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In osteopetrosis, osteoclast dysfunction can lead to deafness, blindness, bone marrow failure, and death. Hematopoietic cell transplantation (HCT) is currently the only curative treatment, but outcome remains disappointing. Although a rapid progression toward HCT is detrimental to prevent further progress of disease manifestations, 70% of cases lack an HLA-matched sibling and require alternative s

Retinitis pigmentosa (RP), an inherited blinding disease, is caused by a variety of different mutations that affect retinal photoreceptor function and survival. So far there is neither effective treatment nor cure. We have previously shown that poly(ADP-ribose)polymerase (PARP) acts as a common and critical denominator of cell death in photoreceptors, qualifying it as a potential target for future

This paper presents a search for massive charged long-lived particles produced in pp collisions at s=13 TeV at the LHC using the ATLAS experiment. The data set used corresponds to an integrated luminosity of 3.2 fb-1. Many extensions of the Standard Model predict the existence of massive charged long-lived particles, such as R-hadrons. These massive particles are expected to be produced with a vel

A search for singly produced vector-like Q quarks, where Q can be either a T quark with charge + 2 / 3 or a Y quark with charge - 4 / 3 , is performed in proton–proton collisions recorded with the ATLAS detector at the LHC. The dataset corresponds to an integrated luminosity of 20.3 fb- 1 and was produced with a centre-of-mass energy of s=8 TeV. This analysis targets Q→ Wb decays where the W boson

Background Late blight (caused by Phytophthora infestans) is a devastating potato disease that has been found to occur earlier in the season over the last decades in Fennoscandia. Up until now the reasons for this change have not been investigated. Possible explanations for this change are climate alterations, changes in potato production or changes in pathogen biology, such as increased fitness o

Three episodes of Paleoproterozoic magmatism with distinctively different nature in the Liaoji belt of the Eastern North China Craton are discussed here: the 2200–2140 Ma Liaoji A-type granites, the 2160–2110 Ma Haicheng mafic sills and the ∼1890 Ma Qingchengzi I-type granites. The Mafeng monzogranitic pluton, representative of the Liaoji A-type granites, gives a SIMS U-Pb zircon age of 2181 ± 6 M

A search for W′bosons in events with one lepton (electron or muon) and missing transverse momentum is presented. The search uses 3.2 fb−1of pp collision data collected at s=13 TeV by the ATLAS experiment at the LHC in 2015. The transverse mass distribution is examined and no significant excess of events above the level expected from Standard Model processes is observed. Upper limits on the W′boson

Introduction Proximity and access to water have long been central to human culture and accordingly deliver countless societal benefits. Over 200 million people live on Europe's coastline, and aquatic environments are the top recreational destination in the region. In terms of public health, interactions with 'blue space' (eg, coasts, rivers, lakes) are often considered solely in terms of risk (eg,

Objectives: Anxiety and depression symptoms are more common in patients with spondyloarthritis (SpA) than in the general population. This study describes prognostic factors for change in self-reported anxiety and depression over 2 years in a well-defined SpA cohort. Method: In 2009, 3716 adult patients from the SpAScania cohort received a postal questionnaire to assess quality of life (QoL) and ph

I present an alternative to a widely used item-bias analysis procedure known as the ANOVA method. The new method is based on the Johnson-Neyman procedure, which is a multiple regression-based technique with properties that can overcome the major weaknesses of the ANOVA method. I introduce the proposed procedure in a non-technical manner, provide an illustrative example, and suggest guidelines for

This paper presents a study of WWγ and WZγ triboson production using events from proton–proton collisions at a centre-of-mass energy of s=8TeV recorded with the ATLAS detector at the LHC and corresponding to an integrated luminosity of 20.2 fb- 1. The WWγ production cross-section is determined using a final state containing an electron, a muon, a photon, and neutrinos (e). Upper limits on the prod

Plants produce many bioactive, specialized metabolites to defend themselves when facing various stress situations. Their biosynthesis is directed by a tightly controlled regulatory circuit that is elicited by phytohormones such as jasmonate (JA). The basic helix-loop-helix (bHLH) transcription factors (TFs) bHLH iridoid synthesis 1 (BIS1) and Triterpene Saponin Activating Regulator (TSAR) 1 and 2,

utomotive systems offer a rich opportunity for hybrid models, controls, and tools. Beyond the traditional use of hybrid models for representing the behavior of the composition of discrete controller and continuous plants, automotive mechanical systems exhibit hybrid behavior as demonstrated in this chapter. In addition, hybrid systems can be used to capture system specifications at the highest lev

The current research focuses in understanding how inlet pressure, EGR, combustion phasing, engine speed and pilot main ratio are affecting the main parameters of the combustion (e.g. efficiency, NOx, soot, maximum pressure rise rate) in the novel concept of injecting high octane number fuels in partially premixed combustion. The influence of the above mentioned parameters was studied by performing

Using alternative fuels like Natural Gas (NG) has shown good potentials on heavy duty engines. Heavy duty NG engines can be operated either lean or stoichiometric diluted with EGR. Extending Dilution limit has been identified as a beneficial strategy for increasing efficiency and decreasing emissions. However dilution limit is limited in these types of engines because of the lower burnings rate of

The behavior of Ethanol and seven fuels in the boiling point range of gasoline but with an Octane Number spanning from 69 to 99 was investigated in Partially Premixed Combustion. A load sweep was performed from 5 to 18 bar gross IMEP at 1300 rpm. The engine used in the experiments was a single cylinder Scania D12. To allow high load operations and achieve sufficient mixing, the compression ratio w

It is tractable to increase the torque for an HCCI engine and one way is to add a turbocharger. Operating in HCCI mode requires accurate control of the combustion phasing, CA50. The higher the engine torque, the narrower the CA50 window becomes where HCCI operation is maintained. As the CA50 varies stochastically between cycles this requires improved CA50 control for turbo HCCI engines. The main f