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381
Causal links between iron status, mitochondrial function, and laryngeal and hypopharyngeal cancers: a Mendelian study
Published 2025-07-01“…Abstract Background This Mendelian randomization (MR) study aimed to investigate bidirectional causal relationships between genetically predicted iron homeostasis, mitochondrial function, and the risk of laryngeal and hypopharyngeal cancers. …”
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382
Protein tyrosine phosphatase receptor type kappa (PTPRK) revisited: evolving insights into structure, function, and pathology
Published 2025-05-01“…In this review, we elucidate the structural characteristics and functional roles of PTPRK in cellular signaling and disease pathogenesis. …”
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383
Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS
Published 2025-02-01“…Experimental validation demonstrated that both variants led to alterations in the molecular size, expression level, and localization of the Sall1 protein, suggesting that these SALL1 gene variants might contribute to FSGS by impacting podocyte function.…”
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384
Functional characterization of conserved small open reading frames on the genomic RNA of sonchus yellow net virus
Published 2025-07-01“…However, the functions of these additional sORFs remain largely unexplored. …”
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385
Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson’s disease pedigrees
Published 2025-06-01“…Bioinformatics tools (HSF, SpliceAI and ESEfinder 3.0) were used to predict the impact of mutations on the splicing function of precursor mRNA. The in vitro minigene experiment was conducted to verify the impact of the mutation on the splicing function of the precursor mRNA.ResultsWhole-exome sequencing of the proband identified a synonymous variant c.2145C>T (p. …”
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386
Predictive value of percutaneous peripheral arterial compliance T in left ventricular diastolic function with coronary artery disease
Published 2024-11-01“…At the same time, linear analysis of the average values of peripheral arterial compliance indices in both groups revealed that the average compliance indices in Groups C and D had a linear correlation with their LV-T (P < 0.05).When coronary artery stenosis exceeds 50%, the changes in peripheral arterial T values are significantly correlated with changes in LV-T.ConclusionsWhen coronary artery stenosis exceeds 50%, there is a decrease in peripheral artery compliance, showing a positive correlation with changes in left ventricular diastolic function. Measuring this compliance might offer an early diagnostic tool for assessing diastolic function.…”
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387
Lead Causes Lipid Droplet Accumulation by Impairing Lysosomal Function and Autophagic Flux in Testicular Sertoli Cells
Published 2025-02-01“…Our findings indicate that the Pb hindered the autophagic clearance by impairing the lysosomes’ function and then obstructing the fusion of lysosomes and autophagosomes. …”
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388
Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses
Published 2017-01-01“…Dosage-dependent upregulation of most of chromosome 21 (Hsa21) genes has been demonstrated in heart tissues of fetuses with Down syndrome (DS). Also miRNAs might play important roles in the cardiac phenotype as they are highly expressed in the heart and regulate cardiac development. …”
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389
Aberrant Whole-Brain Resting-State Functional Connectivity Architecture in Obsessive-Compulsive Disorder: An EEG Study
Published 2022-01-01“…Obsessive-compulsive disorder (OCD) is a common neuropsychiatric disorder characterized by intrusive thoughts (obsessions) and repetitive behaviors (compulsions), and few studies have assessed the whole-brain functional connectivity architecture of OCD with electroencephalogram (EEG) during different resting states. …”
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390
Purification and functional characterisation of rhiminopeptidase A, a novel aminopeptidase from the venom of Bitis gabonica rhinoceros.
Published 2010-08-01“…Similar to mammalian aminopeptidases, rhiminopeptidase A might be capable of playing roles in altering the blood pressure and brain function of victims. …”
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391
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392
Abnormal Resting-State Functional Connectivity Strength in Mild Cognitive Impairment and Its Conversion to Alzheimer’s Disease
Published 2016-01-01“…We demonstrated gradual but progressive functional changes during a median 2-year interval in patients converting from MCI to AD, which might serve as early indicators for the dysfunction and progression in the early stage of AD.…”
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393
Cadmium targeting transcription factor EB to inhibit autophagy-lysosome function contributes to acute kidney injury
Published 2025-06-01“…Conclusion: In summary, these findings reveal that TFEB phosphorylation, nuclear export and acetylation independently suppress TFEB activity to cause Cd-induced AKI via regulating autophagy-lysosome function, suggesting that TFEB activation might be a promising treatment strategy for Cd-induced AKI.…”
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394
The cell adhesion molecule CD44 acts as a modulator of 5-HT7 receptor functions
Published 2024-11-01“…However, the functional consequences of this interaction on 5-HT7R-mediated signaling remained enigmatic. …”
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395
Exploring the Influence of a Pomegranate Extract on the Functionality of Healthy and Diseased Human Gut Microbiota: An In Vitro Study
Published 2025-04-01“…These compounds make pomegranate a functional food with the potential to modulate chronic disease risk factors and enhance gut health by modulating microbiota. …”
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396
Downregulation of AdipoR1 in the hippocampus impairs synaptic function and structure and causes depression-like behavior
Published 2025-08-01“…Adiponectin, an adipokine, crosses the blood‒brain barrier to function in specific brain regions. Previous studies have suggested that the downregulation of adiponectin signaling is involved in the occurrence of depression. …”
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397
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications
Published 2025-08-01“…We found that people with overactive SCN1A function might respond differently to certain medications.…”
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398
Antioxidant, Physiochemical, and Sensory Properties of Functional Marshmallow Produced from Honey, Strawberry Concentrates, and Hibiscus Extract
Published 2025-01-01“…However, its high sugar contents and low nutritive value might lead to adverse health outcomes. This study, therefore, aimed to develop optimal formulations for functional marshmallow candy using honey, aqueous hibiscus extract, cow’s milk, and strawberry concentrates with partial replacement of table sugar and glucose syrup. …”
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399
Individual alpha frequency tACS reduces static functional connectivity across the default mode network
Published 2025-05-01“…IntroductionResearch on the influence of transcranial alternating current stimulation over alpha functional connectivity (FC) is scarce, even when it poses as a potential treatment for various diseases. …”
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400
Greater Central Adiposity Is Associated With Poorer Left Atrial Function: The Atherosclerosis Risk in Communities (ARIC) Study
Published 2025-06-01“…Change in WC, WHR, and BMI were not associated with LA contractile function. Conclusion: Worsening central adiposity from mid-life to late life is associated with reduced LA reservoir and conduit function, independent of LA size and LV size and function. …”
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