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Genetic variation can modulate gene expression, and thereby phenotypic variation and susceptibility to complex diseases such as type 2 diabetes (T2D). Here we harnessed the potential of DNA and RNA sequencing in human pancreatic islets from 89 deceased donors to identify genes of potential importance in the pathogenesis of T2D. We present a catalog of genetic variants regulating gene expression (e

Background: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same mutation suggests the existence of genetic and non-genetic modifying factors. In this study we evaluated the putative role of variants in many candidate modifier genes. Methods: Genot

Selective activation of the estrogen receptor (ER) could be a safe approach to hormone replacement therapy for both women and men, in contrast to the estrogens currently used for women which activate both ER and ER, occasionally causing severe side effects. cis-10-SR, was shown to have an EC50 value of <1nM, potency 100-fold higher than that of AC-131. Even more interestingly, compound trans-10-SS

A recent high-resolution α, X-ray, and γ-ray coincidence-spectroscopy experiment offered the first glimpse of excitation schemes of isotopes along α-decay chains of Z=115. To understand these observations and to make predictions about shell structure of superheavy nuclei below 288-115, we employ two complementary mean-field models: the self-consistent Skyrme energy density functional approach and

Background: Several studies have examined leukocyte telomere length (LTL) as a possible predictor for cancer at various organ sites. The hypothesis originally motivating many of these studies was that shorter telomeres would be associated with an increase in cancer risk, the results of epidemiologic studies have been inconsistent, however, and suggested positive, negative, or null associations. Tw

Background: The pathogenesis of COPD is complex and remains poorly understood. The European Respiratory Society Study on Chronic Obstructive Pulmonary Disease (EUROSCOP) investigated long-term effects of budesonide; 18% of the COPD participants were atopic. So far effects of atopy on the long-term course of COPD have not been elucidated. Methods: Factors related to the presence of atopy (positive

It is of highest importance to find proteins responsible for breast cancer dissemination, for use as biomarkers or treatment targets. We established and performed a combined nontargeted LC MS/MS and a targeted LC SRM workflow for discovery and validation of protein biomarkers. Eighty breast tumors, stratified for estrogen receptor status and development of distant recurrence (DR +/-), were collect

Abstract in UndeterminedReference attribute grammars (RAGs) provide a practical declarative means to implement programming language compilers and other tools. RAGs have previously been extended to support both circular attributes and context-dependent declarative rewrites of the abstract syntax tree. In this previous work, dependencies between circular attributes and rewrites are not considered. I

Objective: We sought to determine whether the serological response towards lytic cycle antigens of Epstein Barr virus (EBV) is altered in systemic lupus erythematosus (SLE) patients. Method: We used enzyme-linked immunosorbent assay (ELISA) to investigate the prevalence of EBV early antigen diffuse (EBV-EA/D) antibodies in sera from 60 patients with SLE, 40 with scleroderma (SSc), 20 with primary

VOR, the versatile optimal resolution chopper spectrometer, is designed to probe dynamic phenomena that are currently inaccessible for inelastic neutron scattering due to flux limitations. VOR is a short instrument by the standards of the European Spallation Source (ESS), 30.2m moderator to sample, and provides instantaneous access to a broad dynamic range, 1-120 meV within each ESS period. The sh

We consider the problem of approximating a given function in two dimensions by a sum of exponential functions, with complex-valued exponents and coefficients. In contrast to Fourier representations where the exponentials are fixed, we consider the nonlinear problem of choosing both the exponents and coefficients. In this way we obtain accurate approximations with only few terms. Our approach is bu

We study stability of a growth process generated by sequential adsorption of particles on a one-dimensional lattice torus, that is, the process formed by the numbers of adsorbed particles at lattice sites, called heights. Here the stability of process, loosely speaking, means that its components grow at approximately the same rate. To assess stability quantitatively, we investigate the stochastic

Background: Airway remodeling in COPD includes reorganization of the extracellular matrix. Proteoglycans play a crucial role in this process as regulators of the integrity of the extracellular matrix. Altered proteoglycan immunostaining has been demonstrated in COPD lungs and this has been suggested to contribute to the pathogenesis. The major cell type responsible for production and maintenance o

The purpose of this study was to investigate whether cerebrospinal fluid (CSF) levels of tau, phosphorylated tau, β-amyloid42 , α-synuclein, neurofilament light, and YKL-40 change over time and if changes correlate with motor progression and/or cognitive decline in patients with PD and controls.

We report the first large series (n=596) of pediatric acute myeloid leukemia (AML) focusing on modal numbers (MN) from the population-based NOPHO-AML trials. Abnormal karyotypes were present in 452 cases (76%) and numerical aberrations were present in 40% (n=237) of all pediatric AML. Among patients with an abnormal karyotype, the MN 46 was most common (n=251; 56%) of which 36 (8%) were pseudodipl

Risk of type 2 diabetes mellitus (T2DM) differs according to ethnicity. Levels of apolipoprotein M (ApoM) have been shown to be decreased in T2DM. However, its role in different ethnicities is not known. We examined the differences in plasma ApoM levels in Swedish residents born in Iraq (Iraqis) and Sweden (Swedes) in relation to T2DM and insulin resistance (IR).

High interstitial fluid pressure (IFP) in colorectal cancer metastases may decrease the uptake and, thus, the effects of anti-tumor drugs. Imatinib, a selective inhibitor of PDGF receptors, and anakinra, an interleukin-1 receptor antagonist, respectively, increase drug uptake and/or decrease IFP in preclinical models of carcinoma. Drug-induced decrease in IFP in human metastases has not been objec

To review and update the evidence on predictors of poor outcome (death, persistent vegetative state or severe neurological disability) in adult comatose survivors of cardiac arrest, either treated or not treated with controlled temperature, to identify knowledge gaps and to suggest a reliable prognostication strategy. GRADE-based systematic review followed by expert consensus achieved using Web-ba

Fertility rates have dramatically decreased in the last two decades, especially in men. It has been described that environmental factors as well as life habits may affect semen quality. In this paper we use artificial intelligence techniques in order to predict semen characteristics resulting from environmental factors, life habits, and health status, with these techniques constituting a possible