FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912984363> ?p ?o ?g. }

• W2912984363 endingPage "18" @default.
• W2912984363 startingPage "11" @default.
• W2912984363 abstract "Inborn errors of immunity usually not only result in immunodeficiency but may also manifest as immune dysregulation in the form of autoinflammation, autoimmunity, or sometimes malignancy. One of the most recently discovered monogenic disorder of immune dysregulation is COPA syndrome. COPA syndrome is an inherited autoimmune disorder caused by mutations in COPA gene. COPA gene encodes for α subunit of the COP1 protein, which is involved in the reverse vesicular protein transport from Golgi apparatus to the endoplasmic reticulum (ER). The inheritance pattern of COPA syndrome is autosomal dominant, and the patients typically present with interstitial lung disease with pulmonary hemorrhage and subsequently develop arthritis. Immunological features involve autoantibody formation, elevated expression of IL-1β and IL-6, and increase in the number of Th17 cells. Molecular pathophysiology of COPA syndrome is not clearly understood. However, it is known that accumulation of unfolded proteins in ER leads to ER stress, which is an indirect result of aberrant vesicular transport of proteins from Golgi apparatus to ER and defective cellular autophagy. ER stress induces inflammation and is responsible for pathogenesis of a large number of chronic inflammatory diseases. Unfolded protein response process responds to improperly folded proteins and defends against stress in ER to ensure the fidelity of the protein folding. It maintains the expression of stress-response genes and causes initiation of inflammatory signaling pathways essential for the innate immunity. Mutation in COPA gene associated with defective protein sorting to ER has unearthed a new primary immunodeficiency disease with a unique clinical phenotype. This review highlights the clinical and molecular aspects of COPA syndrome." @default.
• W2912984363 created "2019-02-21" @default.
• W2912984363 creator A5001265682 @default.
• W2912984363 creator A5006220483 @default.
• W2912984363 creator A5040189077 @default.
• W2912984363 creator A5062619953 @default.
• W2912984363 creator A5086217092 @default.
• W2912984363 date "2019-02-01" @default.
• W2912984363 modified "2023-10-01" @default.
• W2912984363 title "<p>Genetics of COPA syndrome</p>" @default.
• W2912984363 cites W1533548496 @default.
• W2912984363 cites W1546139069 @default.
• W2912984363 cites W1966408457 @default.
• W2912984363 cites W1967992419 @default.
• W2912984363 cites W1973046803 @default.
• W2912984363 cites W1987177419 @default.
• W2912984363 cites W2000054651 @default.
• W2912984363 cites W2000378313 @default.
• W2912984363 cites W2001712980 @default.
• W2912984363 cites W2002439304 @default.
• W2912984363 cites W2010998307 @default.
• W2912984363 cites W2015310325 @default.
• W2912984363 cites W2019192392 @default.
• W2912984363 cites W2031735388 @default.
• W2912984363 cites W2042173490 @default.
• W2912984363 cites W2047677831 @default.
• W2912984363 cites W2048551040 @default.
• W2912984363 cites W2048730115 @default.
• W2912984363 cites W2059058890 @default.
• W2912984363 cites W2059586921 @default.
• W2912984363 cites W2066538173 @default.
• W2912984363 cites W2072335655 @default.
• W2912984363 cites W2078144003 @default.
• W2912984363 cites W2078540517 @default.
• W2912984363 cites W2082418684 @default.
• W2912984363 cites W2086907495 @default.
• W2912984363 cites W2089198803 @default.
• W2912984363 cites W2093265463 @default.
• W2912984363 cites W2099662390 @default.
• W2912984363 cites W2108651302 @default.
• W2912984363 cites W2112286580 @default.
• W2912984363 cites W2127684300 @default.
• W2912984363 cites W2133771702 @default.
• W2912984363 cites W2138014988 @default.
• W2912984363 cites W2153726837 @default.
• W2912984363 cites W2160258620 @default.
• W2912984363 cites W2162121911 @default.
• W2912984363 cites W2162695817 @default.
• W2912984363 cites W2162893658 @default.
• W2912984363 cites W2169267902 @default.
• W2912984363 cites W2170752133 @default.
• W2912984363 cites W2192080449 @default.
• W2912984363 cites W2335335753 @default.
• W2912984363 cites W2416747496 @default.
• W2912984363 cites W2492545900 @default.
• W2912984363 cites W2558494406 @default.
• W2912984363 cites W2618219849 @default.
• W2912984363 cites W2758023029 @default.
• W2912984363 cites W2764139712 @default.
• W2912984363 cites W2770704070 @default.
• W2912984363 cites W2794687539 @default.
• W2912984363 cites W2810336068 @default.
• W2912984363 cites W2899254998 @default.
• W2912984363 cites W2917335258 @default.
• W2912984363 cites W4254587402 @default.
• W2912984363 doi "https://doi.org/10.2147/tacg.s153600" @default.
• W2912984363 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6372856" @default.
• W2912984363 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30804679" @default.
• W2912984363 hasPublicationYear "2019" @default.
• W2912984363 type Work @default.
• W2912984363 sameAs 2912984363 @default.
• W2912984363 citedByCount "15" @default.
• W2912984363 countsByYear W29129843632019 @default.
• W2912984363 countsByYear W29129843632020 @default.
• W2912984363 countsByYear W29129843632021 @default.
• W2912984363 countsByYear W29129843632022 @default.
• W2912984363 countsByYear W29129843632023 @default.
• W2912984363 crossrefType "journal-article" @default.
• W2912984363 hasAuthorship W2912984363A5001265682 @default.
• W2912984363 hasAuthorship W2912984363A5006220483 @default.
• W2912984363 hasAuthorship W2912984363A5040189077 @default.
• W2912984363 hasAuthorship W2912984363A5062619953 @default.
• W2912984363 hasAuthorship W2912984363A5086217092 @default.
• W2912984363 hasBestOaLocation W29129843631 @default.
• W2912984363 hasConcept C104317684 @default.
• W2912984363 hasConcept C127716648 @default.
• W2912984363 hasConcept C136449434 @default.
• W2912984363 hasConcept C139447449 @default.
• W2912984363 hasConcept C158617107 @default.
• W2912984363 hasConcept C203014093 @default.
• W2912984363 hasConcept C2776914184 @default.
• W2912984363 hasConcept C2779019163 @default.
• W2912984363 hasConcept C2780130043 @default.
• W2912984363 hasConcept C2780194698 @default.
• W2912984363 hasConcept C54355233 @default.
• W2912984363 hasConcept C71924100 @default.
• W2912984363 hasConcept C86803240 @default.
• W2912984363 hasConcept C8891405 @default.

• next