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Topics in Human Gene Mapping

Popular Abstract in Swedish Att försöka lokalisera gener som ger upphov till sjukdomar är ingenting nytt. De första försöken gjordes redan i början av 1900-talet. Idén är ganska enkel. Man undersöker i vilka delar av genomet (arvsmassan) som generna tenderar till att skilja sig åt mellan sjuka och friska individer, men samtidigt delas av de sjuka individerna. Problemet är att det mänskliga genometThis thesis is interdisciplinary between Mathematical Statistics, Genetics, and Medicine. It mainly consists of topics in mathematical modelling of the correlation of inheritance of genes and disease in a family, a method called linkage analysis. It is organized as follows. First, a short introduction with the relevant background is given and then four papers are included. The first paper discuss

Comparison of two drug-eluting balloons: a report from the SCAAR registry.

Aims: Recently, drug-eluting balloons have received a guideline class IIa recommendation in the treatment of in-stent restenosis after bare metal stent implantation. It is not known if different balloons perform equally. Using a large real world registry, restenosis frequency was reported for two drug-eluting balloons. Methods and results: From April 2009 until September 2011, 1,129 patients w

Finns ingen sanning om invandringen

Många menar nu att vi har varit blinda för sanningen om invandring och integrationens problem. Men det finns förstås inte en enkel sanning kring detta komplexa problem. Så låt oss slippa även framtida enögdhet, skriver Jerker Karlsson, doktorand i etik vid Lunds Universitet.

Financialization as a strategy of workplace control in professional service firms

Recently, there has been an increased focus on finance as a form of control in corporations. In this paper, we explore financialization as an employee control strategy in a Big Four accountancy firm, and more specifically how it affects the everyday lives of the professionals within the firm. We found financialization involved attempts to transform employees work- ing lives into an investment acti

Increased susceptibility to collagen-induced arthritis in female mice carrying congenic Cia40/Pregq2 fragments.

ABSTRACT: INTRODUCTION: Collagen-induced arthritis (CIA) in mice is a commonly used experimental model for rheumatoid arthritis (RA). We have previously identified a significant quantitative trait locus denoted Cia40 on chromosome 11 that affects CIA in older female mice. This locus colocalizes with another locus, denoted Pregq2, known to affect reproductive success. The present study was performe

Effective ways of handling events in Central and Eastern Europe

Five hundred and sixty-one managers in Central and Eastern Europe were asked how much they relied on each of eight sources of quidance in handling eight relatively routine work events. A previous study indicated particularly strong reliance on one's own experience and training in the Czech Republic and Hungary. Managers from Poland and Slovakia relied more on superiors, while in Romania and Bulgar

Calcium-induced generation of reactive oxygen species in brain mitochondria is mediated by permeability transition.

Mitochondrial uptake of calcium in excitotoxicity is associated with subsequent increase in reactive oxygen species (ROS) generation and delayed cellular calcium deregulation in ischemic and neurodegenerative insults. The mechanisms linking mitochondrial calcium uptake and ROS production remain unknown but activation of the mitochondrial permeability transition (mPT) may be one such mechanism. In

SIX1 protein expression selectively identifies blastemal elements in Wilms tumor.

BACKGROUND: Wilms tumor (WT) is the most common renal neoplasm in children. Histologically, most WTs consist of three tissue elements: blastema, epithelium, and stroma. Some cases also show diffuse or focal anaplastic features. Previous studies have shown that a predominance of blastemal cells in post-chemotherapy WT specimens is associated with a poor clinical course. However, there is currently

Gene-environment interaction and male reproductive function.

As genetic factors can hardly explain the changes taking place during short time spans, environmental and lifestyle-related factors have been suggested as the causes of time-related deterioration of male reproductive function. However, considering the strong heterogeneity of male fecundity between and within populations, genetic variants might be important determinants of the individual susceptibi

Prevalence of blood parasites in different local populations of reed warbler (Acrocephalus scirpaceus) and great reed warbler (Acrocephalus arundinaceus)

Blood parasite prevalence in two related warbler species (Acrocephalus arundinaceus and A. scirpaceus) was studied at three Bulgarian sites that differed mainly in altitude and weather. The prevalence of Haemoproteus, the most common parasite genus, was significantly lower at the highest altitude site (730 in above sea level, asl). Such a pattern was not found in ectoparasite-transmitted Hepatozoo

WNT-5a-CKIalpha signaling promotes beta -catenin/E-cadherin complex formation and intercellular adhesion in human breast epithelial cells.

Wnt-5a is a non-transforming Wnt protein that is implicated in cell-polarity, adhesion and motility. We have previously shown that low expression of Wnt-5a is a predictor of shorter disease-free survival in human breast cancer. Here, we investigated whether ss-catenin/E-cadherin mediated cell-cell adhesion was affected by loss of Wnt-5a in breast carcinomas, thereby promoting a metastatic behavior

Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes.

Gene fusions have been described in approximately one-third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half are recurrent in the same histologic subtype. These gene fusions constitute pivotal driver mutations, and detailed studies of their cellular effects have provided important knowledge about pathogenetic mechanisms in STT. Furthermore, most fus