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Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets, but none have yet been described for type 2 diabetes (T2D). Through sequencing or genotyping of ∼150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp32

The recent influx of migrants and asylum seekers in Europe has drawn our attention towards the future of Schengen and European border politics. In 2014-2015 a European collaborative project called Turnstone (partly funded by the European commission) was implemented to increase control of European borders in the Baltic Sea area and to diminish trans-boundary criminality. The purpose of the project

Athletes constantly report experiences of momentum during athletic contests, and they consider momentum as being an important factor for the outcome of a competition. However, researchers trying to capture momentum with quantitative methods see themselves confronted with inconclusive results. To explain this gap between athletes’ belief and results from quantitative data, it is hypothesised that m

In this study, the relation between fruit and vegetable consumption and mortality was investigated within the European Prospective Investigation Into Cancer and Nutrition. Survival analyses were performed, including 451,151 participants from 10 European countries, recruited between 1992 and 2000 and followed until 2010. Hazard ratios, rate advancement periods, and preventable proportions to respec

The variables measured in modern pulse oximetry apparatuses include a graphical pulse curve and a specified perfusion value (PV) that could be a sensitive marker for detecting differences in sympathetic activity. We hypothesized that there is a correlation between a reduction of PV and the time to eye opening after general anaesthesia. The objective was to investigate whether PV can predict eye op

OBJECTIVE: The aim of this research was to study the discomfort experienced by adolescents when answering questions in a survey about sexuality and sexual abuse and to investigate factors that may determine possible experience of discomfort. The research focused particularly on vulnerable adolescents-sexually abused and sexually inexperienced. METHOD: Adolescents in their final year of high school

Streptococcus pyogenes of the M1 serotype can cause STSS, which is associated with significant morbidity and mortality. The purpose of the present study was to examine the role of NFAT signaling in M1 protein-induced lung injury. NFAT-luc mice were treated with the NFAT inhibitor A-285222 before administration of the M1 protein. Neutrophil infiltration, edema, and CXC chemokines were quantified in

Recoverin a member of the neuronal calcium sensor (NCS) branch of the calmodulin superfamily, is expressed in retinal photoreceptor cells and serves as a calcium sensor in vision. Ca2+-induced conformational changes in recoverin cause extrusion of its covalently attached myristate (termed Ca2+-myristoyl switch) that promotes translocation of recoverin to disk membranes during phototransduction in

MafA is a key transcriptional activator of islet beta cells and its exclusive expression within beta cells of the developing and adult pancreas is distinct amongst pancreatic regulators. Region 3 (base pairs -8118/-7750 relative to the transcription start site), one of six conserved 5' cis-domains of the MafA promoter, is capable of directing beta-cell-line-selective expression. Transgenic reporte

In this paper we investigate the size, structure and scaling relationships in glycogen isolated from five different animal sources. For this purpose a versatile fractionation technique, asymmetrical flow field-flow fractionation (AsFlFFF), coupled to multi-angle light scattering, is utilized. For determination of the average degree of branching 1H NMR is utilized. The results give a detailed insig

Abstract Conclusion: No statistically significant 5-year survival difference was seen in patients with oral and oropharyngeal squamous cell carcinoma (OOPSCC) between high-risk HPV-positive and -negative groups in this population-based study. Objectives: To see if the formerly observed higher risk for recurrence or second primary tumour (SPT) in high-risk HPV-positive patients with OOPSCC correspo

Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development of a new class of therapeutics. It is uncertain whether the PCSK9 example represents a paradigm or an isolated exception. We used the "Exome Arra

OBJECTIVE: To present validity data for the Work Experience Measurement Scale (WEMS), an instrument measuring multifaceted work experience from a salutogenic health resource perspective as a contrast to the more common pathogenic risk perspective, by exploring WEMS relationship to established measurements that are positively related to health and work. A salutogenic perspective focuses on finding

Kaposi's sarcoma-associated herpes virus (KSHV) encodes its own inhibitor of the complement system, designated KSHV complement control protein (KCP). Previously, we detected anti-KCP antibodies in a small group of 22 patients suffering from Kaposi's sarcoma (KS) and KSHV-related lymphoproliferative diseases (Vaccine, 25:8102-9). Anti-KCP antibodies were more prevalent in individuals suffering from

Environmental factors interact with the genome throughout life to determine gene expression and, consequently, tissue function and disease risk. One such factor that is known to play an important role in determining long-term metabolic health is diet during critical periods of development. Epigenetic regulation of gene expression has been implicated in mediating these programming effects of early

Abstract in UndeterminedIn many industries, a national accident investigation board conducts investigations following major accidents. For safety improvements to be achieved, however, it is essential that the recommendations presented in these investigations are followed by necessary actions. In this paper, challenges related to implementation of recommendations from accident investigations are st

Introduction: Hypoadiponectinaemia is an important risk factor for non-alcoholic fatty liver disease (NAFLD). However, little is known about its role in the Chinese population. This study sought to assess the prevalence of NAFLD and its association with hypoadiponectinaemia in middle-aged and elderly Chinese. Material and methods: We conducted a population-based cross-sectional study in an urban S