1,180 results match your criteria: "the Cyprus Institute[Affiliation]"
Eur J Hum Genet
July 2024
Medizinisch Genetisches Zentrum (MGZ) München, Munich, Germany.
J Am Chem Soc
June 2024
Aerosol Physics Laboratory, Physics Unit, Faculty of Engineering and Natural Sciences, Tampere University, 33720 Tampere, Finland.
Sulfur trioxide (SO) is an important oxide of sulfur and a key intermediate in the formation of sulfuric acid (HSO, SA) in the Earth's atmosphere. This conversion to SA occurs rapidly due to the reaction of SO with a water dimer. However, gas-phase SO has been measured directly at concentrations that are comparable to that of SA under polluted mega-city conditions, indicating gaps in our current understanding of the sources and fates of SO.
View Article and Find Full Text PDFSci Adv
May 2024
T.H. Chan School of Public Health, Harvard University, Boston, MA 02115, USA.
The world is undergoing massive atmospheric and ecological change, driving unprecedented challenges to human well-being. Olfaction is a key sensory system through which these impacts occur. The sense of smell influences quality of and satisfaction with life, emotion, emotion regulation, cognitive function, social interactions, dietary choices, stress, and depressive symptoms.
View Article and Find Full Text PDFNanomaterials (Basel)
April 2024
Department of Nanoinformatics, NovaMechanics Ltd., Nicosia 1046, Cyprus.
(1) Background: Despite the encouraging indications regarding the suitability (biocompatibility) of iron carbide nanoparticles (ICNPs) in various biomedical applications, the published evidence of their biosafety is dispersed and relatively sparse. The present review synthesizes the existing nanotoxicological data from in vitro studies relevant to the diagnosis and treatment of cancer. (2) Methods: A systematic review was performed in electronic databases (PubMed, Scopus, and Wiley Online Library) on December 2023, searching for toxicity assessments of ICNPs of different sizes, coatings, and surface modifications investigated in immortalized human and murine cell lines.
View Article and Find Full Text PDFPhys Chem Chem Phys
May 2024
Climate & Atmosphere Research Centre, The Cyprus Institute, 20 Konstantinou Kavafi Street, Nicosia 2121, Cyprus.
Experimental evidence shows that hydroxylated metal ions are often produced during cluster synthesis by atmospheric pressure spark ablation. In this work, we predict the ground state equilibrium structures of AgOH clusters ( and = 1-4), which are readily produced when spark ablating Ag, using the coupled cluster with singles and doubles (CCSD) method. The stabilization energy of these clusters is calculated with respect to the dissociation channel having the lowest energy, by accounting perturbative triples corrections to the CCSD method.
View Article and Find Full Text PDFMol Ther Nucleic Acids
June 2024
Molecular Genetics of Thalassemia Department, The Cyprus Institute of Neurology & Genetics, 6 Iroon Avenue, Agios Dometios, Nicosia 2371, Cyprus.
β-Thalassemia is brought about by defective β-globin (HBB [hemoglobin subunit β]) formation and, in severe cases, requires regular blood transfusion and iron chelation for survival. Genome editing of hematopoietic stem cells allows correction of underlying mutations as curative therapy. As potentially safer alternatives to double-strand-break-based editors, base editors (BEs) catalyze base transitions for precision editing of DNA target sites, prompting us to reclone and evaluate two recently published adenine BEs (ABEs; SpRY and SpG) with relaxed protospacer adjacent motif requirements for their ability to correct the common splice mutation.
View Article and Find Full Text PDFMol Genet Metab Rep
June 2024
Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).
View Article and Find Full Text PDFJ Environ Radioact
June 2024
Laboratory of Atoms Lasers, Department of Physics, Faculty of Sciences and Techniques, University Cheikh Anta Diop, Dakar, 5005, Senegal; Senegalese Nuclear Safety and Security Regulatory Authority, Senegal.
