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C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No

Detailed models of the binary pulsars J1141-6545 and B2303+46

We have modelled the formation of the eccentric double-degenerate binaries J1141-6545 and B2303+46 using the Henyey-type full stellar evolution code STARS and the population synthesis code BSE. We find that the outcome depends strongly on the common envelope (CE) evolution efficiency parameter alpha(CE) and show that both systems can be modelled with a single value of alpha(CE). The final orbit of

Unveiling the EU VAT Treatment of Non-Fungible Tokens (NFTs): An Extensive Analysis of the VAT Consequences for NFT Trading

Non-fungible tokens (NFTs) have gained significant attention in recent years as a rapidly growing form of crypto assets with unique characteristics. However, existing tax regulations have struggled to keep up with these developments. This thesis addresses the taxation of NFTs within the European Union (EU) and highlights the legal gap in their treatment, given their exclusion from the Markets in C

Differential Recognition of P. falciparum VAR2CSA Domains by Naturally Acquired Antibodies in Pregnant Women from a Malaria Endemic Area

Plasmodium falciparum infected red blood cells (iRBC) express variant surface antigens (VSA) of which VAR2CSA is involved in placental sequestration and causes pregnancy-associated malaria (PAM). Primigravidae are most susceptible to PAM whereas antibodies associated with protection are often present at higher levels in multigravid women. However, HIV co-infection with malaria has been shown to al

Reversal of Immunoglobulin. A Deficiency in Children

Immunoglobulin A deficiency (IgAD) is the most common primary immunodeficiency in the general population. It is defined as a serum IgA level below or equal to 0.07 g/l with normal IgM and IgG levels in children over the age of 4. However, a few cases of reversal of IgAD at later ages have been observed previously, especially in pediatric patients. This study aimed at investigating the frequency of

Impaired Mitochondrial Function and Insulin Resistance of Skeletal Muscle in Mitochondrial Diabetes

OBJECTIVE - Impaired muscular mitochondrial function is related to common insulin resistance in type 2 diabetes. Mitochondrial diseases frequently lead to diabetes, which is mostly attributed to defective beta-cell mitochondria and secretion. RESEARCH DESIGN AND METHODS - We assessed muscular mitochondrial function and lipid deposition in liver (hepatocellular lipids [HCLs]) and muscle (intramyoce

THE ROLE OF DENDRITIC CELLS AND TYPE I INTERFERON IN THE GENERATION AND FUNCTION OF T FOLLICULAR HELPER CELLS

Popular Abstract in Swedish Immunförsvaret har till uppgift att skydda kroppen mot främmande mikroorganismer såsom bakterier och virus. En rad olika celler, vävnader samt organ samarbetar för att utforma ett väl fungerande immunförsvar. Det är ytterst viktigt att immunförsvaret känner igen kroppsfrämmande ämnen (antigen), som till exempel bakterieceller, men också att det skiljer dessa från kroppsGeneration of long-lived plasma cells and memory B cells of high affinity takes place in germinal centers and depends on help from a specialized CD4+ T cell subset termed T follicular helper (Tfh) cells. These processes are crucial for long-term protection upon natural infection or in settings of vaccination, however they are also responsible for development of antibody-mediated autoimmune disease

Reactive Oxygen Species Produced by the NADPH Oxidase 2 Complex in Monocytes Protect Mice from Bacterial Infections

Chronic granulomatous disease (CGD) is an inherited disorder characterized by recurrent life-threatening bacterial and fungal infections. CGD results from defective production of reactive oxygen species by phagocytes caused by mutations in genes encoding the NADPH oxidase 2 (NOX2) complex subunits. Mice with a spontaneous mutation in Ncf1, which encodes the NCF1 (p47(Phox)) subunit of NOX2, have d

Exciton Binding Energy and the Nature of Emissive States in Organometal Halide Perovskites.

Characteristics of nanoscale materials are often different from the corresponding bulk properties providing new, sometimes unexpected, opportunities for applications. Here we investigate the properties of 8 nm colloidal nanoparticles of MAPbBr3 perovskites and contrast them to the ones of large microcrystallites representing a bulk. X-ray spectroscopies provide an exciton binding energy of 0.32 ±

Regulation of alternative macrophage activation by galectin-3

Alternative macrophage activation is implicated in diverse disease pathologies such as asthma, organ fibrosis, and granulomatous diseases, but the mechanisms underlying macrophage programming are not fully understood. Galectin-3 is a carbohydrate-binding lectin present on macrophages. We show that disruption of the galectin-3 gene in 129sv mice specifically restrains IL-4/IL-13-induced alternative

Genomic and Molecular Aspects of Mature Human B Cells

This thesis covers aspects of the mature human B cell and its different guises on its way to become a fully differentiated antibody forming plasma cell (AFC), the key player in the humoral immune system. The understanding of the complex molecular mechanisms taking place in the B cell, as it first encounters antigen, enters the germinal center (GC) reaction, giving rise to memory cells and plasma c

Island biogeography and population divergence in the Skyros wall lizard

Popular Abstract in Swedish Öbiogeografi och populationsdifferentiering hos Skyros murödla Hur den fantastiska variationen som finns i naturen bildas är en fråga som länge fascinerat biologer. För mer än 150 år sedan inledde två välkända biologer, Charles Darwin och Alfred Russel Wallace, en brevväxling som skulle komma att bli startskottet för ett paradigmskifte. De hade båda fått idén om naturlIslands are cradles for new biodiversity and provide natural laboratories for the study of population divergence. In my thesis, I investigated the role of different evolutionary processes in the population divergence in the Skyros wall lizard (Podarcis gaigeae), a species where islet populations have strongly diverged morphologies. I used replicate islet populations and their respective most proxi

Recording of optical near-field in laser photoelectron microscope by means of two-photon ionization by femtosecond laser pulses

It is shown that the high-resolution laser photoelectron microscope withsubwavelength-spatial resolution can be used for an absolute values ofthe two-photon external photoelectric effect measurements with high (afew nm-scale) localization. The spatial distribution of light intensityin the near field is studied by observing the photoelectron projectionimages of a subwavelength nanoaperture. The ima

Experiencing the University Context

Our problem is how to design, with the use of distance and ICT, an appropriate academic context for learning, for students with no previous knowledge of this context. Our aim is to analyse and describe the learner’s relation to the object of his/her studies as part of his/her relation to the learning activity. By using a combination of a phenomenographic approach and activity system theory, we ana

Molecular Recognition in Antibody Engineering. Studies on recombinant and phage displayed antibodies

Popular Abstract in Swedish Denna avhandling handlar om antikroppar. Antikroppar är proteiner som bildas av vårt immunförsvar för att skydda oss mot farliga ämnen i vår omgivning, som tex bakterier. På grund av antikroppars unika uppbyggnad och funktion utnyttjas ofta dessa på konstgjord väg. De kan injiceras i kroppen för att bota någon sjukdom eller användas på laboratoriet i olika analyser. InnIn vitro generation of antibody fragments of desired specificity and affinity plays an important role since it permits the generation of reagents which may be valuable for diagnostic and therapeutic applications. Furthermore, the kinetic parameters for an antibody-antigen interaction, rather than the affinity, has shown to correlate with biological functions like virus neutralization. This points