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Applying bioinformatic analysis for prognostic assessment of the <i>HS3ST6</i> missense mutations clinical significance in the development of hereditary angioedema
Published 2023-02-01“…Currently, mutations in the HS3ST6 gene remain poorly understood; only one missense mutation (p.Thr144Ser, rs746467957) associated with the development of HAE has been described.The aim of our work was to study new mutations in the HS3ST6 gene and analyze in silico their prognostic nature and clinical significance for the development of hereditary angioedema.The material was whole blood samples obtained from 13 patients with symptoms of hereditary angioedema without reduced levels and function of C1-INH.Whole exome sequencing of patients, bioinformatic analysis of HS3ST6 gene mutations using a number of databases and Web resources to predict the effect of mutations on the protein and assess the conservatism of the positions of the mutations detected was involved in study methods.Mutations in the HS3ST6 gene were identified in four patients, including two cases with two mutations simultaneously. …”
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OGLE-2011-BLG-0462: An Isolated Stellar-mass Black Hole Confirmed Using New HST Astrometry and Updated Photometry
Published 2025-01-01“…We have reanalyzed the data, including the new HST astrometry, and photometry obtained with 16 different telescopes. The source lies only $0\mathop{.}\limits^{^{\prime\prime} }4$ from a bright neighbor, making it crucial to perform precise subtraction of its point-spread function (PSF) in the astrometric measurements of the source. …”
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Validation of a 60K SNP chip for caribou (Rangifer tarandus) for use in wildlife forensics, conservation, and management
Published 2024-12-01“…Based on a population-targeted subset of SNPs included in the chip design, reassignment of 981 samples to a functional group (here to a caribou ecotype) was highly accurate (99.59 %) and the relative probability of reassignment error was estimated using the logarithm of odds score. …”
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Connectivity guided intermittent theta burst stimulation versus repetitive transcranial magnetic stimulation in moderately severe treatment resistant depression
Published 2025-02-01“…To explore the mechanism of action of transcranial magnetic stimulation through effective and functional connectivity, and gamma-aminobutyric acid and glutamate+glutamine in the prefrontal cortex, subgenual anterior cingulate cortex and right anterior insula. …”
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Effects of aspirin and omega-3 fatty acids on age-related macular degeneration in ASCEND-Eye: a randomised placebo-controlled trial in a population with diabetes
Published 2025-02-01“…Reports of AMD diagnoses were sourced from 6 monthly ASCEND follow-up questionnaires and a Visual Function Questionnaire.Participants 15 480 UK adults at least 40 years of age with diabetes but no evident cardiovascular disease.Interventions 100 mg aspirin daily versus placebo and, separately, 1 g omega-3 FAs daily versus placebo.Main outcome measure The first post-randomisation reports of AMD.Results During 7.4 years of follow-up, 122 (1.6%) participants randomised to aspirin were reported as having AMD, compared with 138 (1.8%) randomised to placebo (rate ratio 0.88; 95% CI 0.69 to 1.12; p=0.31). …”
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Landscape of extracellular small RNA and identification of biomarkers in multiple human cancers
Published 2025-08-01“…Summary: Extracellular RNAs (exRNAs) in biofluids, sourced from diverse tissues, exhibit various biological functions and diagnostic potential. …”
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3D printing-biomimetic local stiff niche enhances glycolysis to boost PDAC cell stem-like phenotype via N6-methyladenosine-suppressed YAP1 mRNA decay
Published 2025-10-01“…However, the stiffness heterogeneity of TME within PDAC functions on tumor cell stem-like phenotypes remains unclear. …”
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Multimodal versus non-contrast computed tomography for assessment of acute ischaemic stroke: the PRACTISE RCT
Published 2025-06-01“…Treatment decision and delivery times, early neurological recovery and day 90 functional outcomes did not differ significantly between groups. …”
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Influência de um protocolo de criopreservação no rendimento in vitro de células-tronco derivadas do tecido adiposo Effect of a cryopreservation protocol on the in vitro yield of ad...
Published 2012-09-01“…<br>BACKGROUND: Adipose tissue obtained by liposuction may be an accessible source of stem cells for future clinical application in tissue regeneration. …”
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Improving older people’s experiences and safety at transitions of care: the PACT mixed-methods study including RCT
Published 2025-04-01“…Secondary outcomes included: unplanned 60- and 90-day hospital re-admissions; quality of transition; health-related quality of life (EuroQol-5 Dimensions, five-level version); and self-reported healthcare resource use. Data sources National Health Service Secondary Use Services data and Hospital Episodes data for work package 2 and routinely recorded National Health Service acute trust hospital data on re-admissions for work packages 5 and 6. …”
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Regulation of land use conflicts at indigenous peoples lands based on blockchain platform, russian arctic case study
Published 2023-01-01“…The goal of this investigation is the elaboration of a multi-functional information platform based on blockchain principles needed to achieve adaptive development of TTNU involved in the process of land use patterns transformation. …”
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Glucocorticoids and antivirals for HBV reactivation in onco-hematologic patients
Published 2010-02-01“…In this later autopsy detected cirrhosis, not evident at presentation. This clinical experience suggests that in patients with <span>onco-hematological</span> and persistent liver function tests alterations in spite of effective antiviral response, glucocorticoids could control the effects of immune response. …”
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Growth Toxic Effects of Metal Nanoparticles on Bacillus subtilis and Vibrio parahaemolyticus
Published 2025-04-01“…Based on the ecological roles and functions of these two bacteria in marine microbial communities, this study used B. subtilis and V. parahaemolyticus isolated from Bohai Bay as test organisms. …”
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Insights into the Driving Factors of Methane Emission from Double-Season Rice Field Under Different Fertilization Practices in South China
Published 2024-11-01“…Paddy fields are the main agricultural source of greenhouse gas methane (CH<sub>4</sub>) emissions. …”
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Improving outcomes for people with autism spectrum disorders by reducing mental health problems: the IAMHealth research programme including one RCT
Published 2025-05-01“…Adolescent adaptive functioning was predicted not only by early childhood autistic symptoms and IQ and ADHD symptoms. …”
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Spectrum of Cortactin Isoforms in the Urine of Patients with Liver Cirrhosis and Their Diagnostic Value as a Potential Molecular Marker of its Severity
Published 2019-10-01“…Since the protein content of human urine is closely related to the peculiarity of the functioning of biological systems, its qualitative and quantitative characteristics are promising markers for control of various processes in organism. …”
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The cnf1 gene is associated with an expanding Escherichia coli ST131 H30Rx/C2 subclade and confers a competitive advantage for gut colonization
Published 2022-12-01“…In addition, functional analysis of the cnf1-positive clinical strain EC131GY ST131-H30Rx/C2 and a cnf1-deleted isogenic strain showed no detectable impact of the CNF1 gene on bacterial fitness and inflammation during the acute phase of bladder monoinfection. …”
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تقييم تأثير وسائل الاعلام والدعاية على إدراک المستخدمين للعمارة والعمران "دراسة حالة مشروعات الاسکان في مصر"...
Published 2019-03-01“…Where the mass media vision of architecture and construction is limited to the notion th athousing projects are merely architectural designs imbedded within investment enterprises, that target profit at the first place, and that such projects are no longer inconsistent compliance with the basic needs of the units users, in terms of: functional spaces, the social or environmental needs, in accordance with the community's cultureand its distinctive characteristics.Consequently, this research sheds light on the influence exercised by the mass media on the society's culture, consciousness, awareness, and perception of the essence ofarchitecture and settlement. …”
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