Matches in SemOpenAlex for { <https://semopenalex.org/work/W4376872423> ?p ?o ?g. }
Showing items 1 to 89 of
89
with 100 items per page.
- W4376872423 endingPage "2702" @default.
- W4376872423 startingPage "2690" @default.
- W4376872423 abstract "The study aimed to explore the pathogenicity of RET p.Phe147del in a Hirschsprung'irschspru (HSCR) family and facilitate the deeper understanding of HSCR families.Whole-exome sequencing (WES) was performed to decipher a HSCR family. We used a GlycoEP tool to analyze RET protein glycosylation. A series of molecular biological approaches including mutated plasmid construction, cell transfection, polymerase chain reaction, immunofluorescence and immunoblotting were introduced to determine the mutation status and altered expression of RET as well as its related genes or proteins. MG132 was applied to analyze the mechanism of mutated RET.WES and Sanger results revealed that p.Phe147del in-frame mutation (IM) was a potential pathogenetic factor for familial HSCR. Moreover, the IM led to disrupted N-glycosylation of RET accompanied with protein structural change, resulting in the decreased transcriptional and protein level of RET, CCND1, VEGF and BCL2, and the decreased protein level of phosphorylated ERK and STAT3. Further studies revealed that the IM-evoked RET decline was reversed by inhibiting proteosome in a dose dependent manner, thus suggesting that the decrease in intracellular RET protein levels interrupted the transportation of RET protein from the cytoplasm to the cell surface.The newly found p.Phe147del IM of RET is pathogenic to familial HSCR and it disrupts RET structure and abundance via the proteasome pathway, representing evidence for the early prevention, clinical diagnosis and treatment of HSCR." @default.
- W4376872423 created "2023-05-18" @default.
- W4376872423 creator A5013948225 @default.
- W4376872423 creator A5020064716 @default.
- W4376872423 creator A5027254893 @default.
- W4376872423 creator A5041699651 @default.
- W4376872423 creator A5081309714 @default.
- W4376872423 date "2023-01-01" @default.
- W4376872423 modified "2023-09-29" @default.
- W4376872423 title "Pathogenicity of p.Phe147del in RET in familial Hirschsprung's disease." @default.
- W4376872423 cites W1559221121 @default.
- W4376872423 cites W1964369824 @default.
- W4376872423 cites W1969239435 @default.
- W4376872423 cites W1981173539 @default.
- W4376872423 cites W1985454650 @default.
- W4376872423 cites W2052730253 @default.
- W4376872423 cites W2392650683 @default.
- W4376872423 cites W2395949328 @default.
- W4376872423 cites W2549963625 @default.
- W4376872423 cites W2756601401 @default.
- W4376872423 cites W2795278929 @default.
- W4376872423 cites W2908937977 @default.
- W4376872423 cites W2940312081 @default.
- W4376872423 cites W2947357138 @default.
- W4376872423 cites W2972786215 @default.
- W4376872423 cites W2995258835 @default.
- W4376872423 cites W3015366694 @default.
- W4376872423 cites W3043126734 @default.
- W4376872423 cites W3089012118 @default.
- W4376872423 cites W3122105450 @default.
- W4376872423 cites W3153915927 @default.
- W4376872423 cites W3169345916 @default.
- W4376872423 cites W3195923485 @default.
- W4376872423 cites W4226307538 @default.
- W4376872423 cites W4281775305 @default.
- W4376872423 cites W4308702038 @default.
- W4376872423 cites W4311424569 @default.
- W4376872423 cites W4312113029 @default.
- W4376872423 cites W4315798100 @default.
- W4376872423 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37193168" @default.
- W4376872423 hasPublicationYear "2023" @default.
- W4376872423 type Work @default.
- W4376872423 citedByCount "0" @default.
- W4376872423 crossrefType "journal-article" @default.
- W4376872423 hasAuthorship W4376872423A5013948225 @default.
- W4376872423 hasAuthorship W4376872423A5020064716 @default.
- W4376872423 hasAuthorship W4376872423A5027254893 @default.
- W4376872423 hasAuthorship W4376872423A5041699651 @default.
- W4376872423 hasAuthorship W4376872423A5081309714 @default.
- W4376872423 hasConcept C104317684 @default.
- W4376872423 hasConcept C153911025 @default.
- W4376872423 hasConcept C2776719180 @default.
- W4376872423 hasConcept C2780394083 @default.
- W4376872423 hasConcept C501734568 @default.
- W4376872423 hasConcept C502942594 @default.
- W4376872423 hasConcept C54355233 @default.
- W4376872423 hasConcept C75563809 @default.
- W4376872423 hasConcept C76818968 @default.
- W4376872423 hasConcept C86803240 @default.
- W4376872423 hasConceptScore W4376872423C104317684 @default.
- W4376872423 hasConceptScore W4376872423C153911025 @default.
- W4376872423 hasConceptScore W4376872423C2776719180 @default.
- W4376872423 hasConceptScore W4376872423C2780394083 @default.
- W4376872423 hasConceptScore W4376872423C501734568 @default.
- W4376872423 hasConceptScore W4376872423C502942594 @default.
- W4376872423 hasConceptScore W4376872423C54355233 @default.
- W4376872423 hasConceptScore W4376872423C75563809 @default.
- W4376872423 hasConceptScore W4376872423C76818968 @default.
- W4376872423 hasConceptScore W4376872423C86803240 @default.
- W4376872423 hasIssue "4" @default.
- W4376872423 hasLocation W43768724231 @default.
- W4376872423 hasOpenAccess W4376872423 @default.
- W4376872423 hasPrimaryLocation W43768724231 @default.
- W4376872423 hasRelatedWork W2337454955 @default.
- W4376872423 hasRelatedWork W2395947759 @default.
- W4376872423 hasRelatedWork W2574921060 @default.
- W4376872423 hasRelatedWork W2920096867 @default.
- W4376872423 hasRelatedWork W2981539366 @default.
- W4376872423 hasRelatedWork W3024306633 @default.
- W4376872423 hasRelatedWork W3024335473 @default.
- W4376872423 hasRelatedWork W3024578347 @default.
- W4376872423 hasRelatedWork W3034319493 @default.
- W4376872423 hasRelatedWork W3037357169 @default.
- W4376872423 hasVolume "15" @default.
- W4376872423 isParatext "false" @default.
- W4376872423 isRetracted "false" @default.
- W4376872423 workType "article" @default.