Search Results - "Tumakova, Anastasia V"
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IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus
Published in Biomedicines (01-06-2024)“…Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early…”
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The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience
Published in Frontiers in pediatrics (08-02-2022)“…JAK-inhibitors are small molecules blocking the JAK-STAT pathway that have proven effective in the treatment of different immune-mediated diseases in adults…”
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Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity
Published in Clinical genetics (01-09-2020)“…Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected…”
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Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
Published in European journal of medical genetics (01-02-2022)“…Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated…”
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The Clinical Course and Outcomes of Familial Mediterranean Fever in Crimean Tatar Patients: Preliminary Results of Case Series
Published in Voprosy sovremennoĭ pediatrii (10-08-2020)“…Background. Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. It is more typical among Turks, Jews, Armenians, Arabs…”
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