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1701
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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1702
Dietary supplementation with L-carnitine elevates intracellular carnitine levels and affects gene expression of SLC25A20 and COX4I1, as well as non-mitochondrial respiration of bov...
Published 2025-07-01“…A contrasting pattern was detected for the gene expression of cytochrome c oxidase subunit 4I1 (COX4I1), with stable levels in CON and a downregulation in CAR due to LPS injection. …”
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1703
Klebsiella pneumoniae under xylose pressure: the growth adaptation, antimicrobial susceptibility, global proteomics analysis and role of XylA and XylB proteins
Published 2025-04-01“…Additionally, while the growth adaptation of K2044−8Xyl−60G under xylose pressure was confirmed, no amino acid mutations were detected in the functional proteins of this xylose-induced isolate, suggesting that persistent xylose pressure does not cause nonsense mutations in the bacterial genome. …”
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1704
Glucosylceramides containing very long-acyl-chain fatty acid are critical for cotton fiber elongation by influencing brassinosteroid synthesis and signaling
Published 2025-08-01“…Our study shed a novel insight on regulatory mechanism of cotton fiber elongation and provides theoretical support, genetic resources and novel transgenic materials for improvement of crop quality.…”
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1705
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1706
Exploring the role of mitochondrial metabolism and immune infiltration in myocardial infarction: novel insights from bioinformatics and experimental validation
Published 2025-05-01“…This study aimed to clarify the roles of mitochondrial metabolism and immune infiltration in MI, using a combination of bioinformatics analyses and experimental validation.MethodsMI chip data (GSE96561, GSE181872, and GSE183272) were obtained from the Gene Expression Omnibus (GEO) database, and mitochondrial gene data were sourced from the MitoCarta3.0 database. Differentially expressed genes (DEGs) were identified and subjected to functional enrichment analyses. …”
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1707
Association of Omega-3 Index and Blood Cell Count-Derived Systemic Inflammatory Indexes among Testicular Germ Cell Tumor Survivors
Published 2024-02-01“…Background and objectives: Although testicular cancer is considered the paradigm of highly curable malignancy, treatment-induced adverse effects and potential impairment of gonadal function may cause non-negligible long-term health repercussions, including metabolic disturbances and cardiovascular sequelae. …”
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1708
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1709
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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1710
Genome‐wide association study and BSR‐seq identify nitrate reductase–related genes in rice landraces (Oryza sativa L.)
Published 2025-06-01“…These findings will provide valuable genetic resources for NUE genetic improvement in rice breeding.…”
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1711
Trend analysis of the application of multispectral technology in plant yield prediction: a bibliometric visualization analysis (2003–2024)
Published 2025-02-01“…Over the past decade, multispectral image acquisition and information extraction from plants have provided rich data resources for scientific research, facilitating a deeper understanding of plant growth mechanisms and ecosystem function. …”
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1712
Genome-wide association mapping of aluminum toxicity tolerance and fine mapping of a candidate gene for Nrat1 in rice.
Published 2018-01-01“…Our research indicated that minor alleles are important for QTL mapping and its application in rice breeding when natural gene resources are used.…”
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1713
HERV-derived epitopes represent new targets for T-cell-based immunotherapies in ovarian cancer
Published 2025-08-01“…A specific immunopeptidomics approach was developed to detect epitopes on human leukocyte antigens (HLA) molecules. …”
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1714
U-Net-based VGG19 model for improved facial expression recognition
Published 2025-06-01“…The innovation of the SEAttention module lies in replacing the original activation function with the Mish activation function, which can dynamically adjust the weights of different channels to enhance performance. …”
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1715
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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1716
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1717
Depressive disorders in women of climacteric age (review of foreign literature for 2012–2016)
Published 2018-07-01“…In the abstract-bibliographic and scientometric database Web of Science Core Collection 70 bibliographic sources are selected across foreign journals between 2012 and 2016, including journals with high Impact Factor. …”
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1718
Hybrid closed-loop systems for managing blood glucose levels in type 1 diabetes: a systematic review and economic modelling
Published 2024-12-01“…Treatment with insulin is aimed at replicating the function of the pancreas to manage hyperglycaemia and avoid hypoglycaemia. …”
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1719
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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1720
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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