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COPA syndrome caused by a novel p.Arg227Cys COPA gene variant
Molecular Genetics & Genomic Medicine, 2023 AbstractBackgroundCOPA syndrome is a recently described and rare monogenic autosomal dominant disease caused by heterozygous missense mutations in the Coatomer Protein Subunit alpha (COPA) gene that encodes the alpha subunit of coat protein complex I (COPI).
Yue Zheng +5 more
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Journal of Experimental Medicine, 2020 Two studies published in this issue of JEM, by Lepelley et al. (https://doi.org/10.1084/jem.20200600) and Deng et al. (https://doi.org/10.1084/jem.20201045), and two additional manuscripts by Mukai et al. (https://doi.org/10.1101/2020.05.20.107664 Preprint v1) and Steiner et al.
Sophie Rivara, Andrea Ablasser
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Targeting COPA to Enhance Erdafitinib Sensitivity in FGFR-Altered Bladder Cancer. [PDF]
Adv Sci (Weinh)Fibroblast growth factor receptor (FGFR) family aberrations are common in urothelial cancer. The FGFR tyrosine kinase inhibitor erdafitinib has been approved for locally advanced or metastatic urothelial cancer with FGFR2/3 alterations.
Zhao H +10 more
europepmc +2 more sources
Proceedings of the 27th ACM International Conference on Information and Knowledge Management, 2018 PARAFAC2 has demonstrated success in modeling irregular tensors, where the tensor dimensions vary across one of the modes. An example scenario is modeling treatments across a set of patients with the varying number of medical encounters over time. Despite recent improvements on unconstrained PARAFAC2, its model factors are usually dense and sensitive ...
Afshar, Ardavan +5 more
semanticscholar +7 more sources
The common HAQ STING allele prevents clinical penetrance of COPA syndrome. [PDF]
J Exp MedCOPA syndrome, an autosomal-dominant inborn error of immunity, is nonpenetrant in ∼20% of individuals, with no known mediators of protection. Recent studies implicate STING in the pathogenesis of COPA syndrome.
Simchoni N +17 more
europepmc +2 more sources
Post-Quantum Security of COPA [PDF]
EntropyCOPA is a notable authenticated online cipher and was one of the winning proposals for the CAESAR competition. Current works describe how to break the existentially unforgeable under quantum chosen message attack (EUF-qCMA) of COPA.
Ping Zhang, Yutao Wang
doaj +2 more sources
The CueR-regulated transporters CopA and CusFABC coordinate copper detoxification in Vibrio parahaemolyticus [PDF]
VirulenceVibrio parahaemolyticus is a zoonotic pathogen that poses a serious threat to shrimp aquaculture and public health worldwide. Copper (Cu) serves as a catalytic cofactor and structural element in bacteria but is toxic in excess. Herein, we report that the
Chengkun Zheng +7 more
doaj +2 more sources
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
The Journal of Clinical InvestigationMutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain
Selket Delafontaine +33 more
doaj +2 more sources
Interaction Between HAQ-STING Mutation and COPA: Protection Against COPA Syndrome. [PDF]
CureusCOPA syndrome is a rare autoinflammatory disorder caused by mutations in the COPA gene, leading to immune dysregulation and inflammatory pathology. The HAQ variant of stimulator of interferon genes (STING) allele has been identified as a protective factor against disease manifestation.
Lehrer S.
europepmc +3 more sources
The Application of Clinical Genetics, 2019 Rajni Kumrah, Babu Mathew, Pandiarajan Vignesh, Surjit Singh, Amit Rawat Pediatric Allergy and Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India Abstract: Inborn errors of ...
Kumrah R +4 more
doaj +3 more sources