Matches in SemOpenAlex for { <https://semopenalex.org/work/W4317931036> ?p ?o ?g. }
- W4317931036 endingPage "2222" @default.
- W4317931036 startingPage "2222" @default.
- W4317931036 abstract "Mutations in the GJA1 gene that encodes connexin43 (Cx43) cause several rare genetic disorders, including diseases affecting the epidermis. Here, we examined the in vitro functional consequences of a Cx43 mutation, Cx43-G38E, linked to a novel human phenotype of hypotrichosis, follicular keratosis and hyperostosis. We found that Cx43-G38E was efficiently translated in Xenopus oocytes and localized to gap junction plaques in transfected HeLa cells. Cx43-G38E formed functional gap junction channels with the same efficiency as wild-type Cx43 in Xenopus oocytes, although voltage gating of the gap junction channels was altered. Notably, Cx43-G38E significantly increased membrane current flow through the formation of active hemichannels when compared to wild-type Cx43. These data demonstrate the association of increased hemichannel activity to a connexin mutation linked to a skeletal-cutaneous phenotype, suggesting that augmented hemichannel activity could play a role in skin and skeletal disorders caused by human Cx43 mutations." @default.
- W4317931036 created "2023-01-25" @default.
- W4317931036 creator A5044719208 @default.
- W4317931036 creator A5050371244 @default.
- W4317931036 creator A5058750552 @default.
- W4317931036 creator A5081243226 @default.
- W4317931036 date "2023-01-22" @default.
- W4317931036 modified "2023-10-01" @default.
- W4317931036 title "Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis" @default.
- W4317931036 cites W1012799714 @default.
- W4317931036 cites W1546157935 @default.
- W4317931036 cites W1564267574 @default.
- W4317931036 cites W1605025912 @default.
- W4317931036 cites W1968411842 @default.
- W4317931036 cites W1973057187 @default.
- W4317931036 cites W1977681194 @default.
- W4317931036 cites W1980950328 @default.
- W4317931036 cites W1982524452 @default.
- W4317931036 cites W1984604492 @default.
- W4317931036 cites W1989234611 @default.
- W4317931036 cites W1989813676 @default.
- W4317931036 cites W1990424793 @default.
- W4317931036 cites W2005462392 @default.
- W4317931036 cites W2006020425 @default.
- W4317931036 cites W2014903264 @default.
- W4317931036 cites W2017588225 @default.
- W4317931036 cites W2018522659 @default.
- W4317931036 cites W2025894743 @default.
- W4317931036 cites W2030656173 @default.
- W4317931036 cites W2033492711 @default.
- W4317931036 cites W2050159014 @default.
- W4317931036 cites W2050395853 @default.
- W4317931036 cites W2058169430 @default.
- W4317931036 cites W2058740279 @default.
- W4317931036 cites W2060889342 @default.
- W4317931036 cites W2066345291 @default.
- W4317931036 cites W2078603061 @default.
- W4317931036 cites W2085689390 @default.
- W4317931036 cites W2091595489 @default.
- W4317931036 cites W2098660246 @default.
- W4317931036 cites W2099540110 @default.
- W4317931036 cites W2102155514 @default.
- W4317931036 cites W2114540884 @default.
- W4317931036 cites W2125511062 @default.
- W4317931036 cites W2129363034 @default.
- W4317931036 cites W2136556762 @default.
- W4317931036 cites W2138356252 @default.
- W4317931036 cites W2140018947 @default.
- W4317931036 cites W2141270362 @default.
- W4317931036 cites W2142674130 @default.
- W4317931036 cites W2145356867 @default.
- W4317931036 cites W2150947526 @default.
- W4317931036 cites W2157196026 @default.
- W4317931036 cites W2159874726 @default.
- W4317931036 cites W2163830162 @default.
- W4317931036 cites W2168245937 @default.
- W4317931036 cites W2189608855 @default.
- W4317931036 cites W2221709524 @default.
- W4317931036 cites W2232690243 @default.
- W4317931036 cites W2238383338 @default.
- W4317931036 cites W2296294823 @default.
- W4317931036 cites W2399992218 @default.
- W4317931036 cites W2609816607 @default.
- W4317931036 cites W2736010006 @default.
- W4317931036 cites W2744510683 @default.
- W4317931036 cites W2751717512 @default.
- W4317931036 cites W2897575226 @default.
- W4317931036 cites W2910141058 @default.
- W4317931036 cites W2916372733 @default.
- W4317931036 cites W2991991804 @default.
- W4317931036 cites W2995576293 @default.
- W4317931036 cites W3034371682 @default.
- W4317931036 cites W3119013734 @default.
- W4317931036 cites W3140661778 @default.
- W4317931036 cites W3211362186 @default.
- W4317931036 cites W4200550455 @default.
- W4317931036 cites W4223587944 @default.
- W4317931036 cites W4281679273 @default.
- W4317931036 cites W4281724777 @default.
- W4317931036 cites W4288424376 @default.
- W4317931036 cites W3120829270 @default.
- W4317931036 doi "https://doi.org/10.3390/ijms24032222" @default.
- W4317931036 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36768546" @default.
- W4317931036 hasPublicationYear "2023" @default.
- W4317931036 type Work @default.
- W4317931036 citedByCount "0" @default.
- W4317931036 crossrefType "journal-article" @default.
- W4317931036 hasAuthorship W4317931036A5044719208 @default.
- W4317931036 hasAuthorship W4317931036A5050371244 @default.
- W4317931036 hasAuthorship W4317931036A5058750552 @default.
- W4317931036 hasAuthorship W4317931036A5081243226 @default.
- W4317931036 hasBestOaLocation W43179310361 @default.
- W4317931036 hasConcept C104317684 @default.
- W4317931036 hasConcept C127716648 @default.
- W4317931036 hasConcept C158157758 @default.
- W4317931036 hasConcept C2778102086 @default.
- W4317931036 hasConcept C2779535977 @default.
- W4317931036 hasConcept C2780228694 @default.