Filetype
Lynch syndrome caused by constitutional mismatch-repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the m
We present evidence from the RAdial Velocity Experiment (RAVE) survey of chemically separated, kinematically distinct disc components in the solar neighbourhood.We apply probabilistic chemical selection criteria to separate our sample into a-low ('thin disc') and a-high ('thick disc') sequences. Using newly derived distances,which will be utilized in the upcoming RAVE DR5, we explore the kinematic
Many arthropod species have evolved to thrive only on the leaves of a particular species of plant, which they must be capable of finding in order to survive accidental displacement, developmental transitions, or the changing of the seasons. A number of studies have tested whether such species select leaves to land or oviposit on based on their color, shape, or size. Unfortunately, many studies did
RGB displays effectively simulate millions of colors in the eyes of humans by modulating the relative amount of light emitted by 3 differently colored juxtaposed lights (red, green, and blue). The relationship between the ratio of red, green, and blue light and the perceptual experience of that light has been well defined by psychophysical experiments in humans, but is unknown in animals. The perc
Diminished insulin secretion and dysregulated glucagon secretion are key features of type 2 diabetes (T2D). The overall aim of this thesis was to study the role of cocaine- and amphetamine-regulated transcript (CART) in islet cell function and how CART regulates glucose homeostasis. We found that CART is expressed in human islet cells and that its expression is increased in patients with T2D, as w
Objective There is uncertainty about the direction and magnitude of the associations between parity, breastfeeding and the risk of coronary heart disease (CHD). We examined the separate and combined associations of parity and breastfeeding practices with the incidence of CHD later in life among women in a large, pan-European cohort study. Methods Data were used from European Prospective Investigat
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole-genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1% and a large increase in the number of SNPs tested in association studies, and it can help to discover and refine causal loci.
The sugar sensing and carbon catabolite repression in Baker’s yeast Saccharomyces cerevisiae is governed by three major signaling pathways that connect carbon source recognition with transcriptional regulation. Here we present a screening method based on a non-invasive in vivo reporter system for real-time, single-cell screening of the sugar signaling state in S. cerevisiae in response to changing
Only a small fraction of the peptides inside a cell are eventually presented by HLA-I on the cell surface. The presented peptides have HLA-I allomorph-specific motifs and length restrictions. Tapasin influences HLA-I antigen presentation both qualitatively and quantitatively to different degrees depending on both peptide sequence and HLA-I allomorph. The tapasin-dependence in cellular context has
To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association sign
Large and persistent gaps in subnational public expenditure have important implications regarding growth, equity, and migration. In this context, we revisit the question of expenditure convergence across the American states to provide more nuanced evidence than found by a small number of previous studies. We employ a methodology due to Smeekes (Bootstrap sequential tests to determine the stationar
