12 research outputs found

    Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

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    \ua9 2025 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.Somatic mutations in UBA1 are linked to VEXAS syndrome, a late-onset inflammatory disorder with rheumatological and haematological features, primarily affecting elderly men. This study examines the epidemiology of VEXAS in the United Kingdom using genomic databases and patient cohorts to estimate prevalence, identify novel UBA1 variants and predict their pathogenicity. Analysing data from the UK Biobank, 100 000 Genomes Project and clinical diagnostic laboratories, we found that VEXAS prevalence in UK males over 50 is lower than in US-based cohorts. Notably, canonical (Met41) UBA1 mutations appear in ~1% of individuals with autoinflammatory disorders who have not been referred to haematology. However, among those investigated for myeloid malignancies, VEXAS is relatively common, with an estimated incidence of 1.51 per 100 000, or 171 new cases each year. We identified 47 UBA1 non-Met41 variants of uncertain significance, with several showing clonal dominance and clustering in functional domains, suggesting potential pathogenicity. Clinical presentation associated with non-Met41 variants often diverged from classical VEXAS features, underscoring the need for further studies. Our findings highlight the importance of broader screening for both canonical and non-canonical UBA1 mutations to improve understanding of VEXAS syndrome and its underlying mechanisms

    A review of cnidarians and ctenophores feeding on competitors in the plankton

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    Predation among pelagic cnidarians and ctenophores is reviewed. The diets of semaeostome scyphomedusae and hydromedusae commonly include other gelatinous zooplanktivores. However, few species of siphonophores and ctenophores are known to consume other gelatinous species. Most of these species can be said to exhibit intraguild predation, since they consume species that potentially compete with them for food. In addition, some hydromedusan and ctenophore species may consume other gelatinous zooplanktivores exclusively. Characteristics of cnidarians and ctenophores as predators and as prey of other gelatinous species are discussed
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