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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotat
The 2021 Updated European Association of Urology Guidelines on Renal Cell Carcinoma : Immune Checkpoint Inhibitor–based Combination Therapies for Treatment-naive Metastatic Clear-cell Renal Cell Carcinoma Are Standard of Care
The recent randomized controlled phase III CLEAR trial results are the last to complement immune checkpoint inhibitor (ICI)-based doublet combination therapies for treatment-naïve metastatic clear-cell renal cell carcinoma. The CLEAR trial demonstrated an improved progression-free survival (PFS), overall survival (OS), and an objective response rate (ORR) benefit for the combination of lenvatinib
How to responsibly acknowledge research work in the era of big data and biobanks : ethical aspects of the Bioresource Research Impact Factor (BRIF)
Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While many resources are being invested to ensure that comprehensive and well-organised biobanks are able to provide increased access to, and sharing of biomedical samples and information
DeveLoP—A Rationale and Toolbox for Democratic Landscape Planning
A rationale for an individuals-oriented landscape approach to sustainable land-use planning based on an analysis of bio-geo-physical components as well as the human components of the landscape is presented. A toolbox for analysing individuals’ decision-making and valuations in the landscape is described. The toolbox can provide evidence on the drivers of individuals’ decision-making in the landsca
Whole-genome sequencing in newborn screening? : A statement on the continued importance of targeted approaches in newborn screening programmes
The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and othe
Is There a Right Time to Know? : The Right Not to Know and Genetic Testing in Children
The increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-toconsumers has increased the availability of previously inaccessible genetic information. A particular concern in both situations is how the volume of novel information will affect the processing of genetic and genomic information from minor
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Plastic extension of Breviario de espejismos by Elena Mendoza. Glued paper, two speakers, amplifier, video, tablet, LED light, photographic montage, four metal supports, fishing line, metal strings, two wooden boxes, two mixed metal-wooden supports.
Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit
Background: The aim of this study was to identify factors predicting outcome in patients with mitochondrial disease admitted to pediatric intensive care units (PICU). Methods: Retrospective study of 2434 patients (age
New considerations on the proper study of Man - And, marginally, some other animals
In Order to differentiate the semiotic capadties of animals and human beings we need to understand more exactly wfaat these properties are. Instead of identifymg all vehicles of meaning with signs, we certainly have to spedfy the notion of sign, but it will also be necessaty to provide an inventory of other kinds of meaning, staiting out from perception, and going through a number of intermediate
Growth, stability, and electronic decoupling of Pt clusters on h-BN/Ir(111)
Motivated by the relevance of Pt clusters in heterogeneous catalysis, ordered Pt cluster superlattices are templated by the moiré of monolayer hexagonal boron nitride (h-BN) with Ir(111). Using X-ray photoelectron spectroscopy, scanning tunneling microscopy, and scanning tunneling spectroscopy, we provide a comprehensive picture for the mechanism of cluster binding, the thermal stability of cluste
Individual Patient Data Meta-analysis of Discrimination of the Four Kallikrein Panel Associated With the Inclusion of Prostate Volume
Objective: To assess whether adding prostate volume to the kallikrein panel improves discrimination for ISUP Grade Group 2 or higher (GG2+) disease, as some men may have volume measurements available at the time of blood draw. While prostate volume predicts biopsy outcome, it requires an imaging procedure for measurement. The four kallikrein panel - commercially available as the 4Kscore - predicts
Fungal extracellular polymeric substance matrices – Highly specialized microenvironments that allow fungi to control soil organic matter decomposition reactions
Filamentous fungi play a key role in the terrestrial carbon cycle as they are the primary decomposers of lignocellulose in soil organic matter (SOM). Fungi secrete a wide range of oxidative and hydrolytic enzymes, and generate radicals through extracellular secondary metabolites to decompose SOM. To study fungal decomposition of SOM, the activities of isolated enzymes are typically studied as prox
The art(s) of getting lost : Halting places for culturally responsive research methods
This chapter revisits the ideas of radical empiricism and sensuous scholarship, embedded in current music education research. Focusing on the development of methodological implications of cultural responsiveness and arts-based research methods, the chapter argues for epistemic openness. The discussion is located within the author’s own experiences of course development for Swedish music teacher st
Updated European Association of Urology Guidelines on Renal Cell Carcinoma : Nivolumab plus Cabozantinib Joins Immune Checkpoint Inhibition Combination Therapies for Treatment-naïve Metastatic Clear-Cell Renal Cell Carcinoma
Longer follow-up and new trial data from phase 3 randomised controlled trials investigating immune checkpoint blockade (PD-1 or its ligand PD-L1) in advanced clear-cell renal cell carcinoma (RCC) have recently become available. The CheckMate 9ER trial demonstrated an improved progression-free survival (PFS) and overall survival (OS) benefit for the combination of cabozantinib plus nivolumab. A Key
The vitamin D receptor (VDR) start codon polymorphism in primary hyperparathyroidism and parathyroid VDR messenger ribonucleic acid levels
Vitamin D regulates parathyroid cell proliferation and secretion of PTH. Increased prevalence of the polymorphic vitamin D receptor (VDR) alleles b, a, and T has been reported in sporadic primary hyperparathyroidism (PHPT), suggesting that these genetic variants may predispose to the disease. Recently, another polymorphism in the VDR gene was related to bone mineral density, and this VDR-FokI poly