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Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxy

Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently

Activation of receptor tyrosine kinases needs tight control by tyrosine phosphatases to keep their normal function. In this study, we investigated the regulation of activation of the type III receptor tyrosine kinase KIT by protein tyrosine phosphatase receptor type E (PTPRE). We found that PTPRE can associate with wild-type KIT and inhibit KIT activation in a dose-dependent manner, although the a

Exploring IL-17 in spondyloarthritis for development of novel treatments and biomarkers

Spondyloarthritis (SpA) is an umbrella term describing a family of chronic inflammatory rheumatic diseases. These diseases are characterised by inflammation of the axial skeleton, peripheral joints, and entheseal insertion sites throughout the body which can lead to structural joint damage including formation of axial syndesmophytes and peripheral osteophytes. Genetic evidence, preclinical and cli

Source contributions in precipitation chemistry and analysis of atmospheric nitrogen deposition in a Sahelian dry savanna site in West Africa

Experimental data on precipitation chemistry were collected at a semi-arid savanna in Senegal (Dahra) in 2013, 2014 and 2017. The chemical composition of precipitation was analyzed for inorganic and organic ions, using ionic chromatography. The pH values of precipitation range from 4.50 to 8.50 with 89% of the samples having basic pH. The composition of precipitation was controlled by four source

När syftet inte är målet - HFD 2021 ref. 33 i ljuset av unionsrättens missbruksprincip

Högsta förvaltningsdomstolen har i HFD 2021 ref. 33 återigen bekräftatdomstolens restriktiva tillämpning av skatteflyktslagen. I skiljelinjen mellanvad som utgör lagstiftningens syfte och dess övergripande mål framträderemellertid en nyansskillnad i majoritetens och minoritetens argumentationsom kan ha betydelse för hur skatteflyktslagen i framtiden kommer att tolkasi ljuset av unionsrätten. Med s

Intraoperative Cytology for Video-Assisted Thoracic Surgery : A Quality Improvement Analysis

Background: Frozen section is a standard of care procedure during thoracic surgery when an immediate diagnosis is needed. An alternative procedure is intraoperative cytology. Video-assisted thoracic surgery is currently widely used for thoracic surgical procedures. The aim of this study was to assess intraoperative cytology together with frozen section for accuracy, turnaround time, and total resp

Influences of accelerating states on supercritical n-decane heat transfer in a horizontal tube applied for scramjet engine cooling

Supercritical n-decane is applied in the regenerative cooling system of scramjet engines while scramjets are always in various irregular movements. With the desire to explore heat transfer performance of supercritical n-decane under actual flight conditions, numerical simulations and analysis of different states during the accelerated flight process are carried out under three different heat fluxe

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A critical edition of the correspondence of the Swedish consul in Marseille, François Philippe Fölsch, this book takes a fresh look at trade and geopolitics in the eighteenth-century Mediterranean, the mechanisms used to combat the plague, and revolutionary events in Marseille.