The experiments here advance understanding of the function of the SAMD9L gene and protein in innate immune mechanisms in resisting virus infection and in the pathogenesis of inflammatory, hematological, and neurological disorders. The clinical syndrome defined in two children with de novo truncating SAMD9L mutations expands the phenotypes in this newly recognized autoinflammatory disorder. Analysis of cells expressing normal or mutant SAMD9L reveals the protein represses protein translation, with the truncating mutations greatly exaggerating this activity. The experiments find equally potent gain of function caused by the truncating mutations or a recurrent missense mutation associated with clinically milder ataxia and pancytopenia syndromes, demonstrating that diverse clinical manifestations can arise from mutations that appear cell-biologically equivalent.
All study data are included in the article and/or [ SI Appendix ][1]. [1]: https://www.pnas.org/lookup/suppl/doi:10.1073/pnas.
Human tumor microenvironment chip evaluates the consequences of platelet extravasation and combinatorial antitumor-antiplatelet therapy in ovarian cancer sciencemag.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sciencemag.org Daily Mail and Mail on Sunday newspapers.
Apr 14 2021 Read 11 Times
Thermo Fisher Scientific today announced the completion of the US Food and Drug Administration (FDA) listing for the Applied Biosystems QuantStudio 5 Dx Real-Time PCR System. The innovative product enables clinical laboratories and assay developers to meet testing demands and enhance their molecular diagnostics workflows.
Clinical diagnostic and hospital laboratories across the United States have ramped up PCR testing over the last year in response to the global COVID-19 pandemic. These laboratories are now seeking solutions to continue to screen for COVID-19 after emergency use authorisations (EUAs) for SARS-CoV-2 assays expire.
The high-performing qPCR system’s simplified, efficient workflow minimises steps to deliver quality results in as little as 30 minutes. The system has high sensitivity and specificity and offers up to six channels for multiplexing. The cost-effective and complete solution, including simplified software, enhanced
Published: Apr 01, 2021
Unwavering R&D initiatives is compelling government entities to sanction research projects incorporating advanced genetic analyzer systems
Fact.MR, Rockville MD: The ongoing study on genetic analyzer systems market being conducted by Fact.MR forecasts an optimistic outlook through 2021 and beyond. The novel coronavirus pandemic provided additional tailwinds through FY 2020-21, as healthcare experts were extensively engaged in discovering key breakthroughs to combat the deadly virus.
Prior to the pandemic’s onset, the market was already posting impressive gains, majorly underpinned by unceasing research initiatives by multiple entities. For instance, the Department of Biotechnology (DBT) in India initiated the Genome India Project (GIP) on 3