Matches in SemOpenAlex for { <https://semopenalex.org/work/W3173974323> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W3173974323 endingPage "6" @default.
- W3173974323 startingPage "1" @default.
- W3173974323 abstract "The pathogenic variant, POU class 4 transcription factor 3 (POU4F3), is reported to cause autosomal dominant nonsyndromic hearing loss (ADNSHL). Previously, we have examined a four-generation midfrequency sensorineural hearing loss (MFSNHL) family (no. 6126) and established POU4F3 c.602T>C (p.Leu201Pro) as a potential disease-causing variant.We explored the structural and functional alterations that the c.602T>C (p.Leu201Pro) variant enforces on the POU4F3 protein.We utilized wild-type (WT) and mutant (MUT) POU4F3 c.602T>C plasmid incorporation into HeLa cells to assess functional changes, by immunofluorescence and luciferase assays. To predict protein structural alterations in the MUT versus WT POU4F3, we also generated 3D structures to compare both types of POU4F3 proteins.The WT POU4F3 is ubiquitously present in the nucleus, whereas the MUT form of POU4F3 exhibits a more restricted nuclear presence. This finding is different from other publications, which report a cytoplasmic localization of the MUT POU4F3. We also demonstrated that, as opposed to WT POU4F3, the MUT POU4F3 had 40% reduced luciferase activity.The reduced nuclear presence, combined with reduced transcriptional activity, suggests that the POU4F3 c.602T>C variant alters cellular activity and may contribute to the pathogenicity of POU4F3-related hearing loss. It, also, provides more evidence of the pathophysiological characteristics of MFSNHL." @default.
- W3173974323 created "2021-07-05" @default.
- W3173974323 creator A5011172190 @default.
- W3173974323 creator A5055649194 @default.
- W3173974323 creator A5058208942 @default.
- W3173974323 creator A5075778732 @default.
- W3173974323 creator A5076701232 @default.
- W3173974323 date "2021-06-21" @default.
- W3173974323 modified "2023-10-16" @default.
- W3173974323 title "A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities" @default.
- W3173974323 cites W1988448653 @default.
- W3173974323 cites W2027531766 @default.
- W3173974323 cites W2036700212 @default.
- W3173974323 cites W2068925449 @default.
- W3173974323 cites W2071509939 @default.
- W3173974323 cites W2073495138 @default.
- W3173974323 cites W2090849965 @default.
- W3173974323 cites W2092373233 @default.
- W3173974323 cites W2107658807 @default.
- W3173974323 cites W2132437664 @default.
- W3173974323 cites W2142535900 @default.
- W3173974323 cites W2146123040 @default.
- W3173974323 cites W2157870932 @default.
- W3173974323 cites W2165133563 @default.
- W3173974323 cites W2166120278 @default.
- W3173974323 cites W2170655888 @default.
- W3173974323 cites W2513945914 @default.
- W3173974323 cites W2551143672 @default.
- W3173974323 cites W2559833464 @default.
- W3173974323 cites W2561326546 @default.
- W3173974323 cites W2615704118 @default.
- W3173974323 cites W2795494479 @default.
- W3173974323 cites W2911230071 @default.
- W3173974323 cites W2973230464 @default.
- W3173974323 cites W3039212237 @default.
- W3173974323 cites W4251261543 @default.
- W3173974323 doi "https://doi.org/10.1155/2021/5574136" @default.
- W3173974323 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8238589" @default.
- W3173974323 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34250087" @default.
- W3173974323 hasPublicationYear "2021" @default.
- W3173974323 type Work @default.
- W3173974323 sameAs 3173974323 @default.
- W3173974323 citedByCount "1" @default.
- W3173974323 countsByYear W31739743232022 @default.
- W3173974323 crossrefType "journal-article" @default.
- W3173974323 hasAuthorship W3173974323A5011172190 @default.
- W3173974323 hasAuthorship W3173974323A5055649194 @default.
- W3173974323 hasAuthorship W3173974323A5058208942 @default.
- W3173974323 hasAuthorship W3173974323A5075778732 @default.
- W3173974323 hasAuthorship W3173974323A5076701232 @default.
- W3173974323 hasBestOaLocation W31739743231 @default.
- W3173974323 hasConcept C185592680 @default.
- W3173974323 hasConcept C2778004101 @default.
- W3173974323 hasConcept C2778401633 @default.
- W3173974323 hasConcept C55493867 @default.
- W3173974323 hasConcept C86803240 @default.
- W3173974323 hasConceptScore W3173974323C185592680 @default.
- W3173974323 hasConceptScore W3173974323C2778004101 @default.
- W3173974323 hasConceptScore W3173974323C2778401633 @default.
- W3173974323 hasConceptScore W3173974323C55493867 @default.
- W3173974323 hasConceptScore W3173974323C86803240 @default.
- W3173974323 hasFunder F4320329797 @default.
- W3173974323 hasLocation W31739743231 @default.
- W3173974323 hasLocation W31739743232 @default.
- W3173974323 hasLocation W31739743233 @default.
- W3173974323 hasOpenAccess W3173974323 @default.
- W3173974323 hasPrimaryLocation W31739743231 @default.
- W3173974323 hasRelatedWork W1531601525 @default.
- W3173974323 hasRelatedWork W1990781990 @default.
- W3173974323 hasRelatedWork W2104604555 @default.
- W3173974323 hasRelatedWork W2384464875 @default.
- W3173974323 hasRelatedWork W2606230654 @default.
- W3173974323 hasRelatedWork W2607424097 @default.
- W3173974323 hasRelatedWork W2748952813 @default.
- W3173974323 hasRelatedWork W2899084033 @default.
- W3173974323 hasRelatedWork W2948807893 @default.
- W3173974323 hasRelatedWork W2778153218 @default.
- W3173974323 hasVolume "2021" @default.
- W3173974323 isParatext "false" @default.
- W3173974323 isRetracted "false" @default.
- W3173974323 magId "3173974323" @default.
- W3173974323 workType "article" @default.