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Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically applicable lentiviral vector expressing TCIRG1 to correct osteoclast function in IMO. Two mammalian

Traditional linkage analysis and genome-wide association studies have identified HLA and a number of non-HLA genes as genetic factors for islet autoimmunity (IA) and type 1 diabetes (T1D). However, the relative risk associated with previously identified non-HLA genes is usually very small as measured in cases/controls from mixed populations. Genetic associations for IA and T1D may be more accurate

Background Dementia with Lewy bodies is the second most common form of dementia in elderly people but has been overshadowed in the research field, partly because of similarities between dementia with Lewy bodies, Parkinson's disease, and Alzheimer's disease. So far, to our knowledge, no large-scale genetic study of dementia with Lewy bodies has been done. To better understand the genetic basis of

Finds and observations of the Silvery Leafcutter Bee Megachile leachellaNT Curtis in Åhus, the Swedish province of Scania, are reported, with observations of some other bee species. The Åhus area is one of the most important bee diversity areas in Sweden.The Large Yellow-Face Bee Hylaeus signatusNT (Panzer) (Hymenoptera: Colletidae) found in the Botanical Garden of Lund.

A first find and a few subsequent observations of the oligolectic Large Yellow-Face Bee Hylaeus signatusNT (Panzer) were made during the second half of August in the Botanical Garden of Lund, province of Scania, Southern Sweden. About a dozen of specimens were attracted to a stand of Reseda luteola, one of its primary pollen sources. This bee is one of several newcomers among solitary bees in SwedA first find and a few subsequent observations of the oligolectic Large Yellow-Face Bee Hylaeus signatusNT (Panzer) were made during the second half of August in the Botanical Garden of Lund, province of Scania, Southern Sweden. About a dozen of specimens were attracted to a stand of Reseda luteola, one of its primary pollen sources. This bee is one of several newcomers among solitary bees in Swed

Until recently, the methylotrophic yeasts, including Hansenula polymorpha, have not been considered as a potential producer of biofuels, particularly, ethanol from lignocellulosics. However it is already known that the thermotolerant methylotrophic yeast H. polymorpha is capable to ferment xylose, glucose and cellobiose, the main sugars of lignocellulosic hydrolysates, under elevated temperature.

This dissertation is about the Swedish filmmaker, painter and composer Peter Kylberg (1938). Kylberg’s nine films produced between 1959 and 1996 serves as a historical delimitation. A purpose of the study is to critically review the existing historical writing surrounding Swedish film culture and film politics, during the timespan in focus. The approach of the dissertation is chronological and pre

Electronic dynamics takes place on the attosecond timescale and can thus only be studied using a tool with attosecond temporal resolution. High harmonic generation (HHG) provides coherent attosecond pulses in the extreme ultraviolet spectral region. The work presented in this thesis focuses on generating and characterizing ultrashort femtosecond pulses and using them for HHG, together with a gatin

Background: Vel blood group expression is dependent on Small Integral Membrane Protein 1 (SMIM1), a recently discovered erythroid protein. SMIM1 consists of 78 amino acids (aa) and shows only limited homology to other human proteins but is evolutionarily conserved, indicating its importance. The protein has a predicted transmembrane domain but the direction of insertion into the red blood cell (RB