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Miller syndrome is a rare Mendelian disorder caused by mutations in the gene encoding human dihydroorotate dehydrogenase (DHODH). Human DHODH, a Class II DHODH, is an integral protein of the inner mitochondrial membrane (IMM) catalyzing the fourth step of the de novo pyrimidine biosynthesis pathway. Here we present a summary of the state of knowledge regarding Miller syndrome in the absence of any

Human dihydroorotate dehydrogenase (DHODH) catalyzes the fourth step of the de novo pyrimidine biosynthesis pathway and uses ubiquinone Q10, a lipophilic molecule located in the inner mitochondrial membrane (IMM), as its co-substrate. DHODH is anchored to the IMM by a single transmembrane helix located at its N-terminus. Nevertheless, how DHODH function is determined by its surrounding membrane en

Efter många år av arbete med tillgänglighet till produkter, tjänster, program och miljöer förpersoner med funktionsnedsättningar pågår nationellt och internationellt ett skifte i synsättfrån arbete med tillgänglighet för särskilda grupper till inkluderande design som har allamänniskor som målgrupp, så kallad Universell utformning (UU) eller Universal Design (UD)som det heter på engelska. En viktig

de senaste fem åren har begreppet universellutformning fått ett allt större genomslag i den svenskafunktionshinderpolitiken. En viktig anledning till detta är att Sverige ratificerade den så kalladefunktionsrättskonventionen år 2008. I konventionenförs universell utformning fram som huvudprincip ochnationellt åtagande för allt nytt som skapas i samhället.Det innebär att alla nya produkter, varor,

När Certec i år arrangerar ”Certec informerar” för 25:e gången firar vi det genom att i bild och text ge bort en tankebok med 25 viktiga tankar och tankesätt som vuxit fram under åren som gått.Att skapa ny kunskap tar tid. När vi till vardags håller på med att skapa användvärd teknik genom människonära design är det sällan någon quick fix. Bakom uppnådda resultat finns det en ständigt pågående teo

The European Spallation Source (ESS) is a neutron-based research facility under construction in Lund in southern Sweden. The spallation reactions will generate not only the desired neutrons, but also many radioactive byproducts, including 14C. As part of the licensing process, and as recommended by the IAEA, various preoperational studies are being carried out, including mapping the “zero-point” r

Objective: To determine incidence rate and predictors of venous thromboembolic events (VTE) in a population-based cohort with ANCA-associated vasculitis (AAV). Methods: The study comprised 325 patients diagnosed with AAV from 1997 to 2016. All cases of VTE from prior to vasculitis diagnosis to the end of the study period were identified. The BVAS was used to assess disease activity at diagnosis. V

Individuals with rapidly progressing atherosclerotic plaques are at higher risk of experiencing acute complications. Currently, we lack knowledge regarding factors in human plaque that cause rapid progression. Using the 14C bomb-pulse dating method, we assessed the physical age of atherosclerotic plaques and which biological processes were associated with rapidly progressing plaques. Interestingly

Bio-based 5-hydroxymethylfurfural (HMF) serves as an important platform for several chemicals, among which 2,5-furan dicarboxylic acid (FDCA) has attracted considerable interest as a monomer for the production of polyethylene furanoate (PEF), a potential alternative for fossil-based polyethylene terephthalate (PET). This study is based on the HMF oxidizing activity shown by Mycobacterium sp. MS 16

A robust water supply system is significant to the local ecosystem of riparian vegetation in the arid basin. Considering the elasticity and relative importance of ecological water use in different regions of the basin, this study defines the ecological water rights on a multi-year scale, divides the priority of those rights based on the ecological network, and proposes a rights allocation method.

Redogörelse för de tidiga lundensiska (och i någon mån uppsaliensiska) studenthemmens tillkomst kopplad till en biografisk skiss över den förste "hemiten" (boende på Thomanders studenthem), Emil Sommarin, respektive ett resonemang huruvida denne kan ses som en "typisk" hemit.

The effect of instantaneous spectral diffusion (ISD) on gate operations in rare-earth-ion-doped crystals is an important question to answer for the future of rare-earth quantum computing. Here we present a microscopic modeling that highlights the stochastic nature of the phenomenon and use it to investigate ISD errors on single-qubit gate operations. Furthermore, we present a method to estimate th

We present two protocols for constructing quantum processor nodes in randomly doped rare-earth-ion crystals and analyze their properties. By varying the doping concentration and the accessible laser tunability, the processor nodes can contain anywhere from only a few tens to almost 1000 qubits. Furthermore, the average number of qubits each qubit can interact with, denoted by the connectivity, can

This paper explores the processing of sensitive personal data for genealogical purposes by studying how the privacy policies of three direct-to-consumer genetic testing companies relate to the general Data Protection Regulation (GDPR). The methodological approach is content analysis. The privacy policies are analysed in relation to the three core principles of 1) adherence to GDPR; 2) transparent

The purpose of this study is to explore how nationalism shapes the public perception of multinational corporations’ crises on Chinese social media. Using qualitative content analysis, this study examines 1,000 public comments from the top 10 hashtag posts and explores the interaction between nationalist expression (i.e., content and sentiment of nationalism) and the public’s perception of the Unit