Radionuclides from the reactor accident Fukushima Daiichi nuclear power plant were observed in the airborne aerosols at CTBT International Monitoring System (IMS) stations (MRP43, CMP13) in Africa. The maximum activity concentrations in the air measured in Mauritania were 186.44 10 Bq.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
May 2024
Laboratory of Epigenetics and Gene Regulation, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
Neurol Genet
June 2024
From the Neurogenetics Department (C.V., P.N., K.C.); Bioinformatics Department (M.T.); Neuroimmunology Department (M.C.P., G.P.); Neuroepidemiology Department (A.A.); Neuroscience Department and Center for Neuromascular Disorders (K.A.K.); and Neuroepidemiology Department and Center for Neuromascular Disorders (E.Z.-P.), The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Background And Objectives: The intronic biallelic AAGGG expansion in the replication factor C subunit 1 () gene was recently associated with a phenotype combining cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, as well as with late-onset ataxia. Following this discovery, studies in multiple populations extended the phenotypic and genotypic spectrum of this locus. Multiple benign and additional pathogenic configurations are currently known.
View Article and Find Full Text PDFMol Biol Rep
April 2024
Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Background: Boucher Neuhäuser Syndrome (BNS) is a rare disease with autosomal recessive inheritance defined by the classical triad; early-onset ataxia, hypogonadism and chorioretinal dystrophy.
Case Presentation: We present two siblings diagnosed with BNS at midlife, identified with homozygous state of a novel PNPLA6 missense mutation. One healthy sibling and the mother were heterozygous carriers of the mutation.
Phys Rev Lett
April 2024
Goethe-Universität Frankfurt am Main, Institut für Theoretische Physik, Max-von-Laue-Straße 1, D-60438 Frankfurt am Main, Germany.
We present the first determination of the energy dependence of the B-D[over ¯] and B^{*}-D[over ¯] isospin-0, S-wave scattering amplitudes both below and above the thresholds using lattice QCD, which allows us to investigate rigorously whether mixed bottom-charm b[over ¯]c[over ¯]ud tetraquarks exist as bound states or resonances. The scattering phase shifts are obtained using Lüscher's method from the energy spectra in two different volumes. To ensure that no relevant energy level is missed, we use large, symmetric 7×7 and 8×8 correlation matrices that include, at both source and sink, B^{(*)}-D[over ¯] scattering operators with the lowest three or four possible back-to-back momenta in addition to local b[over ¯]c[over ¯]ud operators.
View Article and Find Full Text PDFBreast Cancer Res Treat
July 2024
Department of Epidemiology, University of Washington, Seattle, WA, USA.
Purpose: Mammographic density phenotypes, adjusted for age and body mass index (BMI), are strong predictors of breast cancer risk. BMI is associated with mammographic density measures, but the role of circulating sex hormone concentrations is less clear. We investigated the relationship between BMI, circulating sex hormone concentrations, and mammographic density phenotypes using Mendelian randomization (MR).
View Article and Find Full Text PDFOrphanet J Rare Dis
April 2024
Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
PLoS Comput Biol
April 2024
The Cyprus Institute of Neurology & Genetics, Bioinformatics Department, Nicosia, Cyprus.
Prioritization or ranking of different cell types in a single-cell RNA sequencing (scRNA-seq) framework can be performed in a variety of ways, some of these include: i) obtaining an indication of the proportion of cell types between the different conditions under study, ii) counting the number of differentially expressed genes (DEGs) between cell types and conditions in the experiment or, iii) prioritizing cell types based on prior knowledge about the conditions under study (i.e., a specific disease).
View Article and Find Full Text PDFACS Biomater Sci Eng
May 2024
Department of Mechanical and Construction Engineering, Northumbria University, Ellison place, Newcastle upon Tyne NE1 8ST, U.K.
Ti-Au intermetallic-based material systems are being extensively studied as next-generation thin film coatings to extend the lifetime of implant devices. These coatings are being developed for application to the articulating surfaces of total joint implants and, therefore, must have excellent biocompatibility combined with superior mechanical hardness and wear resistance. However, these key characteristics of Ti-Au coatings are heavily dependent upon factors such as the surface properties and temperature of the underlying substrate during thin film deposition.
View Article and Find Full Text PDFEnviron Int
April 2024
Climate and Atmosphere Research Center (CARE-C), the Cyprus Institute, Nicosia, 2121, Cyprus.
Greater Cairo, the largest megacity of the Middle East North Africa (MENA) region, is currently suffering from major aerosol pollution, posing a significant threat to public health. However, the main sources of pollution remain insufficiently characterized due to limited atmospheric observations. To bridge this knowledge gap, we conducted a continuous 2-month field study during the winter of 2019-2020 at an urban background site, documenting for the first time the chemical and physical properties of submicron (PM) aerosols.
