Matches in SemOpenAlex for { <https://semopenalex.org/work/W1844353938> ?p ?o ?g. }
- W1844353938 endingPage "1196" @default.
- W1844353938 startingPage "1185" @default.
- W1844353938 abstract "The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1), distinguished by multi-organ autoimmunity. We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later onset, milder phenotypes, and reduced penetrance compared to classical APS-1. These missense PHD1 mutations suppressed gene expression driven by wild-type AIRE in a dominant-negative manner, unlike CARD or truncated AIRE mutants that lacked such dominant capacity. Exome array analysis revealed that the PHD1 dominant mutants were found with relatively high frequency (>0.0008) in mixed populations. Our results provide insight into the molecular action of AIRE and demonstrate that disease-causing mutations in the AIRE locus are more common than previously appreciated and cause more variable autoimmune phenotypes." @default.
- W1844353938 created "2016-06-24" @default.
- W1844353938 creator A5003476861 @default.
- W1844353938 creator A5003486876 @default.
- W1844353938 creator A5004923664 @default.
- W1844353938 creator A5005064182 @default.
- W1844353938 creator A5007181325 @default.
- W1844353938 creator A5017198064 @default.
- W1844353938 creator A5021148250 @default.
- W1844353938 creator A5030150193 @default.
- W1844353938 creator A5031712050 @default.
- W1844353938 creator A5031768744 @default.
- W1844353938 creator A5041637399 @default.
- W1844353938 creator A5055442295 @default.
- W1844353938 creator A5058411501 @default.
- W1844353938 creator A5060877182 @default.
- W1844353938 creator A5063328060 @default.
- W1844353938 creator A5063671814 @default.
- W1844353938 creator A5065413991 @default.
- W1844353938 creator A5068515379 @default.
- W1844353938 creator A5074121579 @default.
- W1844353938 creator A5075608718 @default.
- W1844353938 creator A5075849875 @default.
- W1844353938 creator A5076072531 @default.
- W1844353938 creator A5078133264 @default.
- W1844353938 creator A5084732202 @default.
- W1844353938 creator A5088265023 @default.
- W1844353938 date "2015-06-01" @default.
- W1844353938 modified "2023-10-18" @default.
- W1844353938 title "Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases" @default.
- W1844353938 cites W1958394139 @default.
- W1844353938 cites W1984340759 @default.
- W1844353938 cites W1999469137 @default.
- W1844353938 cites W2002454847 @default.
- W1844353938 cites W2011254270 @default.
- W1844353938 cites W2012823936 @default.
- W1844353938 cites W2013987979 @default.
- W1844353938 cites W2016375374 @default.
- W1844353938 cites W2023073368 @default.
- W1844353938 cites W2025929993 @default.
- W1844353938 cites W2027240299 @default.
- W1844353938 cites W2029021429 @default.
- W1844353938 cites W2033441651 @default.
- W1844353938 cites W2034402052 @default.
- W1844353938 cites W2034881116 @default.
- W1844353938 cites W2048548715 @default.
- W1844353938 cites W2049629794 @default.
- W1844353938 cites W2051346727 @default.
- W1844353938 cites W2055745336 @default.
- W1844353938 cites W2062269500 @default.
- W1844353938 cites W2063733110 @default.
- W1844353938 cites W2064407069 @default.
- W1844353938 cites W2065446100 @default.
- W1844353938 cites W2080038108 @default.
- W1844353938 cites W2081255498 @default.
- W1844353938 cites W2081281234 @default.
- W1844353938 cites W2085567045 @default.
- W1844353938 cites W2086675373 @default.
- W1844353938 cites W2089482935 @default.
- W1844353938 cites W2094880341 @default.
- W1844353938 cites W2097289995 @default.
- W1844353938 cites W2106850730 @default.
- W1844353938 cites W2114944802 @default.
- W1844353938 cites W2135257181 @default.
- W1844353938 cites W2139771438 @default.
- W1844353938 cites W2157459523 @default.
- W1844353938 cites W2157582906 @default.
- W1844353938 cites W2167249822 @default.
- W1844353938 cites W2170947255 @default.
- W1844353938 cites W2331919277 @default.
- W1844353938 doi "https://doi.org/10.1016/j.immuni.2015.04.021" @default.
- W1844353938 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26084028" @default.
- W1844353938 hasPublicationYear "2015" @default.
- W1844353938 type Work @default.
- W1844353938 sameAs 1844353938 @default.
- W1844353938 citedByCount "195" @default.
- W1844353938 countsByYear W18443539382015 @default.
- W1844353938 countsByYear W18443539382016 @default.
- W1844353938 countsByYear W18443539382017 @default.
- W1844353938 countsByYear W18443539382018 @default.
- W1844353938 countsByYear W18443539382019 @default.
- W1844353938 countsByYear W18443539382020 @default.
- W1844353938 countsByYear W18443539382021 @default.
- W1844353938 countsByYear W18443539382022 @default.
- W1844353938 countsByYear W18443539382023 @default.
- W1844353938 crossrefType "journal-article" @default.
- W1844353938 hasAuthorship W1844353938A5003476861 @default.
- W1844353938 hasAuthorship W1844353938A5003486876 @default.
- W1844353938 hasAuthorship W1844353938A5004923664 @default.
- W1844353938 hasAuthorship W1844353938A5005064182 @default.
- W1844353938 hasAuthorship W1844353938A5007181325 @default.
- W1844353938 hasAuthorship W1844353938A5017198064 @default.
- W1844353938 hasAuthorship W1844353938A5021148250 @default.
- W1844353938 hasAuthorship W1844353938A5030150193 @default.
- W1844353938 hasAuthorship W1844353938A5031712050 @default.
- W1844353938 hasAuthorship W1844353938A5031768744 @default.
- W1844353938 hasAuthorship W1844353938A5041637399 @default.
- W1844353938 hasAuthorship W1844353938A5055442295 @default.