Matches in SemOpenAlex for { <https://semopenalex.org/work/W4384925058> ?p ?o ?g. }
- W4384925058 abstract "Darier, Hailey-Hailey, and Grover’s diseases are rare acantholytic skin diseases. While these diseases have different underlying causes, they share defects in cell-cell adhesion in the epidermis and desmosome organization. To better understand the underlying mechanisms leading to disease in these conditions we performed RNA-seq on lesional skin samples from patients. The transcriptomic profiles of Darier, Hailey-Hailey, and Grover’s disease were found to share a remarkable overlap, which did not extend to other common inflammatory skin diseases. Analysis of enriched pathways showed a shared upregulation in keratinocyte differentiation, and a decrease in cell adhesion and actin organization pathways in Darier, Hailey-Hailey, and Grover’s disease. Direct comparison to atopic dermatitis and psoriasis showed that the downregulation in actin organization pathways was a unique feature in the acantholytic skin diseases. Further, upstream regulator analysis suggested that a decrease in SRF/MRTF activity was responsible for the downregulation of actin organization pathways. Staining for MRTFA in lesional skin samples showed a decrease in nuclear MRTFA in patient skin compared to normal skin. These findings highlight the significant level of similarity in the transcriptome of Darier, Hailey-Hailey, and Grover’s disease, and identify decreases in actin organization pathways as a unique signature present in these conditions." @default.
- W4384925058 created "2023-07-22" @default.
- W4384925058 creator A5011847077 @default.
- W4384925058 creator A5012593977 @default.
- W4384925058 creator A5018587810 @default.
- W4384925058 creator A5034688662 @default.
- W4384925058 creator A5044074291 @default.
- W4384925058 creator A5044405915 @default.
- W4384925058 creator A5054246236 @default.
- W4384925058 creator A5055512437 @default.
- W4384925058 creator A5056749846 @default.
- W4384925058 creator A5057653412 @default.
- W4384925058 creator A5074350192 @default.
- W4384925058 creator A5085939998 @default.
- W4384925058 creator A5088574888 @default.
- W4384925058 date "2023-08-22" @default.
- W4384925058 modified "2023-10-04" @default.
- W4384925058 title "Transcriptional profiling of rare acantholytic disorders suggests common mechanisms of pathogenesis" @default.
- W4384925058 cites W1495055348 @default.
- W4384925058 cites W1597952386 @default.
- W4384925058 cites W1827097565 @default.
- W4384925058 cites W1969512778 @default.
- W4384925058 cites W1969577103 @default.
- W4384925058 cites W1981284307 @default.
- W4384925058 cites W1981473197 @default.
- W4384925058 cites W1986097950 @default.
- W4384925058 cites W1988588543 @default.
- W4384925058 cites W1997411677 @default.
- W4384925058 cites W2003255668 @default.
- W4384925058 cites W2004346548 @default.
- W4384925058 cites W2009709747 @default.
- W4384925058 cites W2033700277 @default.
- W4384925058 cites W2049581032 @default.
- W4384925058 cites W2053456528 @default.
- W4384925058 cites W2058817902 @default.
- W4384925058 cites W2073835693 @default.
- W4384925058 cites W2074313481 @default.
- W4384925058 cites W2080047170 @default.
- W4384925058 cites W2082914449 @default.
- W4384925058 cites W2085442947 @default.
- W4384925058 cites W2091037673 @default.
- W4384925058 cites W2097340579 @default.
- W4384925058 cites W2119210949 @default.
- W4384925058 cites W2130410032 @default.
- W4384925058 cites W2151642090 @default.
- W4384925058 cites W2161549748 @default.
- W4384925058 cites W2172204402 @default.
- W4384925058 cites W2214074259 @default.
- W4384925058 cites W2405058103 @default.
- W4384925058 cites W2467623575 @default.
- W4384925058 cites W2586476886 @default.
- W4384925058 cites W2612161365 @default.
- W4384925058 cites W2749656666 @default.
- W4384925058 cites W2792856278 @default.
- W4384925058 cites W2889326414 @default.
- W4384925058 cites W2889588555 @default.
- W4384925058 cites W2908925106 @default.
- W4384925058 cites W2942610007 @default.
- W4384925058 cites W3088521497 @default.
- W4384925058 cites W3108737349 @default.
- W4384925058 cites W3158885087 @default.
- W4384925058 cites W4200412875 @default.
- W4384925058 cites W4298145762 @default.
- W4384925058 doi "https://doi.org/10.1172/jci.insight.168955" @default.
- W4384925058 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37471166" @default.
- W4384925058 hasPublicationYear "2023" @default.
- W4384925058 type Work @default.
- W4384925058 citedByCount "0" @default.
- W4384925058 crossrefType "journal-article" @default.
- W4384925058 hasAuthorship W4384925058A5011847077 @default.
- W4384925058 hasAuthorship W4384925058A5012593977 @default.
- W4384925058 hasAuthorship W4384925058A5018587810 @default.
- W4384925058 hasAuthorship W4384925058A5034688662 @default.
- W4384925058 hasAuthorship W4384925058A5044074291 @default.
- W4384925058 hasAuthorship W4384925058A5044405915 @default.
- W4384925058 hasAuthorship W4384925058A5054246236 @default.
- W4384925058 hasAuthorship W4384925058A5055512437 @default.
- W4384925058 hasAuthorship W4384925058A5056749846 @default.
- W4384925058 hasAuthorship W4384925058A5057653412 @default.
- W4384925058 hasAuthorship W4384925058A5074350192 @default.
- W4384925058 hasAuthorship W4384925058A5085939998 @default.
- W4384925058 hasAuthorship W4384925058A5088574888 @default.
- W4384925058 hasBestOaLocation W43849250581 @default.
- W4384925058 hasConcept C104317684 @default.
- W4384925058 hasConcept C105702510 @default.
- W4384925058 hasConcept C125705527 @default.
- W4384925058 hasConcept C127561419 @default.
- W4384925058 hasConcept C142724271 @default.
- W4384925058 hasConcept C1491633281 @default.
- W4384925058 hasConcept C150194340 @default.
- W4384925058 hasConcept C162317418 @default.
- W4384925058 hasConcept C203014093 @default.
- W4384925058 hasConcept C2776458125 @default.
- W4384925058 hasConcept C2777074287 @default.
- W4384925058 hasConcept C2778757060 @default.
- W4384925058 hasConcept C2780564577 @default.
- W4384925058 hasConcept C2780942790 @default.
- W4384925058 hasConcept C54355233 @default.
- W4384925058 hasConcept C71924100 @default.
- W4384925058 hasConcept C81885089 @default.