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1941
Exome sequencing in Nigerian children with early‐onset epilepsy syndromes
Published 2025-02-01“…Computational analysis involved variant calling, curation, and classification using specialized tools and databases. Results Pathogenic variants were identified in 6 out of 22 individuals, equaling a diagnostic yield of 27.3% and comprising variants in BPTF, NAA15, SCN1A, TUBA1A and twice in CACNA1A. …”
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1942
Immunophénotypage et applications envisageables pour l’amélioration génétique des volailles
Published 2025-04-01“…L’immunocompétence peut être évaluée en mesurant la résistance ou la tolérance à un pathogène particulier ou en analysant un panel de paramètres immunitaires. …”
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1943
The immunosuppressive role of VSIG4 in colorectal cancer and its interaction with the tumor microenvironment
Published 2025-05-01“…Methods This study integrated data from the TCGA-COAD dataset with the GEO database, along with single-cell RNA sequencing data, to systematically analyze key genes in colorectal cancer. …”
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1944
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes
Published 2025-04-01“…The integration of PSEN1, PSEN2 and APP correlation data shows parallel but shifted lines, suggesting a common pathogenic mechanism with gene-specific shifts in onset. …”
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1945
DENND5B Gene Expression as a Trigger for the Development of Diabetes Mellitus–Peripheral Artery Disease: Insights from a Univariate and Multivariate Mendelian Randomization Study
Published 2024-12-01“…Compared to individuals with PAD but no DM, those with concurrent DM and PAD (DM-PAD, diabetes mellitus–peripheral artery disease) face a seven-fold higher risk of critical limb ischemia and a five-fold higher risk of amputation. However, the pathogenic factors and effective therapeutic targets for DM-PAD still remain elusive. …”
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1946
Prognostic impact of donor mitochondrial genomic variants in myelodysplastic neoplasms after stem-cell transplantation
Published 2024-11-01“…In the entire donor cohort, we identified 1,825 mtDNA variants, including 67 potential pathogenic variants. Genetic variants on MT-CYB and MT-ND5 genes were identified as independent predictors of posttransplant outcomes. …”
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1947
Targeting Ocular Biofilms with Plant-Derived Antimicrobials in the Era of Antibiotic Resistance
Published 2025-07-01“…These infections are often caused by pathogens, including <i>Staphylococcus aureus</i>, <i>Pseudomonas aeruginosa</i>, and <i>Candida albicans</i>, particularly in patients using contact lenses or intraocular implants—devices that serve as surfaces for biofilm formation. …”
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1948
Recent advances in nano-enhanced biosensors: Innovations in design, applications in healthcare, environmental monitoring, and food safety, and emerging research challenges
Published 2025-06-01“…The integration of nanotechnology into biosensor design has propelled significant advancements, transforming them into essential tools for precise and rapid detection in diverse fields. …”
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1949
Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer
Published 2025-03-01“…We emphasize the integration of a full-length gene splicing assay (FLGSA) with SpliceAI’s predictive capabilities, establishing SPINK1 the first disease gene for which the splicing impact of all possible coding variants was prospectively determined. …”
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1950
Evaluation of antibody serology to determine current helminth and Plasmodium falciparum infections in a co-endemic area in Southern Mozambique.
Published 2022-06-01“…We also showed the feasibility of measuring antibody serology with a platform that allows the integration of control and elimination programs for different pathogens.…”
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1951
Morphometric and richness analysis of free-living and parasite taxa-invading street wetlands in Port Said, Egypt
Published 2025-01-01“…Conclusion: The street wetlands in the surveyed area contain various free-living and pathogenic taxa. There is a need to link the presence of these organisms to physicochemical analyses. …”
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1952
An efficient green synthesis of Ag/Fe2O3 nanocomposite using Carica papaya peel extract for enhanced photocatalytic, antioxidant, and antibacterial activities
Published 2025-05-01“…Based on these results, Ag/Fe2O3-NCs could be used as a useful photocatalyst for water treatment, pathogenic disinfection, and antioxidant tools.…”
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1953
Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome
Published 2025-03-01“…The patient, diagnosed with a pathogenic <i>PTCH1</i> gene mutation, underwent a series of treatment interventions over several years. …”
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1954
Antimicrobial Resistance Profiles of Escherichia coli Isolated from Broiler and Layer Chickens in Arusha and Mwanza, Tanzania
Published 2021-01-01“…The rise in the spread of antibiotic-resistant pathogens such as Escherichia coli is one of the very important dynamics off-putting treatment and prophylaxis possibilities, hence posing a threat to the modern human medicine, veterinary medicine, and food safety. …”
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1955
Rapid visual detection of Monkeypox virus by one-step LAMP-CRISPR/Cas12b assay
Published 2025-05-01“…The limit of detection (LOD) of the assay was demonstrated to be 6.5 copies per reaction and no cross-reactivity with other pathogens such as HSV, EBV, CVA16, EV-A71, and MV was found. …”
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1956
Engineering copper and copper-based materials for a post-antibiotic era
Published 2025-08-01“…In recent years, the emergence of multidrug-resistant bacteria and the frequent outbreaks of novel viral pathogens have intensified the demand for novel, efficient, and low-toxicity antimicrobial materials. …”
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1957
Morphofunctional and Biochemical Approaches for Studying Mitochondrial Changes during Myoblasts Differentiation
Published 2011-01-01“…Other notable proteins, such as superoxide dismutase (MnSOD), a cell protection molecule, and voltage-dependent anion-selective channel protein (VDAC1) involved in the mitochondria-mediated apoptosis, were found to be regulated by the myogenic process. The integration of these approaches represents a helpful tool for studying mitochondrial dynamics, biogenesis, and functionality in comparative surveys on mitochondrial pathogenic or senescent satellite cells.…”
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1958
The role of glucagon-like peptide-1 receptor agonists in the correction of immune and metabolic disorders in women with reproductive dysfunction
Published 2020-04-01“…GLP-1RAs target key pathogenic mechanisms underlying these conditions, extending beyond their glucose-lowering effects. …”
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1959
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1960
A review of metabolic calorimetric applications in plant stress, waste management, and diagnostics
Published 2024-09-01“…It is advised that these calorimetric studies be used in plant, soil, and waste bodies for ecosystem safety and integrity. IMC not only enhances our understanding of plant responses to stress and pathogens but also aids in achieving Sustainable Development Goal (SDG) 3 by enhancing diagnostic capabilities and disease management. …”
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