Background: In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP). Results: The variant calling step distinguishes two types of genomic variants: single nucleotide variants (SNVs) and indels, which undergo technical quality control. Mendelian

Angiogenesis occurs early in tumor development, sustains primary tumor growth and provides a route for metastatic escape. The TGF-β family receptors modulate angiogenesis via endothelial-cell specific pathways. Here we investigate the interaction of two such receptors, ALK1 and endoglin, in pancreatic neuroendocrine tumors (PanNET). Independently, ALK1 and endoglin deficiencies exhibited genetical

Background: Genome-wide association studies (GWASs) have identified several single-nucleotide polymorphisms (SNPs) influencing the risk of thyroid cancer (TC). Most cancer predisposition genes identified through GWASs function in a co-dominant manner, and studies have not found evidence for recessively functioning disease loci in TC. Our study examines whether homozygosity is associated with an in

Neutron-rich light nuclei and their reactions play an important role in the creation of chemical elements. Here, data from a Coulomb dissociation experiment on N20,21 are reported. Relativistic N20,21 ions impinged on a lead target and the Coulomb dissociation cross section was determined in a kinematically complete experiment. Using the detailed balance theorem, the N19(n,γ)N20 and N20(n,γ)N21 ex

The purpose of this study is to investigate the interaction between small-scale turbulence and aerosol and cloud microphysical properties using direct numerical simulations (DNS). We consider the domain located at the height of about 2000 m from the sea level, experiencing transient high supersaturation due to atmospheric fluctuations of temperature and humidity. To study the effect of total numbe

Coastal margins play a significant role in the burial of organic matter (OM) on Earth. These margins vary considerably with respect to their efficiency in OM burial and to the amounts and periodicity of their OM delivery, depending in large part on whether they are passive or active margins. In the context of global warming, these coastal regions are expected to experience higher water temperature

Oxidized phospholipids occur naturally in conditions of oxidative stress and have been suggested to play an important role in a number of pathological conditions due to their effects on a lipid membrane acyl chain orientation, ordering, and permeability. Here we investigate the effect of the oxidized phospholipid 1-palmitoyl-2-azelaoyl-sn-glycero-3-phosphocholine (PazePC) on a model membrane of 1-

Rhinovirus infection is a major cause of chronic obstructive pulmonary disease (COPD) exacerbations and may contribute to the development into severe stages of COPD. The macrolide antibiotic azithromycin may exert anti-viral actions and has been reported to reduce exacerbations in COPD. However, little is known about its anti-viral actions on bronchial epithelial cells at clinically relevant conce

Intracellular α-synuclein deposits, known as Lewy bodies, have been linked to a range of neurodegenerative disorders, including Parkinson's disease. α-Synuclein binds to synthetic and biological lipids, and this interaction has been shown to play a crucial role for both α-synuclein's native function, including synaptic plasticity, and the initiation of its aggregation. Here, we describe the interp

Cancer is typically classified as a leading non-communicable disease; however, infectious agents, such as Helicobacter pylori (H. pylori), hepatitis B virus (HBV), hepatitis C virus (HCV) and human papilloma virus (HPV), contribute significantly to the pathogenesis of various cancers. Less developed countries, including countries of the North African (NA) region, endure the highest burden of infec

This paper deals with the need of developing a method that can assist designers to select appropriate solarcontrol mechanisms in highly glazed spaces, in order to provide enhanced daylight and views while avoidingoverheating. The development of the method is based on real life needs and was initiated by an actual projectthat we, as building physicists / façade consultants were called in to assist.

Avhandlingen har titeln ”Konsten att upprätthålla löneskillnader mellan kvinnor och män” och är en rättssociologisk studie av vad som stått i vägen för likalöneprincipen, när internationella konventioner och EU-rätten medfört krav på förändringar av kollektivavtal och lagstiftning. Avhandlingens syfte har varit att undersöka och förstå hur löneskillnader mellan kvinnor och män skapas och återskapaThis dissertation, entitled “The Art of Preserving the Gender Pay Gap,” is a study in the sociology of law. It examines the obstructions to the principle of equal pay that persist in the face of international conventions and EU legislation that have mandated changes to legislation and collective bargaining agreements. The dissertation seeks to investigate and explain how the pay gap between women

The Historical Database of Scanian Agriculture (HDSA) is a micro-level database over farm production in the most southern Swedish region of Scania (Skåne) based on flexible tithes. It contains over 85,000 farm level observations of both vegetable and animal production for the period 1702 to 1881. Moreover, this information is supplemented by information on the farmer, the farm, on enclosures, natu