FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386034220> ?p ?o ?g. }

• W4386034220 endingPage "113018" @default.
• W4386034220 startingPage "113018" @default.
• W4386034220 abstract "Mutations of the transcription factor FoxP3 in patients with “IPEX” (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) disrupt regulatory T cells (Treg), causing an array of multiorgan autoimmunity. To understand the functional impact of mutations across FoxP3 domains, without genetic and environmental confounders, six human FOXP3 missense mutations are engineered into mice. Two classes of mutations emerge from combined immunologic and genomic analyses. A mutation in the DNA-binding domain shows the same lymphoproliferation and multiorgan infiltration as complete FoxP3 knockouts but delayed by months. Tregs expressing this mutant FoxP3 are destabilized by normal Tregs in heterozygous females compared with hemizygous males. Mutations in other domains affect chromatin opening differently, involving different cofactors and provoking more specific autoimmune pathology (dermatitis, colitis, diabetes), unmasked by immunological challenges or incrossing NOD autoimmune-susceptibility alleles. This work establishes that IPEX disease heterogeneity results from the actual mutations, combined with genetic and environmental perturbations, explaining then the intra-familial variation in IPEX." @default.
• W4386034220 created "2023-08-22" @default.
• W4386034220 creator A5012367064 @default.
• W4386034220 creator A5025806765 @default.
• W4386034220 creator A5040731525 @default.
• W4386034220 creator A5063082125 @default.
• W4386034220 creator A5078237329 @default.
• W4386034220 creator A5085352215 @default.
• W4386034220 creator A5088620852 @default.
• W4386034220 creator A5091637309 @default.
• W4386034220 date "2023-08-01" @default.
• W4386034220 modified "2023-10-13" @default.
• W4386034220 title "Mutations from patients with IPEX ported to mice reveal different patterns of FoxP3 and Treg dysfunction" @default.
• W4386034220 cites W1499151513 @default.
• W4386034220 cites W1576688622 @default.
• W4386034220 cites W1596258860 @default.
• W4386034220 cites W1963832008 @default.
• W4386034220 cites W1966073503 @default.
• W4386034220 cites W1966289025 @default.
• W4386034220 cites W1967351618 @default.
• W4386034220 cites W1973750557 @default.
• W4386034220 cites W1975322648 @default.
• W4386034220 cites W1977165060 @default.
• W4386034220 cites W1982995354 @default.
• W4386034220 cites W1983812780 @default.
• W4386034220 cites W1997796758 @default.
• W4386034220 cites W1998157143 @default.
• W4386034220 cites W2007955797 @default.
• W4386034220 cites W2015587858 @default.
• W4386034220 cites W2021341670 @default.
• W4386034220 cites W2024691638 @default.
• W4386034220 cites W2028176002 @default.
• W4386034220 cites W2030098309 @default.
• W4386034220 cites W2033330275 @default.
• W4386034220 cites W2034621048 @default.
• W4386034220 cites W2046318425 @default.
• W4386034220 cites W2054281806 @default.
• W4386034220 cites W2054891189 @default.
• W4386034220 cites W2063582896 @default.
• W4386034220 cites W2063779547 @default.
• W4386034220 cites W2066626286 @default.
• W4386034220 cites W2068560430 @default.
• W4386034220 cites W2076905634 @default.
• W4386034220 cites W2081698746 @default.
• W4386034220 cites W2083187711 @default.
• W4386034220 cites W2089313271 @default.
• W4386034220 cites W2092987197 @default.
• W4386034220 cites W2095671247 @default.
• W4386034220 cites W2098698378 @default.
• W4386034220 cites W2102258628 @default.
• W4386034220 cites W2105630018 @default.
• W4386034220 cites W2108270409 @default.
• W4386034220 cites W2116015828 @default.
• W4386034220 cites W2128882575 @default.
• W4386034220 cites W2134591209 @default.
• W4386034220 cites W2141649011 @default.
• W4386034220 cites W2143889757 @default.
• W4386034220 cites W2149915530 @default.
• W4386034220 cites W2151487189 @default.
• W4386034220 cites W2155779547 @default.
• W4386034220 cites W2158715209 @default.
• W4386034220 cites W2162614677 @default.
• W4386034220 cites W2166725781 @default.
• W4386034220 cites W2169593537 @default.
• W4386034220 cites W2202439768 @default.
• W4386034220 cites W2341539131 @default.
• W4386034220 cites W2413120656 @default.
• W4386034220 cites W2605741026 @default.
• W4386034220 cites W2737785069 @default.
• W4386034220 cites W2739492614 @default.
• W4386034220 cites W2739736711 @default.
• W4386034220 cites W2750049634 @default.
• W4386034220 cites W2754312097 @default.
• W4386034220 cites W2774825032 @default.
• W4386034220 cites W2775481165 @default.
• W4386034220 cites W2778576356 @default.
• W4386034220 cites W2793411374 @default.
• W4386034220 cites W2887910040 @default.
• W4386034220 cites W2898668831 @default.
• W4386034220 cites W2899249889 @default.
• W4386034220 cites W2911510951 @default.
• W4386034220 cites W2912786047 @default.
• W4386034220 cites W2949177718 @default.
• W4386034220 cites W2966678440 @default.
• W4386034220 cites W3024931214 @default.
• W4386034220 cites W3034038263 @default.
• W4386034220 cites W3084067040 @default.
• W4386034220 cites W3100295827 @default.
• W4386034220 cites W3131634425 @default.
• W4386034220 cites W3143217958 @default.
• W4386034220 cites W3145635506 @default.
• W4386034220 cites W3164692211 @default.
• W4386034220 cites W3164839005 @default.
• W4386034220 cites W3210860076 @default.
• W4386034220 cites W3216461242 @default.
• W4386034220 cites W4220772237 @default.
• W4386034220 cites W4282557363 @default.
• W4386034220 cites W4289688738 @default.

• next