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An in vivo accelerated developmental myelination model for testing promyelinating therapeutics
BackgroundTherapeutic agents stimulating the process of myelination could be beneficial for the treatment of demyelinating diseases, such as multiple...
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The QChip1 knowledgebase and microarray for precision medicine in Qatar
Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically...
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Gene therapy for neurological disorders: progress and prospects
Adeno-associated viral (AAV) vectors are a rapidly emerging gene therapy platform for the treatment of neurological diseases. In preclinical studies,...
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Extracellular Vesicles Isolated from Human Induced Pluripotent Stem Cell-Derived Neurons Contain a Transcriptional Network
Healthy brain function is mediated by several complementary signalling pathways, many of which are driven by extracellular vesicles (EVs). EVs are...
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Epicardial slices: an innovative 3D organotypic model to study epicardial cell physiology and activation
The epicardium constitutes an untapped reservoir for cardiac regeneration. Upon heart injury, the adult epicardium re-activates, leading to...
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PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation
BackgroundDyskeratosis congenita (DKC) and idiopathic aplastic anemia (AA) are bone marrow failure syndromes that share characteristics of premature...
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Causes of Congenital Malformations
Congenital malformations are structural abnormalities due to faulty development, present at birth, and amongst the major causes of prenatal,... -
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay–Sachs...
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Single-cell RNA sequencing reveals evolution of immune landscape during glioblastoma progression
Glioblastoma (GBM) is an incurable primary malignant brain cancer hallmarked with a substantial protumorigenic immune component. Knowledge of the GBM...
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Impact of viral presence in tumor on gene expression in non-small cell lung cancer
BackgroundIn our recent study, most non-small-lung cancer (NSCLC) tumor specimens harbored viral DNA but it was absent in non-neoplastic lung....
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Campylobacter Virulence Factors and Molecular Host–Pathogen Interactions
Campylobacter jejuni and Campylobacter coli can be frequently isolated from poultry and poultry-derived products, and in combination these two... -
Myelin plasticity: sculpting circuits in learning and memory
Throughout our lifespan, new sensory experiences and learning continually shape our neuronal circuits to form new memories. Plasticity at the level...
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Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)
CD is a rare, autosomal recessive neurometabolic disorder with often devastating clinical consequences. It typically presents in early infancy.... -
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and...
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Endogenous oxidized phospholipids reprogram cellular metabolism and boost hyperinflammation
Pathogen-associated molecular patterns (PAMPs) have the capacity to couple inflammatory gene expression to changes in macrophage metabolism, both of...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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Oligodendrocyte-specific ATF4 inactivation does not influence the development of EAE
BackgroundMultiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE), are inflammatory demyelinating and...
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Targeting nucleotide metabolism enhances the efficacy of anthracyclines and anti-metabolites in triple-negative breast cancer
Triple-negative breast cancer (TNBC) remains the most lethal breast cancer subtype with poor response rates to the current chemotherapies and a lack...
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Identification of the Pathogenic Biomarkers for Hepatocellular Carcinoma Based on RNA-seq Analyses
The purpose of this study was to explore potential biomarkers in the diagnosis of hepatocellular carcinoma (HCC) based on RNA-seq. The microarray...