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A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5).
Police crash reports are often the main source for official data in many countries. However, police sampling and data are known to be subject to bias, making the countermeasures adopted according to them possibly inefficient. In the case of bicycle crashes, this bias is most acute and it probably varies across countries, with some of them being more prone to reporting accidents to police than othe
Aim: To study the impact of aging on DNA methylation and mRNA expression in human liver. Experimental procedures: We analysed genome-wide DNA methylation and gene expression in human liver samples using Illumina 450K and HumanHT12 expression BeadChip arrays. Results: DNA methylation analysis of ∼455,000 CpG sites in human liver revealed that age was significantly associated with altered DNA methyl
Soot has a pronounced effect on the cryosphere and experiments are still needed to reduce the associated uncertainties. This work presents a series of experiments to address this issue, with soot being deposited onto a natural snow surface after which the albedo changes were monitored. The albedo reduction was the most pronounced for the snow with higher soot content, and it was observed immediate
SOX9 is a transcription factor of the SRY family that regulates sex determination, cartilage development and numerous other developmental events. In the foetal growth plate, Sox9 is highly expressed in chondrocytes of the proliferating and prehypertrophic zone but declines abruptly in the hypertrophic zone, suggesting that Sox9 downregulation in hypertrophic chondrocytes might be a necessary step
A fundamental challenge in medical microbiology is to characterize the dynamic protein-protein interaction networks formed at the host-pathogen interface. Here, we generate a quantitative interaction map between the significant human pathogen, Streptococcus pyogenes, and proteins from human saliva and plasma obtained via complementary affinity-purification and bacterial-surface centered enrichment
Ischemic stroke (caused by thrombosis, embolism or vasoconstriction) lead to the recruitment and activation of immune cells including resident microglia and infiltrating peripheral macrophages, which contribute to an inflammatory response involved in regulation of the neuronal damage. We showed earlier that upon pro-inflammatory stimuli, the orderly activation of caspase-8 and caspase-3/7 regulate
AIMS: The CHA2DS2VASc score is used to evaluate the risk of thromboembolic events in patients with non-valvular atrial fibrillation. We assessed the prognostic yield of CHA2DS2VASc for new-onset atrial fibrillation, cardiovascular morbidity and mortality in a non-atrial fibrillation population.METHODS: We analysed a population-based cohort of 22,179 middle-aged individuals with (n = 3542) and with
In this work, we present measurements of the intensity-dependent photoelectron spectrum of Kr irradiated by the FLASH FEL tuned to a photon energy of 25.8 eV. Intensity dependent photoelectron spectra were obtained with the aid of a Velocity Map Imaging (VMI) spectrometer. As the FEL photon energy is close to threshold, two photon sequential double ionization is favoured. The number of open channe
Beside its classical role as a serum effector system of innate immunity, evidence is accumulating that complement has an intracellular repertoire of components that provides not only immune defense, but also functions to maintain cellular homeostasis. While complement proteins, mainly the central component C3, have been detected in B cells, their exact function and source remain largely unexplored
To clarify whether orthostatic blood pressure is affected by the type of diabetes, cardiac autonomic neuropathy, and the duration of diabetes, orthostatic blood pressure (passive 90°tilt) was evaluated in 102 patients with insulin dependent diabetes mellitus (IDDM), 51 patients with non-insulin dependent diabetes mellitus (NIDDM), and in 238 control subjects in a first study followed up after 8 to
Hippocampal atrophy is endemic in ‘normal aging’ but it is unclear what factors drive age-related changes in medial temporal lobe (MTL) structural measures. We investigated cross-sectional (n = 191) and longitudinal (n = 164) MTL atrophy patterns in cognitively normal older adults from ADNI-GO/2 with no to low cerebral β-amyloid and assessed whether white matter hyperintensities (WMHs) and cerebro
Artificial intelligence (AI) has shown promising results in digestive endoscopy, especially in capsule endoscopy (CE). However, some physicians still have some difficulties and fear the advent of this technology. We aimed to evaluate the perceptions and current sentiments toward the use of AI in CE. An online survey questionnaire was sent to an audience of gastroenterologists. In addition, several
Climate change substantially affects plant phenology, resulting in earlier vegetation onset across temperate and boreal regions. Phenological shifts caused by warming may alter species interactions across trophic levels because of species-specific responses, and influence the reproductive success of dioecious species if the phenological sensitivity to warming (ST) differs between genders. We used
Background: Essential proteins play an important role in the process of life, which can be identified by experimental methods and computational approaches. Experimental approaches to identify essential proteins are of high accuracy but with the limitation of time and resource-consuming. Objective: Herein, we present a computational model (PEPRF) to identify essential proteins based on machine lear
Galectins are versatile glycan-binding proteins involved in immunomodulation. Evidence suggests that galectins can control the immunoregulatory function of cytokines and chemokines through direct binding. Here, we report on an inverse mechanism in which chemokines control the immunomodulatory functions of galectins. We show the existence of several specific galectin-chemokine binding pairs, includ
The increasing levels of software- and data-intensive driving automation call for an evolution of automotive soft-ware testing. As a recommended practice of the Verification and Validation (VV) process of ISO/PAS 21448, a candidate standard for safety of the intended functionality for road vehicles, simulation-based testing has the potential to reduce both risks and costs. There is a growing body
Mutations in either mitochondrial DNA (mtDNA) or nuclear genes that encode mitochondrial proteins may lead to dysfunctional mitochondria, giving rise to mitochondrial diseases. Some mitochondrial myopathies, however, present without a known underlying cause. Interestingly, methylation of mtDNA has been associated with various clinical pathologies. The present study set out to assess whether mtDNA
