Observational studyScience immunology2021
Heterozygous
Open access · greenAbstract readObservational Study
In one paragraph
Observational study in Science immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
4.0field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 68 citations in OpenAlex.
- Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).The Journal of experimental medicine · 2026Article
- Stalled translation on transcripts cleaved by RNase L activates signaling important for innate immunity.RNA (New York, N.Y.) · 2026Article
- The OAS-RNase L pathway: Insights from experiments of nature.Science immunology · 2026Review
- The expression signature, prognostic significance and immune cell infiltration of the OAS gene family in gastric cancer.Scientific reports · 2025Article
- Identification of Potential Therapeutic Agents for Type I Interferonopathy Using iPSC-Based Disease Modeling.Journal of clinical immunology · 2025Article
- Allogeneic hematopoietic cell transplantation for autoinflammatory disorders.International journal of hematology · 2025Review
- Systematic Identification of Mitochondrial Signatures in Alzheimer's Disease and Inflammatory Bowel Disease.Molecular neurobiology · 2025Article
- Elucidating Regulatory Mechanisms of Genes Involved in Pathobiology of Sjögren's Disease: Immunostimulation Using a Cell Culture Model.International journal of molecular sciences · 2025Article
- Stalled translation on transcripts cleaved by RNase L activates signaling important for innate immunity.bioRxiv : the preprint server for biology · 2025Article
- Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant.Pediatric pulmonology · 2025Article
- Cell-Autonomous Immunity: From Cytosolic Sensing to Self-Defense.International journal of molecular sciences · 2025Review
- OAS cross-activates RNase L intercellularly through cell-to-cell transfer of 2-5A to spread innate immunity.Immunity · 2025Article
- An update on diagnosis and treatments of childhood interstitial lung diseases.Breathe (Sheffield, England) · 2025Review
- Prognostic value and molecular mechanisms of OAS1 in lung adenocarcinoma.BMC pulmonary medicine · 2024Article
- RNA helicase SKIV2L limits antiviral defense and autoinflammation elicited by the OAS-RNase L pathway.The EMBO journal · 2024Article
- Clinical and research innovations in childhood interstitial lung disease (chILD).Pediatric pulmonology · 2024Article
- New discoveries in the genetics and genomics of systemic juvenile idiopathic arthritis.Expert review of clinical immunology · 2024Review
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Endonucleolytic RNA cleavage drives changes in gene expression during the innate immune response.Cell reports · 2024Article
- Cellular models in autoinflammatory disease research.Clinical & translational immunology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 11 institutions in 5 countries.
Thomas MaggDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0003-0158-7790
Tsubasa OkanoDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.ORCID 0000-0001-6769-7402
Lars M KoenigDivision of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0002-8348-7787
Daniel F R BoehmerDivision of Clinical Pharmacology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0001-7017-1209
Samantha L SchwartzDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.ORCID 0000-0002-3378-0184
Kento InoueDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Jennifer HeimallDepartment of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-7939-5102
Francesco LicciardiDepartment of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.
Julia Ley-ZaporozhanDepartment of Radiology, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0003-1940-1034
Ronald M FerdmanDivision of Clinical Immunology and Allergy, Children's Hospital Los Angeles, Los Angeles, CA, USA.ORCID 0000-0001-5744-0427
Andrés Caballero-OteyzaCentre for Chronic Immunodeficiency (CCI) and Institute for Immunodeficiency (IFI), University Hospital Freiburg, Freiburg, Germany.ORCID 0000-0002-8892-1255
Esther N ParkDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.
Brenda M CalderonDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.ORCID 0000-0003-1130-0386
Debayan DeyDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.ORCID 0000-0002-0222-6092
Hirokazu KaneganeDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.ORCID 0000-0002-8696-9378
Kazutoshi ChoMaternity and Perinatal Care Center, Hokkaido University Hospital, Hokkaido, Japan.ORCID 0000-0003-2742-4084
Davide MontinDepartment of Pediatric and Public Health Sciences, University of Torino, Regina Margherita Children's Hospital, AOU Città della Salute e della Scienza di Torino, Turin, Italy.ORCID 0000-0001-8953-2182
Karl ReiterDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0003-1049-6655
Matthias GrieseDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0003-0113-912X
Michael H AlbertDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.ORCID 0000-0001-9143-3263
Meino RohlfsDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Paul GrayDepartment of Immunology and Infectious Disease, Sydney Children's Hospital, Sydney, NSW, Australia.
Christoph WalzInstitute of Pathology, Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.
Graeme L ConnDepartment of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA.ORCID 0000-0002-2419-380X
Kathleen E SullivanDepartment of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Christoph KleinDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Tomohiro MorioDepartment of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan. tmorio.ped@tmd.ac.jp fabian.hauck@med.uni-muenchen.de.ORCID 0000-0002-9259-1025
Fabian HauckDepartment of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany. tmorio.ped@tmd.ac.jp fabian.hauck@med.uni-muenchen.de.ORCID 0000-0001-9644-2003
Ludwig-Maximilians-Universität München · DEEmory University · USTokyo Medical and Dental University · JPAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITChildren's Hospital of Philadelphia · USGerman Center for Infection Research · DEChildren's Hospital of Los Angeles · USGerman Center for Lung Research · DEHokkaido University Hospital · JPSydney Children's Hospital · AUUniversity Medical Center Freiburg · DE
Funding
Training Program in Biochemistry, Cell and Molecular BiologyT32GM008367 · NIGMS · EMORY UNIVERSITY · PI BOISE, LAWRENCE H., CORBETT, ANITA H. · 1990 to 2019
$5.6MdsRNA regulation of the cytosolic innate immune systemR01AI144067 · NIAID · EMORY UNIVERSITY · PI Graeme L Conn · 2019 to 2026
$3.4MRegulation of 2'-5'-oligoadenylate synthetase 1 (OAS1) by dsRNAF31AI133950 · NIAID · EMORY UNIVERSITY · PI SCHWARTZ, SAMANTHA LYNNE · 2017 to 2019
$134kNIAID NIH HHS F31 AI133950NIAID NIH HHS R01 AI144067NIGMS NIH HHS T32 GM008367
Abstract
Analysis of autoinflammatory and immunodeficiency disorders elucidates human immunity and fosters the development of targeted therapies. Oligoadenylate synthetase 1 is a type I interferon-induced, intracellular double-stranded RNA (dsRNA) sensor that generates 2'-5'-oligoadenylate to activate ribonuclease L (RNase L) as a means of antiviral defense. We identified four de novo heterozygous
Indexed as
2',5'-Oligoadenylate SynthetaseB-LymphocytesCells, CulturedDNA Mutational AnalysisEndoribonucleasesEnzyme AssaysGain of Function MutationGene Knockout TechniquesHematopoietic Stem Cell TransplantationHereditary Autoinflammatory DiseasesHeterozygoteHumansInfantInfant, NewbornInterferon Type IMacrophages2-5A-dependent ribonuclease2',5'-Oligoadenylate SynthetaseEndoribonucleasesInterferon Type IOAS1 protein, humanRecombinant Proteins
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.