @default.
• W3157635384 hasAuthorship W3157635384A5020339982 @default.
• W3157635384 hasAuthorship W3157635384A5035827719 @default.
• W3157635384 hasAuthorship W3157635384A5036293904 @default.
• W3157635384 hasAuthorship W3157635384A5039001183 @default.
• W3157635384 hasAuthorship W3157635384A5042892159 @default.
• W3157635384 hasAuthorship W3157635384A5047783847 @default.
• W3157635384 hasAuthorship W3157635384A5049282261 @default.
• W3157635384 hasAuthorship W3157635384A5052959084 @default.
• W3157635384 hasAuthorship W3157635384A5079375335 @default.
• W3157635384 hasAuthorship W3157635384A5083220703 @default.
• W3157635384 hasAuthorship W3157635384A5084006616 @default.

• next