FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385156651> ?p ?o ?g. }

• W4385156651 abstract "The p.E148Q variant in pyrin is present in different populations at a frequency up to 29%, and has been associated with diseases including vasculitis and familial Mediterranean fever (FMF). The pathogenicity of p.E148Q in FMF is unclear, even when observed in cis or in trans to a single, typically recessive, mutation. We performed functional validation to determine whether p.E148Q increases the ability of pyrin to form an active inflammasome complex in cell lines.We interrogated the Australian Autoinflammatory Disease RegistrY (AADRY) to find candidate inheritance patterns for the p.E148Q variant in pyrin. Different pyrin variant combinations were tested in HEK293T cells stably expressing the adaptor protein apoptosis-associated speck-like (ASC) which were analysed by flow cytometry to visualise inflammasome formation, with and without stimulation by Clostridioides difficile toxin B (TcdB). Inflammasome dependent cytokine secretion was also quantified by ELISA of supernatants from THP-1 cells transduced with lentiviral expression vectors.In AADRY, we observed the p.E148Q allele in individuals with autoinflammatory diseases alone or in conjunction with other pyrin variants. Two FMF families harbored the allele p.E148Q-M694I in cis with dominant heritability. In vitro, p.E148Q pyrin could spontaneously potentiate inflammasome formation, with increased IL-1β and IL-18 secretion. p.E148Q in cis to classical FMF mutations provided significant potentiation of inflammasome formation.The p.E148Q variant in pyrin potentiates inflammasome activation in vitro. In cis, this effect is additive to known pathogenic FMF mutations. In some families, this increased effect could explain why FMF segregates as an apparently dominant disease." @default.
• W4385156651 created "2023-07-24" @default.
• W4385156651 creator A5004778423 @default.
• W4385156651 creator A5009670407 @default.
• W4385156651 creator A5011805647 @default.
• W4385156651 creator A5014318207 @default.
• W4385156651 creator A5017924520 @default.
• W4385156651 creator A5037514865 @default.
• W4385156651 creator A5039753508 @default.
• W4385156651 date "2023-07-22" @default.
• W4385156651 modified "2023-10-13" @default.
• W4385156651 title "Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in <i>cis</i>" @default.
• W4385156651 cites W1994705699 @default.
• W4385156651 cites W2013497239 @default.
• W4385156651 cites W2013908591 @default.
• W4385156651 cites W2017851980 @default.
• W4385156651 cites W2022318748 @default.
• W4385156651 cites W2033698154 @default.
• W4385156651 cites W2042876770 @default.
• W4385156651 cites W2045648170 @default.
• W4385156651 cites W2055147851 @default.
• W4385156651 cites W2070241951 @default.
• W4385156651 cites W2080667972 @default.
• W4385156651 cites W2089431467 @default.
• W4385156651 cites W2092168339 @default.
• W4385156651 cites W2093890452 @default.
• W4385156651 cites W2110105853 @default.
• W4385156651 cites W2120118104 @default.
• W4385156651 cites W2122605756 @default.
• W4385156651 cites W2137337213 @default.
• W4385156651 cites W2157201603 @default.
• W4385156651 cites W2167353300 @default.
• W4385156651 cites W2324425986 @default.
• W4385156651 cites W2418840180 @default.
• W4385156651 cites W2470985892 @default.
• W4385156651 cites W2494920565 @default.
• W4385156651 cites W2543073749 @default.
• W4385156651 cites W2560182347 @default.
• W4385156651 cites W2615194403 @default.
• W4385156651 cites W2728599719 @default.
• W4385156651 cites W2748876195 @default.
• W4385156651 cites W2767086200 @default.
• W4385156651 cites W2769059387 @default.
• W4385156651 cites W2784448875 @default.
• W4385156651 cites W2804866854 @default.
• W4385156651 cites W2913109339 @default.
• W4385156651 cites W2958980900 @default.
• W4385156651 cites W2964381395 @default.
• W4385156651 cites W2976435455 @default.
• W4385156651 cites W3036643861 @default.
• W4385156651 cites W3038065835 @default.
• W4385156651 cites W3046867445 @default.
• W4385156651 cites W3139126724 @default.
• W4385156651 cites W3192824294 @default.
• W4385156651 cites W3205008568 @default.
• W4385156651 cites W3214285552 @default.
• W4385156651 cites W4225107307 @default.
• W4385156651 cites W4309107100 @default.
• W4385156651 doi "https://doi.org/10.1093/rheumatology/kead376" @default.
• W4385156651 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37481715" @default.
• W4385156651 hasPublicationYear "2023" @default.
• W4385156651 type Work @default.
• W4385156651 citedByCount "0" @default.
• W4385156651 crossrefType "journal-article" @default.
• W4385156651 hasAuthorship W4385156651A5004778423 @default.
• W4385156651 hasAuthorship W4385156651A5009670407 @default.
• W4385156651 hasAuthorship W4385156651A5011805647 @default.
• W4385156651 hasAuthorship W4385156651A5014318207 @default.
• W4385156651 hasAuthorship W4385156651A5017924520 @default.
• W4385156651 hasAuthorship W4385156651A5037514865 @default.
• W4385156651 hasAuthorship W4385156651A5039753508 @default.
• W4385156651 hasConcept C104317684 @default.
• W4385156651 hasConcept C126322002 @default.
• W4385156651 hasConcept C139174496 @default.
• W4385156651 hasConcept C162157009 @default.
• W4385156651 hasConcept C203014093 @default.
• W4385156651 hasConcept C2776914184 @default.
• W4385156651 hasConcept C2777209026 @default.
• W4385156651 hasConcept C2779134260 @default.
• W4385156651 hasConcept C2779537928 @default.
• W4385156651 hasConcept C2781145326 @default.
• W4385156651 hasConcept C2994225774 @default.
• W4385156651 hasConcept C501734568 @default.
• W4385156651 hasConcept C54355233 @default.
• W4385156651 hasConcept C71924100 @default.
• W4385156651 hasConcept C86803240 @default.
• W4385156651 hasConceptScore W4385156651C104317684 @default.
• W4385156651 hasConceptScore W4385156651C126322002 @default.
• W4385156651 hasConceptScore W4385156651C139174496 @default.
• W4385156651 hasConceptScore W4385156651C162157009 @default.
• W4385156651 hasConceptScore W4385156651C203014093 @default.
• W4385156651 hasConceptScore W4385156651C2776914184 @default.
• W4385156651 hasConceptScore W4385156651C2777209026 @default.
• W4385156651 hasConceptScore W4385156651C2779134260 @default.
• W4385156651 hasConceptScore W4385156651C2779537928 @default.
• W4385156651 hasConceptScore W4385156651C2781145326 @default.
• W4385156651 hasConceptScore W4385156651C2994225774 @default.
• W4385156651 hasConceptScore W4385156651C501734568 @default.
• W4385156651 hasConceptScore W4385156651C54355233 @default.
• W4385156651 hasConceptScore W4385156651C71924100 @default.

• next