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The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the alpha 5-chain of type IV-collagen. More than 400 different mutations have so far been detected in the COL4A5 gene. Not all mutations, however, will be detected using an exon-by-exon mutation detection strategy such as SSCP analysis or direct sequencing. We have previously reported

The aim of this study is to examine the two novels Le Rouge et le Noir and La Chartreuse de Parme in the light of the theory of 'triangular desire', elaborated by René Girard in Mensonge romantique et vérité romanesque (1961). According to this theory, desire in Stendhal's novels – that is desire in a very general sense – is not spontaneous, but derived from a third part, that Girard labels the 'm

Bioethanol has received increasing attention as an alternative to petrol due to the current dependency on supplies from other countries and due to the increased concentration of the greenhouse gas carbon dioxide in the atmosphere. In this thesis, the development of 2nd generation production processes for bioethanol production from the lignocellulosic part of biomass is discussed. The conversion of

Software inspections are regarded as an important technique to detect faults throughout the software development process. The individual preparation phase of software inspections has enlarged its focus from only comprehension to also include fault searching. Hence, reading techniques to support the reviewers on fault detection are needed. Usage-based reading (UBR) is a reading technique, which foc

Popular Abstract in Swedish De flesta komponenter som används i vårt samhälle har genomgått en bearbetningsprocess i något skede i sin tillverkningscykel. På grund av detta spelar de ekonomiska aspekterna av bearbetningsprocessen en viktig roll i tillverkningskostnaden. Det finns flera skäl till att utveckla ett rationellt förhållningssätt till skärande bearbetning, såsom att förbättra skärteknik,Most components in use in our society have undergone a machining process at some stage within its manufacturing cycle. As a result, the economics of the machining process plays an important role in the manufacturing costs. There are several reasons for developing a rational approach to material removal, such as improving cutting techniques, producing products with enhanced precision, and increasin

A major strand in social work’s history has been its paternalistic character, partly due to a philanthropic tradition, but also to the tendency to import an individualist expert model into social work practice. As a result, gaps have arisen between expert and experiential knowledge. In this article, so called ‘gap mending strategies’ developed by the international network PowerUs are discussed. Po

Background: Persons with clinical onset of Alzheimer’s disease (AD) before 65 years of age are diagnosed with early-onset AD (EOAD). The prevalence of EOAD is low, but varies among studies from 6% to 16%. Most individuals with EOAD are still working, have an active social life, and might have children living at home. Therefore, the consequences of being diagnosed early with a disease that implies

Purpose: Age-related macular degeneration (AMD) is generally considered a disease of the macula. However, recent studies show peripheral retinal lesions are prevalent in patients with AMD, indicative of a disease process that is more widespread. Full-field electroretinography (ffERG) measures an electrical response, not only from the macula, but from the entire retina. We wanted to study the ffERG

Lens–based massive multiple–input multiple–output (MIMO) systems have considerable potential to reduce signal processing cost at millimeter–wave frequencies. As a result, they are able to lower the effective channel dimension via beam selection, realized with a network of radio–frequency (RF) switches. However, lens arrays suffer from the inherent quantization of the beamspace, as well as errors d

This paper presents a hysteretic (sliding mode) control IC for a buck DC/DC converter for use as an envelope tracking power supply to increase the efficiency of an RF power amplifier. The IC integrates a high-bandwidth error amplifier, a comparator with hysteresis, and a high-side driver for an external N-channel power MOSFET. The total control loop delay using the implemented IC is 35ns, this is

In order to identify genes associated with primary chemotherapy-resistance, gene expression profiles (GEP) in tumour tissue from 37 patients with de novo diffuse large B-cell lymphoma (DLBCL), stage II-IV, either in continuous complete remission (n = 24) or with progressive disease during primary treatment (n = 13), were examined using spotted 55K oligonucleotide arrays. Immunohistochemistry was u

Popular Abstract in Swedish Syftet med avhandlingen är att undersöka bondeskapets (the peasantry)framtida existens. Analysen görs på global nivå, men framför allt på lokal nivå i samband med implikationerna av Mexikos nya jordreform från 1992. Bonden dekonstrueras i ekonomisk-och sociopolitisk aktör för att belysa hans/hennes complexitet. Försörjningsstrategier i tider då staten ersätts av markandThe thesis deals with a classical issue, that of the fate of the peasantry, in particular the process of the transformation of the peasantry. The aim is to explore whether there is a place for the smallholding peasantry in the future, or if the process of dissolution is inevitable. The discussion of this broad question is approached by first deconstructing the peasantry into economic actors and so

Sensitivity analysis consists of an integral and important validatory check of a computer simulation model before the code is used in performing any kind of analysis operation. The present paper demonstrates the use of a relatively new method and tool for conducting global sensitivity analysis (GSA) for environmental models, providing simultaneously the first GSA study of the widely used 1d soil-v

Members of the order Haemosporida are protist parasites that infect mammals, reptiles and birds. This group includes the causal agents of malaria, Plasmodium parasites, the genera Leucocytozoon and Fallisia, as well as the species rich genus Haemoproteus with its two subgenera Haemoproteus and Parahaemoproteus. Some species of Haemoproteus cause severe disease in avian hosts, and these parasites d

We describe a NOVel form of Adaptive softening (NOVA) for collisionless N-body simulations, implemented in the RAMSES adaptive mesh refinement code. In RAMSES - that we refer to as a 'standard N-body method' - cells are only split if they containmore than eight particles (amass refinement criterion). Here, we introduce an additional criterion that the particle distribution within each cell be suff

Our interest in this paper is to explore limit theorems for various geometric functionals of excursion sets of isotropic Gaussian random fields. In the past, asymptotics of nonlinear functionals of Gaussian random fields have been studied [see Berman (Sojourns and extremes of stochastic processes, Wadsworth & Brooks, Monterey, 1991), Kratz and León (Extremes 3(1):57–86, 2000), Kratz and León (

Hundreds of PID design methods are available in literature. Many of them are very similar and sometimes it is not straightforward to understand their purposes. This paper presents an interactive software tool to help in the study and understanding of several wellknown PID tuning rules. Frequency- and time-domain responses are analyzed in order to show the robustness and performance properties of e

Type-2 diabetes (T2D) develops due to insulin resistance and an inability of the pancreatic β-cells to increase secretion of insulin and reduce elevated blood glucose levels. Diminished β-cell function and mass have been implicated in impaired β-cell secretory capacity and several microRNAs (miRNAs) have been reported to be involved in regulating β-cell processes. We believe miRNAs are nodes in im