Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.

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Li, He; Reksten, Tove Ragna; Ice, John A.; Kelly, Jennifer A.; Adrianto, Indra; Rasmussen, Astrid; Wang, Shaofeng; He, Bo; Grundahl, Kiely M.; Glenn, Stuart B.; Miceli-Richard, Corinne; Bowman, Simon; Lester, Sue; Eriksson, Per; Eloranta, Maija-Leena; Brun, Johan G.; Gøransson, Lasse G.; Harboe, Erna; Guthridge, Joel M.; Kaufman, Kenneth M.; Kvarnström, Marika; Cunninghame Graham, Deborah S.; Patel, Ketan; Adler, Adam J.; Farris, A. Darise; Brennan, Michael T.; Chodosh, James; Gopalakrishnan, Rajaram; Weisman, Michael H.; Venuturupalli, Swamy; ... view all 64 authors
(2017)
  • Publisher: Public Library of Science (PLoS)
  • Journal: PLoS Genetics,volume 13,issue 6,pagee1006820 (issn: 1553-7390, eissn: 1553-7404)
  • Publisher copyright policies & self-archiving
  • Related identifiers: pmc: PMC5501660, doi: 10.1371/journal.pgen.1006820
  • Subject: Immune System Proteins | Major Clinical Study | Genetic Association | QH426-470 | Medicin och hälsovetenskap | 2',5'-Oligoadenylate Synthetase | Enzyme Activity | Genetic Identification | Molecular Biology Techniques | Genetic Risk | Biosynthesis | Genetic Predisposition | Antibodies | Genetic Susceptibility | Female | Protein Expression | Immunology | Alleles | Genetics(clinical) | Biology and Life Sciences | Genetics of Disease | RNA | Alternative Splicing | Physiology | Ecology, Evolution, Behavior and Systematics | Human Cell | Nucleic acids | Body Fluids | Article | Sjogren'S Syndrome | Genotype | Genetic Association Study | Gene Expression Regulation | Medical Genetics | Medicinsk genetik | Protein Oas1 | Virus Diseases | /dk/atira/pure/subjectarea/asjc/1300/1306 | Metabolism | Male | Gene expression | Molecular Biology | Protein P48 | Unclassified Drug | Protein P46 | Autoantibody | Pathology | Research Article | Molecular Biology Assays and Analysis Techniques | Gene Expression and Vector Techniques | Protein P44 | /dk/atira/pure/subjectarea/asjc/1100/1105 | Cohort Analysis | Anatomy | Protein P42 | Transcriptome | Oas1 Protein, Human | Translation Initiation | Isoprotein | Quantitative Trait Loci | Cancer Research | RNA processing | Bioassays and Physiological Analysis | Genetics | Interferons | /dk/atira/pure/subjectarea/asjc/1300/1311 | Proteins | /dk/atira/pure/subjectarea/asjc/1300/1312 | Sjoegren Syndrome | Interferon Type I | Quantitative Trait Locus | Human | Autoantibodies | Alternative Rna Splicing | 3' Untranslated Region | Immune Physiology | Research and Analysis Methods | Interferon | Blood | Gene Frequency | Virus Infection | Medical and Health Sciences | Microarrays | Gene Locus | /dk/atira/pure/subjectarea/asjc/2700/2716 | Controlled Study | Virology | Allele | Biochemistry | 2',5' Oligoadenylate Synthetase | Gene Switching | Genetic Association Studies | Genetic Predisposition To Disease | Medicine and Health Sciences | Humans

Sjogrens syndrome (SS) is a common, autoimmune exocrinopathy distinguished by keratoconjunctivitis sicca and xerostomia. Patients frequently develop serious complications including lymphoma, pulmonary dysfunction, neuropathy, vasculitis, and debilitating fatigue. Dysreg... View more
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