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241
Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome– paving the path towards precision medicine: a case report
Published 2025-01-01“…Conclusions In the era of accessible and comprehensive genetic and phenotypic tumor profiling, this case study of a patient with Li-Fraumeni syndrome underscores the success of precision oncology in harnessing additional somatic oncogenic driver alterations. …”
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242
GmERF57 negatively regulates root development and phosphate absorption in soybean
Published 2025-03-01“…Silencing GmERF57 expression promoted root development and enhanced plant Pi uptake; conversely, overexpression of GmERF57 yielded contrasting phenotypes compared to silenced roots. We further uncovered that GmERF57 physically interacts with GmTUB1 (β-tubulin protein) and modulates soybean root architecture and Pi uptake capacity by downregulating GmTUB1 and other Pi starvation response genes. …”
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243
Comparative evaluation of cell-based assay technologies for scoring drug-induced condensation of SARS-CoV-2 nucleocapsid protein
Published 2025-03-01“…These approaches lack information on protein dynamics, are limited by microscope resolution, and are insensitive to subtle condensation phenotypes missed by overfit analysis pipelines. Here, we evaluate two alternative cell-based assays: high-throughput single molecule tracking (htSMT) and proximity-based condensate biosensors using NanoBIT (split luciferase) and NanoBRET (bioluminescence resonance energy transfer) technologies. …”
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244
Optimizing fully-efficient two-stage models for genomic selection using open-source software
Published 2025-02-01“…Single-stage models predict GEBVs from phenotypic observations in one step, fully accounting for the entire variance-covariance structure among genotypes, but face computational challenges. …”
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245
Linking obesity-associated genotype to child language development: the role of early-life neurology-related proteomics and brain myelinationResearch in context
Published 2025-03-01“…Interpretation: This study demonstrates the potential of examining early-life proteomics in conjunction with deep genotyping and phenotyping and provides biological insights into the shared genomic links between obesity and language development. …”
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246
Molecular characterization of putative antibiotic resistance determinant and virulence factors genes of Acinetobacter baumannii strains isolated from intensive care unit patients i...
Published 2025-04-01“…Method: The A. baumannii isolates were confirmed by the VITEK-2 automated system and 16S rRNA phylogenetic relatedness. The phenotypic and genotypic resistance patterns of these isolates were also analyzed using conventional and molecular methods. …”
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247
Influence of sacroiliac joint variation on clinical features of axial spondyloarthritis: a comparative analysis
Published 2025-02-01“…Sex-stratified analysis revealed no statistically significant results.Conclusion Our analysis suggests that clinical phenotypes do not significantly differ between patients with axSpA with and without atypical joints.…”
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248
Molecular insight into reproductive toxicity and transgenerational effects of Cadmium exposure on Drosophila melanogaster
Published 2025-02-01“…At the epigenetic level, Cd could perturb fecundity across generations by modulating Dnmt2 expression, a pivotal regulator of methylation processes. Moreover, despite phenotypic recovery in F4, persistent molecular changes indicate enduring toxicity, highlighting the need for vigilance against environmental Cd contamination and its long-term effects. …”
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249
From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases
Published 2025-03-01“…Recent advancements have demonstrated the technology's potential to restore cellular homeostasis and alleviate disease phenotypes, thereby prompting a variety of clinical trials. …”
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250
Dynamic 19F-MRI of pulmonary ventilation in lung transplant recipients with and without chronic lung allograft dysfunction
Published 2025-02-01“…Background: By the time chronic lung allograft dysfunction (CLAD), with its main phenotypes bronchiolitis obliterans syndrome (BOS) and restrictive allograft syndrome (RAS), is diagnosed by pulmonary function testing, irreversible damage to the lung allograft may already have occurred. …”
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251
CSF3 promotes colorectal cancer progression by activating p65/NF-κB signaling pathway and inducing an immunosuppressive microenvironment
Published 2025-03-01“…In vitro and in vivo assays were performed to investigate the oncogenic function of CSF3 in the tumor associated malignant phenotypes and the tumorigenic capability of CRC cells. …”
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252
Incidence of methicillin, inducible clindamycin, and vancomycin resistance in Staphylococcus aureus clinical isolates in Gombe, Northeastern Nigeria
Published 2025-03-01“…Among the isolates that are phenotypically resistant to methicillin and vancomycin, 20 % of the isolates harbor mecA and vanA but none harbor both genes. …”
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253
Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS
Published 2025-02-01“…Conclusions Two patients with Townes-Brocks syndrome (TBS) harboring novel variants presented atypical phenotypes, characterized primarily by significant and rapidly progressing renal involvement. …”
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254
Hypoxia-inducible factor 1α is required to establish the larval glycolytic program in Drosophila melanogaster
Published 2025-03-01“…Results: Our studies reveal that sima mutants fail to activate aerobic glycolysis and die during larval development with metabolic phenotypes that mimic those displayed by dERR mutants. …”
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255
Systematic Review and Meta-Analysis on Human African Trypanocide Resistance
Published 2023“…Treatment failure rates were highest with melarsoprol followed by eflornithine at 41.49% (95% CI: 24.94–59.09) and 6.56% (3.06–11.25) respectively. HATr-resistant phenotypes used in most laboratory experiments demonstrated significantly higher pentamidine resistance than other trypanocides. …”
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256
Codon usage patterns and genomic variation analysis of chloroplast genomes provides new insights into the evolution of Aroideae
Published 2025-02-01“…It is difficult to identify and classify Aroideae species accurately on the basis of morphology alone because of their polymorphic phenotypic traits. The chloroplast genome (CPG) is useful for studying on plant taxonomy and phylogeny, and the analysis of codon usage bias (CUB) in CPGs provides further insights into the intricate phylogenetic relationships among Aroideae. …”
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257
HINT1 suppression protects against age-related cardiac dysfunction by enhancing mitochondrial biogenesis
Published 2025-03-01“…In addition, cardiac aging phenotypes and mitochondrial biogenesis were also analyzed in 25-month-old cardiac-specific Hint1 knockout mice, 24-month-old CAG-Caren Tg mice, and 24-month-old wild-type mice injected with AAV6-Caren. …”
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258
Application of deep learning models on single-cell RNA sequencing analysis uncovers novel markers of double negative T cells
Published 2024-12-01“…Together, our comprehensive analysis has uncovered and validated novel markers for different subpopulations of DNT cells that can be used in the phenotypic and/or functional characterization of these relatively rare cells in health and disease.…”
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259
Factors influencing the natural history of non-IgE-mediated gastrointestinal food allergies in paediatric age: a prospective multicentre cohort study
Published 2025-02-01“…At 24-month follow-up, the rate of patients with allergic march was 0.46 (95% CI 0.38 to 0.55, n=57/123), without differences comparing the four phenotypes. The presence of multiple FAs at baseline was associated with an increased risk of developing allergic march (OR=2.22, 95% CI 1.07 to 4.61) at 24-month follow-up.Conclusions The results of the study suggest the potential role of modifiable and non-modifiable risk factors influencing the natural history of paediatric patients affected by non-IgE-GIFA.…”
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260
Exploring the genotypic potential of perilla (Perilla frutescens L.) for climate-resilient agriculture in the North Eastern Himalayas
Published 2025-02-01“…To dissect the genetic basis, we evaluated 28 diverse genotypes of perilla across three growing seasons for eight agronomic traits and 16 biochemical traits, which revealed substantial phenotypic and biochemical variation. Agronomic traits displayed significant variability, with seed yield showing the highest coefficient of variation (CV), while leaf length showed the lowest CV. …”
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