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UnknownCOPA syndrome caused by a novel p.Arg227Cys COPA gene variant.
Not available
S-EPMC10767596 | biostudies-literature
UnknownCOPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
Not available
S-EPMC5686906 | biostudies-literature
TranscriptomicsCopa mutation activates STING and perturbs thymocyte development by increasing type I interferons in the thymus.
Pathogenic COPA variants cause a Mendelian syndrome of immune dysregulation with elevated type I interferon signaling. Given the importance of COPA in Golgi-ER transport, we speculated that type I interferon signaling in COPA syndrome involves missorting of STING. Here we show that a defect in COPI ...
ORGANISM(S): Mus musculus 
2020-07-07 | GSE153822 | GEO
UnknownCopa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.
Not available
S-EPMC4842120 | biostudies-literature
UnknownThe common HAQ STING allele prevents clinical penetrance of COPA syndrome.
Not available
S-EPMC11867111 | biostudies-literature
GenomicsCopa mutation activates STING and perturbs thymocyte development by increasing type I interferons in the thymus.
Copa mutation activates STING and perturbs thymocyte development by increasing type I interferons in the thymus.
PRJNA644287 | ENA
UnknownA defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome.
Not available
S-EPMC7596814 | biostudies-literature
UnknownExpanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
Not available
S-EPMC6860403 | biostudies-literature
UnknownA Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome.
Not available
S-EPMC7324259 | biostudies-literature
UnknownHeterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Not available
S-EPMC10866661 | biostudies-literature
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