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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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Luteolin Mitigates D-Galactose-Induced Brain Ageing in Rats: SIRT1-Mediated Neuroprotection
Luteolin is an essential natural polyphenol found in a variety of plants. Numerous studies have supported its protective role in neurodegenerative...
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Synaptic Vesicle-Related Proteins and Ubiquilin 2 in Cortical Synaptosomes Mediate Cognitive Impairment in Vascular Dementia Rats
Synaptic dysfunction is considered the best neuropathological correlate of cognitive decline in vascular dementia (VaD). However, the alterations of...
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The relationship between Stroma AReactive Invasion Front Areas (SARIFA), Warburg-subtype and survival: results from a large prospective series of colorectal cancer patients
BackgroundStroma AReactive Invasion Front Areas (SARIFA) is a recently identified haematoxylin & eosin (H&E)based histopathologic biomarker in...
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Regulation of MicroRNAs After Spinal Cord Injury in Adult Zebrafish
Spinal cord injury (SCI) is a central nerve injury that often leads to loss of motor and sensory functions at or below the level of the injury....
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Enhancing cancer therapy: the integration of oncolytic virus therapy with diverse treatments
As one of the significant challenges to human health, cancer has long been a focal point in medical treatment. With ongoing advancements in the field...
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Potential of animal-welfare compliant and sustainably sourced serum from pig slaughter blood
The animal product most used as a stimulatory additive for cell cultivation is still fetal bovine serum (FBS). Besides the ethical concerns regarding...
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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
BackgroundOne of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...
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A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...
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Glycogenolysis-Induced Astrocytic Ser**1 Expression Regulates Neuroinflammatory Effects on Hippocampal neuron
The bacterial pathogen, lipopolysaccharide (LPS), elicits microglial response and induces cytokine secretion that subsequently activates astrocytes....
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Exploratory Mass Spectrometry of Cerebrospinal Fluid from Persons with Autopsy-Confirmed LATE-NC
Common neuropathologies associated with dementia include Alzheimer’s disease neuropathologic change (ADNC) and limbic-predominant age-related TDP-43...
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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...
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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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Pharmacogenetics in Italy: current landscape and future prospects
Pharmacogenetics investigates sequence of genes that affect drug response, enabling personalized medication. This approach reduces drug-induced...
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Inhibition of autophagy induced by tetrandrine promotes the accumulation of reactive oxygen species and sensitizes efficacy of tetrandrine in pancreatic cancer
Pancreatic cancer, characterized by its poor prognosis, exhibits a marked resistance to conventional chemotherapy and immunotherapy, underscoring the...
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Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Age at diagnosis (AAD) of Type 1 diabetes (T1D) is determined by the age at onset of the autoimmune attack and by the rate of beta cell destruction...
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Investigating the Impact of Intracerebroventricular Streptozotocin on Female Rats with and without Ovaries: Implications for Alzheimer’s Disease
To contribute to research on female models of Alzheimer’s disease (AD), our aim was to study the effect of intracerebroventricular (ICV) injection of...
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Antiferromagnetic artificial neuron modeling of the withdrawal reflex
Replicating neural responses observed in biological systems using artificial neural networks holds significant promise in the fields of medicine and...
