Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR gen

Previous studies about the trends and sources of PV soft cost reduction have only offered a limited understanding of systemic aspects that drive this development. Drawing on concepts of sectoral innovation system theory, this study analyzes the evolution of the German PV sectoral system since the early 1990s, focusing specifically on key processes associated with the deployment of building-sited P

Metabolic syndrome is associated with cardiovascular disease, type 2 diabetes mellitus (T2DM) and prediabetes. Metabolic syndrome is a cluster of interrelated clinical disorders. Difficulties in regulating glucose levels in blood are implicated in many of these disorders. Lactate, another energy metabolite, is produced under anaerobic conditions and can be used to monitor the balance between aerob

The uncoupling proteins (UCPs) leak protons across the inner mitochondrial membrane, thus uncoupling the proton gradient from ATP synthesis. The main known physiological role for this is heat generation by UCP1 in brown adipose tissue. However, UCPs are also believed to be important for protection against reactive oxygen species, fine-tuning of metabolism and have been suggested to be involved in

The atmospheric organic aerosol is a tremendously complex system in terms of chemical content. Models generally treat the mixtures as ideal, something which has been questioned owing to model-measurement discrepancies. We used an oxidation flow reactor to produce secondary organic aerosol (SOA) mixtures containing oxidation products of biogenic (α-pinene, myrcene and isoprene) and anthropogenic (m

We study parametrised families of piecewise expanding interval mappings Ta : [0,1] → [0,1] with absolutely continuous invariant measures μa and give sufficient conditions for a point X(a) to be typical with respect to (Ta; μa) for almost all parameters a. This is similar to a result by D. Schnellmann, but with different assumptions.

Low-frequency noise measurements were performed on high-performance InGaAs nanowire MOSFETs. 1/f noise measurements show number fluctuations, rather than mobility fluctuations, as the dominant noise source. The minimum equivalent input gate voltage noise reported here is 80 μm2μV2/Hz, among the lowest values for III-V FETs, and showing the feasibility of a high-quality, low trap density, high-k ga

Design and properties are reported for a novel type of multi-channel isothermal microcalorimeter. It is equipped with 48 calorimetric units (channels) and is primarily intended for use as a monitor of the activity of living cells, tissues and small animals. Calorimetric vessels are positioned in a holder with the format of a 48-well microtiter plate. At most, 47 samples can be measured simultaneou

Type 1 diabetes is a lifelong, chronic disease, that generally has a sudden onset early in life, which changes the conditions for the affected child and the child’s family. The overall purpose of this thesis was to explore the socioeconomic consequences of childhood onset type 1 diabetes and through this investigate how an early life health shock can affect adult socioeconomic status. The four inc

ObjectivesThe diet and subsistence in Iron-Age Öland is debated as earlier studies and different archaeological sources seemingly provide conflicting interpretations. The objectives of this study are therefore to: (i) add new insights on diet and (ii) investigate the chronological variation in detail. It is common in studies of diet to investigate differences between datasets defined by archaeolog

The evidence for macroscopic life during the Palaeoproterozoic era (2.5-1.6 Gyr ago) is controversial. Except for the nearly 2-Gyr-old coil-shaped fossil Grypania spiralis, which may have been eukaryotic, evidence for morphological and taxonomic biodiversification of macroorganisms only occurs towards the beginning of the Mesoproterozoic era (1.6-1.0 Gyr). Here we report the discovery of centimetr

The Mesoproterozoic Eon [1,600-1,000 million years ago (Ma)] is emerging as a key interval in Earth history, with a unique geochemical history that might have influenced the course of biological evolution on Earth. Indeed, although this time interval is rather poorly understood, recent chromium isotope results suggest that atmospheric oxygen levels were 4% of present-day levels. Therefore, in cont

Fluctuating climate is a hallmark of Earth. As one transcends deep into Earth time, however, both the evidence for and the causes of climate change become difficult to establish. We report geochemical and sedimentological evidence for repeated, short-term climate fluctuations from the exceptionally well-preserved ∼1.4-billion-year-old Xiamaling Formation of the North China Craton. We observe two p

The oxygen content of Earth's atmosphere has varied greatly through time, progressing from exceptionally low levels before about 2.3 billion years ago, to much higher levels afterward. In the absence of better information, we usually view the progress in Earth's oxygenation as a series of steps followed by periods of relative stasis. In contrast to this view, and as reported here, a dynamic evolut

Exceptionally preserved fossil biotas of the Burgess Shale and a handful of other similar Cambrian deposits provide rare but critical insights into the early diversification of animals. The extraordinary preservation of labile tissues in these geographically widespread but temporally restricted soft-bodied fossil assemblages has remained enigmatic since Walcott's initial discovery in 1909. Here, w

The Devonian appearance of 1-10 meter long armored fish (placoderms) coincides with geochemical evidence recording a transition into fully oxygenated oceans.1 A comparison of extant fish shows that the large individuals are less tolerant to hypoxia than their smaller cousins. This leads us to hypothesize that Early Paleozoic O(2) saturation levels were too low to support >1 meter size marine, pred

The evolution of Earth's biota is intimately linked to the oxygenation of the oceans and atmosphere. We use the isotopic composition and concentration of molybdenum (Mo) in sedimentary rocks to explore this relationship. Our results indicate two episodes of global ocean oxygenation. The first coincides with the emergence of the Ediacaran fauna, including large, motile bilaterian animals, ca. 550-5