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A compendium of uniformly processed human gene expression and splicing quantitative trait loci
Many gene expression quantitative trait locus (eQTL) studies have published their summary statistics, which can be used to gain insight into complex...
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Small extrachromosomal circular DNA harboring targeted tumor suppressor gene mutations supports intratumor heterogeneity in mouse liver cancer induced by multiplexed CRISPR/Cas9
BackgroundPrimary liver cancer has significant intratumor genetic heterogeneity (IGH), which drives cancer evolution and prevents effective cancer...
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New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
BackgroundKaryomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by...
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EGR1 suppresses HCC growth and aerobic glycolysis by transcriptionally downregulating PFKL
BackgroundHepatocellular Carcinoma (HCC) is a matter of great global public health importance; however, its current therapeutic effectiveness is...
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Anti-angiogenesis and anti-immunosuppression gene therapy through targeting COUP-TFII in an in situ glioblastoma mouse model
Glioblastoma (GBM) is the most common and aggressive primary brain cancer; angiogenesis and immunosuppression exacerbate GBM progression. COUP-TFII ...
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Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery
BackgroundCASK -related neurodevelopmental disorders are untreatable. Affected children show variable severity, with microcephaly, intellectual...
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Chromosome 18 gene dosage map 2.0
In 2009, we described the first generation of the chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each...
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Malaria Drug Discovery: How to Tackle the Problem of Drug Resistance
Malaria has been a huge issue in previous years since it is an endemic disease that kills millions of people worldwide, regardless of their age....
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Novel Diagnostic Methods for Emerging Respiratory Viral Infection
Since the global emergence of COVID-19, viral respiratory infections have become a major cause for concern for people due to an increase in the basic...
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Innovative Strategies in Drug Discovery and Pharmacoinformatics
Drug discovery comprises all the activities involved in transforming a compound from a drug candidate to a product approved for marketable form and...
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Molecular subtype identification and prognosis stratification based on golgi apparatus-related genes in head and neck squamous cell carcinoma
BackgroundAbnormal dynamics of the Golgi apparatus reshape the tumor microenvironment and immune landscape, playing a crucial role in the prognosis...
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Current Insights of Nanocarrier-Mediated Gene Therapeutics to Treat Potential Impairment of Amyloid Beta Protein and Tau Protein in Alzheimer’s Disease
Alzheimer’s disease (AD), is the major type of dementia and most progressive, irreversible widespread neurodegenerative disorder affecting the...
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Knockdown resistance (kdr) gene of Aedes aegypti in Malaysia with the discovery of a novel regional specific point mutation A1007G
BackgroundImproved understanding of the molecular basis of insecticide resistance may yield new opportunities for control of relevant disease...
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Ligands stimulating antitumour immunity as the next G-quadruplex challenge
G-quadruplex (G4) binders have been investigated to discover new anticancer drugs worldwide in past decades. As these ligands are generally not...
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Inactivation of the Schizophrenia-associated BRD1 gene in Brain Causes Failure-to-thrive, Seizure Susceptibility and Abnormal Histone H3 Acetylation and N-tail Clip**
Genetic studies have repeatedly shown that the Bromodomain containing 1 gene, BRD1 , is involved in determining mental health, and the importance of...
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Analysis on EZH2: mechanism identification of related CeRNA and its immunoassay in hepatocellular carcinoma
ObjectiveTo screen the possible potential signaling pathways related to enhancer of zeste homolog 2 (EZH2) based on ceRNA mechanism, and to analyze...
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Physiologically Based Pharmacokinetic Modeling for Prediction of 5-FU Pharmacokinetics in Cancer Patients with Hepatic Impairment After 5-FU and Capecitabine Administration
Purpose5-fluorouracil (5-FU) and its prodrug capecitabine are commonly prescribed anti-tumor medications. We aimed to establish physiologically based...
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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify...
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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase ( RARS2 ) gene have been involved in early-onset encephalopathies classified...
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Spatial and single-cell explorations uncover prognostic significance and immunological functions of mitochondrial calcium uniporter in breast cancer
The mitochondrial calcium uniporter (MCU) is a transmembrane protein facilitating the entry of calcium ions into mitochondria from the cell cytosol....
