2023
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments
Kato H, Braddock D, Ito N. Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments. Current Osteoporosis Reports 2023, 21: 552-566. PMID: 37530996, PMCID: PMC10543536, DOI: 10.1007/s11914-023-00814-6.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDiffuse idiopathic skeletal hyperostosisAutosomal recessive hypophosphatemic rickets type 2Idiopathic skeletal hyperostosisSkeletal hyperostosisOPLL patientsGenetic factorsPathogenic variantsFibroblast growth factor 23Growth factor 23Posterior longitudinal ligamentSpinal ligament ossificationRecent FindingsRecent studiesStrong genetic factorImportant new biomarkerDisease courseFactor 23Longitudinal ligamentClinical evaluationPlasma biomarkersClinical trialsLigament ossificationPlasma PPiCalcification disordersPatientsEctopic calcification
2009
Soluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses
Maier LM, Anderson DE, Severson CA, Baecher-Allan C, Healy B, Liu DV, Wittrup KD, De Jager PL, Hafler DA. Soluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses. The Journal Of Immunology 2009, 182: 1541-1547. PMID: 19155502, PMCID: PMC3992946, DOI: 10.4049/jimmunol.182.3.1541.Peer-Reviewed Original ResearchConceptsMultiple sclerosisIL-2 receptorMS subjectsHealthy controlsOrgan-specific autoimmune disordersChronic systemic inflammationType 1 diabetesT cell proliferationMultiple sclerosis subjectsStrong genetic factorIL-2 signalingSIL-2RaSystemic inflammationAutoimmune disordersImmunological perturbationsAutoimmune diseasesIL-2RAControl subjectsMS casesSerum concentrationsDisease onsetSpecific allelic variantsImmune responseAggressive formDisease risk
2003
Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder
Meira‐Lima I, Shavitt R, Miguita K, Ikenaga E, Miguel E, Vallada H. Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder. Genes Brain & Behavior 2003, 3: 75-79. PMID: 15005715, DOI: 10.1046/j.1601-1848.2003.0042.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionCarrier ProteinsCase-Control StudiesCatechol O-MethyltransferaseFemaleGene FrequencyHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsObsessive-Compulsive DisorderPolymorphism, GeneticReceptor, Serotonin, 5-HT2AReference ValuesRegulatory Sequences, Nucleic AcidSerotonin Plasma Membrane Transport ProteinsConceptsObsessive-compulsive disorderGene polymorphismsT variantOCD patientsSerotonin receptor type 2A geneSerotonin-2A receptor gene polymorphismCross-sectional studyReceptor gene polymorphismsStrong genetic factorGenetic risk factorsControl subjectsRisk factorsDopaminergic systemDisease pathogenesisControl groupSerotonin transporter genePharmacological studiesPatientsGenetic factorsGenotypic distributionPrecise mechanismSignificant differencesFurther studiesCOMT geneFrequency of alleles
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