Technical University of Dortmund

About: Technical University of Dortmund is a education organization based out in Dortmund, Nordrhein-Westfalen, Germany. It is known for research contribution in the topics: Large Hadron Collider & Neutrino. The organization has 13028 authors who have published 27666 publications receiving 615557 citations. The organization is also known as: Dortmund University & University of Dortmund.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Abstract: Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies.

Search for electroweak production of supersymmetric particles in final states with two or three leptons at √s=13 TeV with the ATLAS detector

Abstract: A search for the electroweak production of charginos, neutralinos and sleptons decaying into final states involving two or three electrons or muons is presented. The analysis is based on 36.1 fb$^{-1}$ of $\sqrt{s}=13$ TeV proton–proton collisions recorded by the ATLAS detector at the Large Hadron Collider. Several scenarios based on simplified models are considered. These include the associated production of the next-to-lightest neutralino and the lightest chargino, followed by their decays into final states with leptons and the lightest neutralino via either sleptons or Standard Model gauge bosons, direct production of chargino pairs, which in turn decay into leptons and the lightest neutralino via intermediate sleptons, and slepton pair production, where each slepton decays directly into the lightest neutralino and a lepton. No significant deviations from the Standard Model expectation are observed and stringent limits at 95% confidence level are placed on the masses of relevant supersymmetric particles in each of these scenarios. For a massless lightest neutralino, masses up to 580 GeV are excluded for the associated production of the next-to-lightest neutralino and the lightest chargino, assuming gauge-boson mediated decays, whereas for slepton-pair production masses up to 500 GeV are excluded assuming three generations of mass-degenerate sleptons.

Development and validation of the predicted heat strain model

Abstract: Eight laboratories participated in a concerted research project on the assessment of hot working conditions. The objectives were, among others, to co-ordinate the work of the main European research teams in the field of thermal factors and to improve the methods available to assess the risks of heat disorders at the workplace, and in particular the "Required Sweat Rate" model as presented in International Standard ISO 7933 Standard (1989). The scientific bases of this standard were thoroughly reviewed and a revised model, called "Predicted Heat Strain" (PHS), was developed. This model was then used to predict the minute by minute sweat rates and rectal temperatures during 909 laboratory and field experiments collected from the partners. The Pearson correlation coefficients between observed and predicted values were equal to 0.76 and 0.66 for laboratory experiments and 0.74 and 0.59 for field experiments, respectively, for the sweat rates and the rectal temperatures. The change in sweat rate with time was predicted more accurately by the PHS model than by the required sweat rate model. This suggests that the PHS model would provide an improved basis upon which to determine allowable exposure times from the predicted heat strain in terms of dehydration and increased core temperature.