Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313381830> ?p ?o ?g. }
Showing items 1 to 78 of
78
with 100 items per page.
- W4313381830 endingPage "166.17" @default.
- W4313381830 startingPage "166.17" @default.
- W4313381830 abstract "Abstract 2′-5′-oligoadenylate synthase 1 (OAS1) is one of the interferon-stimulated genes (ISG) which plays a critical role in innate anti-viral immunity. Stimulated by viral double strand RNA (dsRNA), OAS1 produces 2′-5′ linked oligomer of adenylates (2′-5′A) and the produced 2′-5′A activates ribonuclease-L (RNase-L) which results in degradation of viral RNA and inhibition of viral replications. We identified autosomal inherited OAS1 missense mutations in three Japanese pedigrees with infantile-onset primary alveolar proteinosis with hypogammaglobulinemia. Patients’ peripheral blood monocytes and CD11c+ myeloid dendritic cells (mDC) were progressively decreased; CD27+ memory B cells were lacking. The alveolar macrophages showed decreased phagocytosis activity; and the enlarged and foamy form was scarcely observed, which were typical in conventional pulmonary alveolar proteinosis (PAP). Their bone marrow monocyte progenitors were decreased and showed reduced colony forming potentials. One of the patients is currently alive without PAP after hematopoietic stem cell transplantation. The recombinant mutant OAS1 protein had unaltered dsRNA binding activity. Patient-derived lymphoblastoid cell lines showed normal expression of OAS1 protein and mRNA, and unaltered function in OAS1 - RNase-L pathway. We generated model OAS1 knock-in mice by CRISPR/Cas9 based gene editing and analyzed immune-phenotypes. The mice show normal B and DC numbers and normal serum immunoglobulin levels so far. Detailed functional study on mutant OAS1 protein with the multi-Omics approach is currently underway." @default.
- W4313381830 created "2023-01-06" @default.
- W4313381830 creator A5001124321 @default.
- W4313381830 creator A5029680324 @default.
- W4313381830 creator A5032163283 @default.
- W4313381830 creator A5032337640 @default.
- W4313381830 creator A5032378106 @default.
- W4313381830 creator A5032944606 @default.
- W4313381830 creator A5035825514 @default.
- W4313381830 creator A5038362821 @default.
- W4313381830 creator A5040707258 @default.
- W4313381830 creator A5059569764 @default.
- W4313381830 creator A5069805233 @default.
- W4313381830 creator A5075597870 @default.
- W4313381830 creator A5086104727 @default.
- W4313381830 date "2018-05-01" @default.
- W4313381830 modified "2023-10-16" @default.
- W4313381830 title "Infantile-onset primary alveolar proteinosis with hypogammaglobulinemia caused by heterozygous mutations of 2′-5′-oligoadenylate synthase 1" @default.
- W4313381830 doi "https://doi.org/10.4049/jimmunol.200.supp.166.17" @default.
- W4313381830 hasPublicationYear "2018" @default.
- W4313381830 type Work @default.
- W4313381830 citedByCount "0" @default.
- W4313381830 crossrefType "journal-article" @default.
- W4313381830 hasAuthorship W4313381830A5001124321 @default.
- W4313381830 hasAuthorship W4313381830A5029680324 @default.
- W4313381830 hasAuthorship W4313381830A5032163283 @default.
- W4313381830 hasAuthorship W4313381830A5032337640 @default.
- W4313381830 hasAuthorship W4313381830A5032378106 @default.
- W4313381830 hasAuthorship W4313381830A5032944606 @default.
- W4313381830 hasAuthorship W4313381830A5035825514 @default.
- W4313381830 hasAuthorship W4313381830A5038362821 @default.
- W4313381830 hasAuthorship W4313381830A5040707258 @default.
- W4313381830 hasAuthorship W4313381830A5059569764 @default.
- W4313381830 hasAuthorship W4313381830A5069805233 @default.
- W4313381830 hasAuthorship W4313381830A5075597870 @default.
- W4313381830 hasAuthorship W4313381830A5086104727 @default.
- W4313381830 hasConcept C126322002 @default.
- W4313381830 hasConcept C153911025 @default.
- W4313381830 hasConcept C159654299 @default.
- W4313381830 hasConcept C203014093 @default.
- W4313381830 hasConcept C2777714996 @default.
- W4313381830 hasConcept C2777805810 @default.
- W4313381830 hasConcept C2778972612 @default.
- W4313381830 hasConcept C2779019163 @default.
- W4313381830 hasConcept C71924100 @default.
- W4313381830 hasConcept C86803240 @default.
- W4313381830 hasConcept C8891405 @default.
- W4313381830 hasConceptScore W4313381830C126322002 @default.
- W4313381830 hasConceptScore W4313381830C153911025 @default.
- W4313381830 hasConceptScore W4313381830C159654299 @default.
- W4313381830 hasConceptScore W4313381830C203014093 @default.
- W4313381830 hasConceptScore W4313381830C2777714996 @default.
- W4313381830 hasConceptScore W4313381830C2777805810 @default.
- W4313381830 hasConceptScore W4313381830C2778972612 @default.
- W4313381830 hasConceptScore W4313381830C2779019163 @default.
- W4313381830 hasConceptScore W4313381830C71924100 @default.
- W4313381830 hasConceptScore W4313381830C86803240 @default.
- W4313381830 hasConceptScore W4313381830C8891405 @default.
- W4313381830 hasIssue "1_Supplement" @default.
- W4313381830 hasLocation W43133818301 @default.
- W4313381830 hasOpenAccess W4313381830 @default.
- W4313381830 hasPrimaryLocation W43133818301 @default.
- W4313381830 hasRelatedWork W1501814168 @default.
- W4313381830 hasRelatedWork W174827180 @default.
- W4313381830 hasRelatedWork W1907388817 @default.
- W4313381830 hasRelatedWork W2070219675 @default.
- W4313381830 hasRelatedWork W2165051502 @default.
- W4313381830 hasRelatedWork W2768338715 @default.
- W4313381830 hasRelatedWork W3015524975 @default.
- W4313381830 hasRelatedWork W3125992480 @default.
- W4313381830 hasRelatedWork W3205340334 @default.
- W4313381830 hasRelatedWork W2264373215 @default.
- W4313381830 hasVolume "200" @default.
- W4313381830 isParatext "false" @default.
- W4313381830 isRetracted "false" @default.
- W4313381830 workType "article" @default.