View Article and Find Full Text PDFEnviron Sci Technol
April 2024
Department of Physics, Lund University, Professorsgatan 1, Lund SE-22363, Sweden.
bioRxiv
March 2024
Bioinformatics Department, The Cyprus Institute of Neurology and Genetics.
Immediate-early genes (IEGs) are a class of activity-regulated genes (ARGs) that are transiently and rapidly activated in the absence of de novo protein synthesis in response to neuronal activity. We explored the role of IEGs in genetic networks to pinpoint potential drug targets for Alzheimer's disease (AD). Using a combination of network analysis and genome-wide association study (GWAS) summary statistics we show that (1) IEGs exert greater topological influence across different human and mouse gene networks compared to other ARGs, (2) ARGs are sparsely involved in diseases and significantly more mutational constrained compared to non-ARGs, (3) Many AD-linked variants are in ARGs gene regions, mainly in near FOSB, with an AD risk eQTL that increases expression in cortical areas, (4) holds an influential place in a dense AD multi-omic network and a high AD druggability score.
View Article and Find Full Text PDFSci Total Environ
June 2024
Université Clermont Auvergne, Laboratoire de Météorologie Physique, OPGC/CNRS UMR 6016, Clermont-Ferrand, France. Electronic address:
Terpenoids have long been known to originate from natural sources. However, there is growing evidence for emissions from anthropogenic activities in cities, in particular from the production, manufacturing, and use of household solvents. Here, as part of the DATAbASE (Do Anthropogenic Terpenoids mAtter in AtmoSpheric chEmistry?) project, we investigate for the first time the potential role of industrial activities on the terpenoid burden in the urban atmosphere.
View Article and Find Full Text PDFSci Total Environ
June 2024
The Cyprus Institute, 20 Konstantinou Kavafi, Nicosia, 1645 Nicosia, Cyprus; Max Plank Institute, Hahn-Meitner-Weg, Mainz 55128, Rhineland-Palatinate, Germany.
The ongoing energy transition from conventional fuels to renewable energy sources (RES) has given nations the potential to achieve levels of energy self-sufficiency previously thought unattainable. RES in the form of utility-scale solar and wind energy are currently the leading alternatives to fossil-fuel generation. Precise location siting that factors in efficiency limitations related to current and future climate variables is essential for enabling the green energy transition envisioned for 2050.
View Article and Find Full Text PDFEnviron Pollut
June 2024
Emissions, Measurements, and Modeling of the Atmosphere (EMMA) Laboratory, CAR, Faculty of Sciences, Saint Joseph University, Beirut, Lebanon; Climate and Atmosphere Research Center, The Cyprus Institute, Nicosia, Cyprus.
Highly resolved measurements of primary and secondary oxygenated volatile organic compounds (OVOCs) by proton-transfer-reaction mass spectrometry (PTR-MS) and the AMOVOC sampler (Airborne Measurements Of VOC) were performed in Beirut, Lebanon, during the ECOCEM (Emissions and Chemistry of Organic Carbon in the East Mediterranean) experiments. The OVOC concentrations (0.15-7.
View Article and Find Full Text PDFJ Pers Med
March 2024
Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus, 70010 Valenzano, Italy.
Personalized medicine is defined as a medical model using the characterization of individuals' phenotypes and genotypes (e [...
View Article and Find Full Text PDFBMC Med Genomics
March 2024
Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683, Nicosia, Cyprus.
Background: Dihydropyrimidine dehydrogenase (DPD), is the initial and rate-limiting enzyme in the catabolic pathway of pyrimidines. Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disability, motor retardation, developmental delay and seizures.
View Article and Find Full Text PDFJ Chem Phys
March 2024
Computation-Based Science and Technology Research Center, The Cyprus Institute, Aglantzia 2121, Nicosia Cyprus.
We present a detailed computational study on the temperature effect of the dynamics and the interfacial width of unentangled cis-1,4 polybutadiene linear chains confined between strongly attractive alumina layers via long, several μs, atomistic molecular dynamics simulations for a wide range of temperatures (143-473 K). We examine the spatial gradient of the translational segmental dynamics and of an effective local glass temperature (TgL). The latter is found to be much higher than the bulk Tg for the adsorbed layer.
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