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1501
Clinical phenotype and functional influence of GRIN2A variants in epilepsy‐aphasia syndrome
Published 2024-12-01“…We assess the variants' harmfulness through a variety of functional experiments, including evaluating the expression level of the mutated protein and the resulting changes in electrophysiological activities. …”
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1502
The incoherent feed‐forward loop can generate non‐monotonic input functions for genes
Published 2008-07-01“…This motif was shown to act as a pulse generator and response accelerator of gene expression. Here we consider an additional function of this motif: the I1‐FFL can generate a non‐monotonic dependence of gene expression on the input signal. …”
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1503
Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients
Published 2024-11-01“…To investigate the functional consequences of these mutations, we studied their pathogenicity using in vitro culture erythroblast derived from CD34 + stem cells. …”
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1504
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1505
HP1 loses its chromatin clustering and phase separation function across evolution
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1506
ENL mutation and AML: a new model that reveals oncogenic condensate's function in leukemogenesis
Published 2025-01-01“…Precise regulation of gene expression is essential for proper development and the maintenance of homeostasis in organisms. …”
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1507
The CPEB protein Orb2 has multiple functions during spermatogenesis in Drosophila melanogaster.
Published 2012-01-01“…By contrast, orb2 is broadly expressed in the soma; and previous studies have revealed important functions in asymmetric cell division, viability, motor function, learning, and memory. …”
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1508
Investigation on the Role of Medical Recombinant Human-Derived Collagen Functional Dressings in Wound Healing
Published 2025-07-01“…After animal surgery, the surgical wound was taken at 1 week, 4 weeks and 13 weeks, respectively, for hematoxylin eosin (HE) staining and immunohistochemistry to observe the inflammatory response and CD31 expression of the wound. Results Medical recombinant human-derived collagen functional dressing promotes cell proliferation and migration, enhances wound angiogenesis by upregulating the expression of VEGF, FGF, and CD31 in human dermal vascular endothelial cells (HDVEC) and human vascular endothelial cells (HVEC), thereby improving local blood supply to the wound, regulating the inflammatory response of the wound, and accelerating wound healing. …”
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1509
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1510
ACSL4 predicts rapid kidney function decline in patients with diabetic kidney disease
Published 2025-03-01“…The associations between the ACSL4 level and clinical characteristics as well as rapid kidney function decline defined as an estimated glomerular filtration rate (eGFR) slope ≤ -5 ml/min/1.73m2/year were analyzed.ResultsACSL4 was mainly expressed in tubular epithelial cells. …”
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1511
The PINK1-Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells.
Published 2021-01-01“…Our findings suggest that the PINK1 -Parkin mitophagy signalling pathway is not functional in PBMCs. Therefore, PBMCs are not a suitable biosample for analysis of mitophagy function in Parkinson disease patients.…”
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1512
The paradox of hnRNPK: both absence and excess impair skeletal muscle function in mice
Published 2025-08-01“…In adult mice, both the loss and gain of hnRNPK function led to reduced muscle mass, decreased fiber size, and compromised skeletal muscle homeostasis. …”
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1513
Bioinformatics-based prognostic value and in vitro functional validation of PTK6 in cutaneous melanoma
Published 2025-07-01“…Bioinformatics analysis evaluated PTK6 expression and its impact on prognosis. GO and KEGG analyses explored biological functions of PTK6-related differentially expressed genes (DEGs). …”
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1514
Single-cell transcriptomics reveals the heterogeneity and function of mast cells in human ccRCC
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1515
Molecular cloning and functional identification of an apple flagellin receptor MdFLS2 gene
Published 2018-12-01“…Furthermore, the ectopic expression of MdFLS2 complemented the function of the Arabidopsis fls2 mutant and conferred enhanced flg22 tolerance to the transgenic Arabidopsis, suggesting that MdFLS2 acts as a positive regulator in the response to pathogens in apple.…”
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1516
Klf9 Loss of Function Protects Against Glucocorticoids Induced Skeletal Muscle Wasting
Published 2025-08-01“…We performed Klf9 gain‐ or loss‐of‐function studies in differentiated C2C12 myotubes using lentiviruses encoding Klf9 or the shRNA specific to Klf9 in vitro. …”
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1517
HCF-1 as a key modulator of OGT function and O-GlcNAcylation in the liver
Published 2025-08-01“…Abstract Host cell factor-1 (HCF-1) is a transcriptional coregulator essential for maintaining liver function and cellular metabolism. O-linked N-acetylglucosamine transferase (OGT) is a key nutrient-sensing enzyme that catalyzes protein O-GlcNAcylation, a critical post-translational modification regulating metabolic pathways. …”
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1518
Aquaporin 5 polymorphisms and rate of lung function decline in chronic obstructive pulmonary disease.
Published 2010-12-01“…<h4>Conclusions</h4>Polymorphisms in AQP5 were associated with rate of lung function decline in continuous smokers with COPD. A missense mutation modulates AQP-5 expression in response to cigarette smoke extract and shear stress. …”
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1519
Investigating the protective effect of hydroxylated fullerenes on cognitive function in rats with temporal lobe epilepsy
Published 2025-04-01“…Abstract The objective of this study was to explore the protective effects of hydroxy fullerenes (HFs) on cognitive function in rats with temporal lobe epilepsy (TLE) and to elucidate the underlying mechanisms. …”
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1520
Examination of the functions and mechanism of KCP in mediating paclitaxel resistance in cervical squamous carcinoma cells
Published 2025-04-01“…The downstream mechanism of KCP-mediated resistance to paclitaxel was then examined using human gene chip detection and IPA bioinformatics analysis, and qPCR analysis was used to validate its downstream genes.Results①Functional studies of SiHa cells showed that KCP knockout (sgRNA) inhibited colony formation and proliferation of SiHa cells in the presence of paclitaxel (p<0.05). ②Using a whole human genome microarray, a total of 491 differentially expressed genes were identified in KCP knockout versus the NC SiHa cells. …”
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