Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200435252> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W4200435252 abstract "Abstract Background Porokeratosis (PK) is considered a skin‐specific autoinflammatory keratinization disease. Intriguingly, four causative genes of PK are in turn arranged in mevalonate pathway, with MVD variants being the commonest followed by MVK variants in a cohort of Chinese patients. Evidence indicates that mevalonate metabolites induce trained immunity in human monocytes and regulate T cells at multiple levels. Of note, γδT cells are dually regulated by intracellular and extracellular mevalonate metabolism. Aims To identify the possible differences in T‐cell between MVK or MVD variants from PK patients. Materials & Methods Targeted exome sequencing and exonic CNV screening were performed in 26 patients with PK. Sanger sequencing was used to validate all identified variants. Among them, 22 patients were identified with MVK or MVD variants. PBMCs from 22 PK patients and 27 normal controls (NCs) were analysed by flow cytometry for the frequencies of T cells subsets, including IFN‐γ‐, and TNF‐α‐producing T cells. Results There were 14 mutations identified in the 26 PK patients, including 6 novel mutations ( MVK : c.118_226+1337dup, c.388_392delGATATinsC, c.613A>T, c.768G>C, and MVD : c.250C>T, c.988T>G). In contrast to NCs, significantly decreased frequencies of CD8 + and Vγ9Vδ2 T cells were observed in the PK patients with MVD variants. Moreover, it was found that dysregulated secretion of pro‐inflammatory cytokines by T cells in both PK patients with MVK and MVD variants. Conclusions Our findings enriched the Human Gene Mutation Databases and showed probable differences in peripheral T cells subsets between PK patients and controls." @default.
- W4200435252 created "2021-12-31" @default.
- W4200435252 creator A5000608022 @default.
- W4200435252 creator A5018919685 @default.
- W4200435252 creator A5021207503 @default.
- W4200435252 creator A5021440455 @default.
- W4200435252 creator A5033351939 @default.
- W4200435252 creator A5045934217 @default.
- W4200435252 date "2021-12-16" @default.
- W4200435252 modified "2023-09-26" @default.
- W4200435252 title "A preliminary study of peripheral T‐cell subsets in porokeratosis patients with <i>MVK</i> or <i>MVD</i> variants" @default.
- W4200435252 cites W1980597300 @default.
- W4200435252 cites W1999094102 @default.
- W4200435252 cites W2112631821 @default.
- W4200435252 cites W2162298266 @default.
- W4200435252 cites W2326583193 @default.
- W4200435252 cites W2474946177 @default.
- W4200435252 cites W2754454323 @default.
- W4200435252 cites W2802606877 @default.
- W4200435252 cites W2893646498 @default.
- W4200435252 cites W2941719685 @default.
- W4200435252 cites W2947312682 @default.
- W4200435252 cites W2951082012 @default.
- W4200435252 cites W3188371230 @default.
- W4200435252 cites W4200435252 @default.
- W4200435252 doi "https://doi.org/10.1002/ski2.82" @default.
- W4200435252 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35665211" @default.
- W4200435252 hasPublicationYear "2021" @default.
- W4200435252 type Work @default.
- W4200435252 citedByCount "2" @default.
- W4200435252 countsByYear W42004352522021 @default.
- W4200435252 countsByYear W42004352522023 @default.
- W4200435252 crossrefType "journal-article" @default.
- W4200435252 hasAuthorship W4200435252A5000608022 @default.
- W4200435252 hasAuthorship W4200435252A5018919685 @default.
- W4200435252 hasAuthorship W4200435252A5021207503 @default.
- W4200435252 hasAuthorship W4200435252A5021440455 @default.
- W4200435252 hasAuthorship W4200435252A5033351939 @default.
- W4200435252 hasAuthorship W4200435252A5045934217 @default.
- W4200435252 hasBestOaLocation W42004352522 @default.
- W4200435252 hasConcept C104317684 @default.
- W4200435252 hasConcept C10590036 @default.
- W4200435252 hasConcept C153911025 @default.
- W4200435252 hasConcept C16671776 @default.
- W4200435252 hasConcept C167672396 @default.
- W4200435252 hasConcept C203014093 @default.
- W4200435252 hasConcept C2776090121 @default.
- W4200435252 hasConcept C501734568 @default.
- W4200435252 hasConcept C54355233 @default.
- W4200435252 hasConcept C553184892 @default.
- W4200435252 hasConcept C76818968 @default.
- W4200435252 hasConcept C86803240 @default.
- W4200435252 hasConcept C8891405 @default.
- W4200435252 hasConceptScore W4200435252C104317684 @default.
- W4200435252 hasConceptScore W4200435252C10590036 @default.
- W4200435252 hasConceptScore W4200435252C153911025 @default.
- W4200435252 hasConceptScore W4200435252C16671776 @default.
- W4200435252 hasConceptScore W4200435252C167672396 @default.
- W4200435252 hasConceptScore W4200435252C203014093 @default.
- W4200435252 hasConceptScore W4200435252C2776090121 @default.
- W4200435252 hasConceptScore W4200435252C501734568 @default.
- W4200435252 hasConceptScore W4200435252C54355233 @default.
- W4200435252 hasConceptScore W4200435252C553184892 @default.
- W4200435252 hasConceptScore W4200435252C76818968 @default.
- W4200435252 hasConceptScore W4200435252C86803240 @default.
- W4200435252 hasConceptScore W4200435252C8891405 @default.
- W4200435252 hasFunder F4320321001 @default.
- W4200435252 hasIssue "1" @default.
- W4200435252 hasLocation W42004352521 @default.
- W4200435252 hasLocation W42004352522 @default.
- W4200435252 hasLocation W42004352523 @default.
- W4200435252 hasOpenAccess W4200435252 @default.
- W4200435252 hasPrimaryLocation W42004352521 @default.
- W4200435252 hasRelatedWork W2041066325 @default.
- W4200435252 hasRelatedWork W2062446363 @default.
- W4200435252 hasRelatedWork W2463408228 @default.
- W4200435252 hasRelatedWork W2514251678 @default.
- W4200435252 hasRelatedWork W2735588156 @default.
- W4200435252 hasRelatedWork W2970896032 @default.
- W4200435252 hasRelatedWork W2975723627 @default.
- W4200435252 hasRelatedWork W2992125635 @default.
- W4200435252 hasRelatedWork W3014561160 @default.
- W4200435252 hasRelatedWork W4291169681 @default.
- W4200435252 hasVolume "2" @default.
- W4200435252 isParatext "false" @default.
- W4200435252 isRetracted "false" @default.
- W4200435252 workType "article" @default.