1,180 results match your criteria: "the Cyprus Institute[Affiliation]"

Article Synopsis
  • A study compared the ABC and ACMG variant classification systems using 10 challenging cases, involving 43 European clinical laboratories, to determine how each system influences variant reporting and clinical utility.
  • Although the ACMG system is primarily for assessing pathogenicity rather than reporting, it still affects reporting in many labs, leading to some noted differences in how variants are classified and communicated.
  • The comparison revealed that ABC-based classifications tend to be clearer and more adaptable to clinical questions, allowing for more context-appropriate reporting of variants, unlike ACMG which can mislabel variants in certain clinical scenarios.
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Direct Measurements of Covalently Bonded Sulfuric Anhydrides from Gas-Phase Reactions of SO with Acids under Ambient Conditions.

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.

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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.

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(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.

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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.

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Context base editing for splice correction of IVSI-110 β-thalassemia.

Mol 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.

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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%).

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Radioactivity of the atmospheric aerosols detected by CTBTO stations in Africa following the accident at the Fukushima Daiichi nuclear power plant.

J 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.

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Transcriptomic analysis reveals sex-specific patterns in the hippocampus in Alzheimer's disease.

Front Endocrinol (Lausanne)

May 2024

Laboratory of Epigenetics and Gene Regulation, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.

Article Synopsis
  • The study focuses on the hippocampus, a brain region crucial for memory and learning, highlighting sex differences in Alzheimer's Disease (AD) susceptibility, particularly noting that women are at twice the risk compared to men.
  • Through analysis of postmortem mRNA samples, researchers compared gene expressions in males and females, both healthy and those with AD, to identify sex-specific molecular signatures in the hippocampus.
  • Results revealed distinct gene expression patterns related to neurogenesis and synaptic function between sexes, including upregulation of amyloid-related enzymes in males and varying effects on synaptic pathways between male and female AD subjects.
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Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.

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.

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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.

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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.

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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).

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Article Synopsis
  • The report highlights the activities of the Molecular Genetics-Function and Therapy (MGFT) department at the Cyprus Institute of Neurology and Genetics, emphasizing its role as a Reference Center for the European Network on Rare Endocrine Conditions (Endo-ERN).
  • Over 15 years of collaboration has resulted in more than 2000 genetic tests performed for diagnosing rare inherited endocrine disorders, with significant findings related to various genetic variants associated with conditions like Congenital Adrenal Hyperplasia (CAH) and Multiple Endocrine Neoplasia (MEN).
  • The MGFT has also developed a diagnostic and research program focusing on premature puberty, particularly the role of the MKRN3 gene, aiming to enhance healthcare for patients with rare endocrine
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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).

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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.

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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.

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Role of Iodine-Assisted Aerosol Particle Formation in Antarctica.

Environ Sci Technol

April 2024

Department of Physics, Lund University, Professorsgatan 1, Lund SE-22363, Sweden.

Article Synopsis
  • The mechanism of new particle formation primarily studied is ion-mediated sulfuric acid and ammonia clustering, but recent research highlights the potential of iodine-driven nucleation, especially in coastal regions.
  • Laboratory observations indicate that iodine species play a significant role in particle formation, adding to our understanding of atmospheric chemistry in these areas.
  • The study shows that incorporating iodine into particle formation models enhances the prediction of Aitken mode particle sizes and can significantly boost cloud condensation nuclei concentrations under specific weather conditions.
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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.

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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.

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Projected wind and solar energy potential in the eastern Mediterranean and Middle East in 2050.

Sci 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.

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Light oxygenated volatile organic compound concentrations in an Eastern Mediterranean urban atmosphere rivalling those in megacities.

Environ 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.

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Special Issue "Personalized Medicine in Blood Disease of Children".

J 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 [...

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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.

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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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