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Genetic and gut microbiome determinants of SCFA circulating and fecal levels, postprandial responses and links to chronic and acute inflammation

Short-chain fatty acids (SCFA) are involved in immune system and inflammatory responses. We comprehensively assessed the host genetic and gut microbial contribution to a panel of eight serum and stool SCFAs in two cohorts (TwinsUK, n = 2507; ZOE PREDICT-1, n = 328), examined their postprandial changes and explored their links with chronic and acute inflammatory responses in healthy individuals and

Occupational noise exposure and acute effects on pulse rate and blood pressure

Environmental exposure to noise and particle matter (PM) are risk factors for cardiovascular disease (CVD). Although there are often higher levels in occupational settings, little is known about noise and particle exposures at work and CVD risks. We investigated occupational noise and particle exposures and acute effects on pulse rate and blood pressure. 46 active, non-smoking, male construction w

EHD2 regulates plasma membrane integrity and downstream insulin receptor signalling events

Adipocyte dysfunction is a crucial driver of insulin resistance and type 2 diabetes. We identified EH domain-containing protein 2 (EHD2) as one of the most highly upregulated genes at the early stage of adipose tissue expansion. EHD2 is a dynamin-related ATPase influencing several cellular processes, including membrane recycling, caveolae dynamics and lipid metabolism. Here, we investigated the ro

Identification PMS1 and PMS2 as potential meiotic substrates of CDK2 activity

Cyclin dependent-kinase 2 (CDK2) plays important functions during the mitotic cell cycle and also facilitates several key events during germ cell development. The majority of CDK2's known meiotic functions occur during prophase of the first meiotic division. Here, CDK2 is involved in the regulation of meiotic transcription, the pairing of homologous chromosomes, and the maturation of meiotic cross

The Book Pippi Longstocking in the GDR 1975 and 1988 : Possibilities and Limitations of Materiality

The aim of this presentation is to examine the complex reception history of Astrid Lindgren's classic children's book “Pippi Longstocking” in the GDR based on the appearance and paper quality of the various editions. “Pippi Longstockning” was published in two different editions in 1975 and 1988 by the East Berlin Children's Book Publishing House (Kinderbuchverlag Berlin). The differences between t

Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models

The application of multiple omics technologies in biomedical cohorts has the potential to reveal patient-level disease characteristics and individualized response to treatment. However, the scale and heterogeneous nature of multi-modal data makes integration and inference a non-trivial task. We developed a deep-learning-based framework, multi-omics variational autoencoders (MOVE), to integrate suc

Migration direction in a songbird explained by two loci

Migratory routes and remote wintering quarters in birds are often species and even population specific. It has been known for decades that songbirds mainly migrate solitarily, and that the migration direction is genetically controlled. Yet, the underlying genetic mechanisms remain unknown. To investigate the genetic basis of migration direction, we track genotyped willow warblers Phylloscopus troc

Technology shifts and reallocation of labour: On the role of leading industries

In our paper we address a gap in the literature, identified by Silverberg (2007), who claims that we miss an objective criteria for identifying leading sectors associated with technology-induced structural change and measuring their effects on functioning of the economy. In particular, we analyse the role of leading industries in labour reallocation across regions as a mechanism of smoothing regio

The effect of stereovision on the experience of VR models of the external surroundings and the interior of a building.

Virtual reality carries great promise to facilitate the building process. Some examples are the communication between architects and building companies, sellers and buyers or the community planners and the general public. It is often thought that in order to utilize the possibilities of VR, for example in the above-mentioned contexts, it is necessary to use full-fledged versions of VR including fo

LoFtool : a gene intolerance score based on loss-of-function variants in 60 706 individuals

MOTIVATION: Depletion of loss-of-function (LoF) mutations may provide a rank of genic functional intolerance and consequently susceptibility to disease.RESULTS: Here we have studied LoF mutations in 60 706 unrelated individuals and show that the most intolerant quartile of ranked genes is enriched in rare and early onset diseases and explains 87% of de novo haploinsufficient OMIM mutations, 17% mo

The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism

SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located

Frequent low-level mutations of Protein Kinase D2 in angiolipoma

Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domai

The time of data – conditions for digital knowledge production in big science

Increasingly the material research deals with is cast as data. This is an ambiguous concept, which describes the matter of research in all stages of the research process. From having been seen as a stepping-stone on the way to producing the scientific results, increasingly data is itself positioned as the result. At the same time demands for data preservation and open data are often motivated with

“And how old are you?”: Age reference as an interpretative device in radio counselling

Aim of study: Negotiations about problem definitions are a crucial part of psychotherapeutic and counselling work. In a conversation with a psychotherapist or a counsellor, the client's initial description of his or her trouble is transformed into an expert-informed problem formulation. This study aims to explicate how reasoning about troubles and life difficulties in a dialogue with a psychothera

Will I fit in and do well? The importance of social belongingness and self-efficacy for explaining gender differences in interest in STEM- and HEED-majors.

Throughout the world, the labor market is clearly gender segregated. More research is needed to explain women's lower interest in STEM (Science, Technology, Engineering and Mathematics) majors and particularly to explain men's lower interest in HEED (Health care, Elementary Education, and the Domestic spheres) majors. We tested self-efficacy (competence beliefs) and social belongingness expectatio

Estimation of the Relative Contribution of Postprandial Glucose Exposure to Average Total Glucose Exposure in Subjects with Type 2 Diabetes

We hypothesized that the relative contribution of fasting plasma glucose (FPG) versus postprandial plasma glucose (PPG) to glycated haemoglobin (HbA1c) could be calculated using an algorithm developed by the A1c-Derived Average Glucose (ADAG) study group to make HbA1c values more clinically relevant to patients. The algorithm estimates average glucose (eAG) exposure, which can be used to calculate