0000000000954545

AUTHOR

Tamara Castillo-triviño

0000-0002-9249-3185

showing 2 related works from this author

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multipl…

2020

The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 &times

Signal peptideGene isoformSignal peptidePopulationSingle-nucleotide polymorphismLocus (genetics)610 Medicine & healthBiologymultiple sclerosisMultiple sclerosis03 medical and health sciences0302 clinical medicineSNPIL-22 binding protein isoformsignal peptideddc:610Alleleeducation610 Medicine &amp; healthlcsh:QH301-705.5Peptide sequence030304 developmental biology0303 health scienceseducation.field_of_studyautoimmuneGeneral MedicineMolecular biologylcsh:Biology (General)<i>IL22RA2</i>IL22RA2Mutation[SDV.IMM]Life Sciences [q-bio]/Immunologymutation030217 neurology & neurosurgeryAutoimmune
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Multi-centre validation of a flow cytometry method to identify optimal responders to interferon-beta in multiple sclerosis.

2018

Background and objectives: Percentages of blood CD19 + CD5 + B cells and CD8 + perforin + T lymphocytes can predict response to Interferon (IFN)-beta treatment in relapsing-remitting multiple sclerosis (RRMS) patients. We aimed to standardize their detection in a multicenter study, prior to their implementation in clinical practice. Methods: Fourteen hospitals participated in the study. A reference centre was established for comparison studies. Peripheral blood cells of 105 untreated RRMS patients were studied. Every sample was analyzed in duplicate in the participating centre and in the reference one by flow cytometry. When needed, participating centres corrected fluorescence compensations…

0301 basic medicineOncologyAdultMalemedicine.medical_specialtyMultiple SclerosisIntraclass correlationConcordanceT cellClinical BiochemistryImmunologyBiochemistrySpearman's rank correlation coefficientMultiple sclerosis03 medical and health sciences0302 clinical medicineInternal medicineMedicineHumansMulticenter Studies as TopicFlow cytometryB cellbusiness.industryMultiple sclerosisBiochemistry (medical)General MedicineInterferon-betaMiddle Agedmedicine.diseaseFlow Cytometry030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisFemaleCD5businessCD8BiomarkersClinica chimica acta; international journal of clinical chemistry
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