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Diamond-Blackfan anemia (DBA) is a rare congenital disease where the patients suffer from macrocytic anemia due to reduced numbers of erythroid precursors in the bone marrow. Most patients carry mutations in ribosomal proteins, such as ribosomal protein S19 (RPS19), which causes deficient ribosome biogenesis and affects protein translation. Ribosomal protein mutations also cause increased apoptosi
Prior studies suggest dental caries traits in children and adolescents are partially heritable, but there has been no large-scale consortium genome-wide association study (GWAS) to date. We therefore performed GWAS for caries in participants aged 2.5-18.0 years from nine contributing centres. Phenotype definitions were created for the presence or absence of treated or untreated caries, stratified
We describe and compare how methods based on the classical Rice’s formula for the expected number, and higher moments, of level crossings by a Gaussian process stand up to contemporary numerical methods to accurately deal with crossing related characteristics of the sample paths.We illustrate the relative merits in accuracy and computing time of the Rice moment methods and the exact numerical meth
Photovoltaics is amongst the most important technologies for renewable energy sources, and plays a key role in the development of a society with a smaller environmental footprint. Key parameters for solar cells are their energy conversion efficiency, their operating lifetime, and the cost of the energy obtained from a photovoltaic system compared to other sources. The optimization of these aspects
The ability to repair or promote regeneration within the adult human brain has been envisioned for decades. Until recently, such efforts mainly involved delivery of growth factors and cell transplants designed to rescue or replace a specific population of neurons, and the results have largely been disappointing. New approaches using stem-cell-derived cell products and direct cell reprogramming hav
Emergence of multiple-function products (MFPs) poses a variety of challenges and risks for achieving sustainable consumption and production as well as fair consumer society and universal design. We overviewed MFPs from these viewpoints and then, focusing on product standard as a means to create mechanisms to reduce environmental loads from products, elucidated advantages and limitation of five app
Disasters and climate change impacts, as well as increased water demand, pose serious risks to the provision of sustainable urban water services, e.g., drinking water, sanitation, and safe drainage, especially in cities. These challenges call for a transition toward improved water management, including considerations of “resilience.” However, because the resilience concept has multidisciplinary or
A key task in the emerging field of bioelectronics is the transduction between ionic/protonic and electronic signals at high fidelity. This is a considerable challenge since the two carrier types exhibit intrinsically different physics and are best supported by very different materials types - electronic signals in inorganic semiconductors and ionic/protonic signals in organic or bio-organic polym
Coincident with increased utilization of the Icelandic highlands, its image as a unique and pristine wilderness is gradually changing. People’s perception of wilderness is influenced by a number of factors relating to their culture and socio-economic background. Furthermore, how people value pristine land or define wilderness varies depending on the location and function of the assessment. Therefo
The purpose of this article is to provide guidance regarding the cleaning and disinfection of transvaginal ultrasound probes. These recommendations are also applicable to transrectal probes.
We report on the influence of doping on the band-edge abruptness of InAs/GaSb p-n and p-i-n tunnel diodes. Understanding and fabrication of a well-defined and sharp band edge is mandatory for tunnel FET operation. InAs/GaSb nanowire junctions were selectively grown by metal organic chemical vapor deposition (MOCVD) on silicon-on-insulator (SOI) substrates using template assisted selective epitaxy
This chapter presents a flexible platform that supports prototyping up to 20 MHz bandwidth 128-antenna multiple input, multiple output (MIMO). It devotes theory, design, implementation, and prototyping of Massive MIMO for 5G communication systems. The chapter overviews the principles and theory of Massive MIMO. It describes the channel modeling system with a focus on specific phenomena of large sc
We model theoretically a two-dimensional electron gas (2DEG) covered by a superconductor and demonstrate that topological superconducting channels are formed when stripes of the superconducting layer are removed. As a consequence, Majorana bound states (MBSs) are created at the ends of the stripes. We calculate the topological invariant and energy gap of a single stripe, using realistic values for
Strongly interacting one-dimensional (1D) Bose-Fermi mixtures form a tunable XXZ spin chain. Within the spin-chain model developed here, all properties of these systems can be calculated from states representing the ordering of the bosons and fermions within the atom chain and from the ground-state wave function of spinless noninteracting fermions. We validate the model by means of an exact diagon
