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Showing 61-80 of 302 results
  1. An in vivo accelerated developmental myelination model for testing promyelinating therapeutics

    Background

    Therapeutic agents stimulating the process of myelination could be beneficial for the treatment of demyelinating diseases, such as multiple...

    Karen Lariosa-Willingham, Dmitri Leonoudakis, ... Diana Miszczuk in BMC Neuroscience
    Article Open access 25 May 2022
  2. 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...

    Juan L. Rodriguez-Flores, Radja Messai-Badji, ... Ronald G. Crystal in npj Genomic Medicine
    Article Open access 19 January 2022
  3. 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,...

    Benjamin E. Deverman, Bernard M. Ravina, ... Dinah W. Y. Sah in Nature Reviews Drug Discovery
    Article 10 August 2018
  4. 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...

    David A. Hicks, Alys C. Jones, ... Nigel M. Hooper in Neurochemical Research
    Article Open access 02 May 2020
  5. 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...

    D. Maselli, R. S. Matos, ... P. Campagnolo in npj Regenerative Medicine
    Article Open access 17 January 2022
  6. PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation

    Background

    Dyskeratosis congenita (DKC) and idiopathic aplastic anemia (AA) are bone marrow failure syndromes that share characteristics of premature...

    Olivia Cypris, Monika Eipel, ... Wolfgang Wagner in Clinical Epigenetics
    Article Open access 20 August 2020
  7. Causes of Congenital Malformations

    Congenital malformations are structural abnormalities due to faulty development, present at birth, and amongst the major causes of prenatal,...
    Martin Lammens, Mireille Bekker, ... Hans J. ten Donkelaar in Clinical Neuroembryology
    Chapter 2023
  8. 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...

    Anthony R. Gregg, Mahmoud Aarabi, ... Jeffrey S. Dungan in Genetics in Medicine
    Article 20 July 2021
  9. 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...

    Alan T. Yeo, Shruti Rawal, ... Al Charest in Nature Immunology
    Article Open access 27 May 2022
  10. Impact of viral presence in tumor on gene expression in non-small cell lung cancer

    Background

    In our recent study, most non-small-lung cancer (NSCLC) tumor specimens harbored viral DNA but it was absent in non-neoplastic lung....

    Youngchul Kim, Christine M. Pierce, Lary A. Robinson in BMC Cancer
    Article Open access 22 August 2018
  11. 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...
    Nicole Tegtmeyer, Irshad Sharafutdinov, ... Steffen Backert in Fighting Campylobacter Infections
    Chapter 2021
  12. 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...

    Wendy Xin, Jonah R. Chan in Nature Reviews Neuroscience
    Article 12 October 2020
  13. 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....
    Jörn Oliver Sass, Ina Knerr in Human Pathobiochemistry
    Chapter 2019
  14. 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...

    C. George Priya Doss, Hatem Zayed in Metabolic Brain Disease
    Article 06 September 2017
  15. Pathophysiology and Treatment of Canavan Disease

    David Pleasure, Fuzheng Guo, ... Vanessa Hull in Neurochemical Research
    Article 08 December 2018
  16. 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...

    Marco Di Gioia, Roberto Spreafico, ... Ivan Zanoni in Nature Immunology
    Article 25 November 2019
  17. 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...

    Yanqiu Liu, Liangwei Mao, ... Xiaoming Wei in Human Genome Variation
    Article Open access 22 May 2023
  18. Oligodendrocyte-specific ATF4 inactivation does not influence the development of EAE

    Background

    Multiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE), are inflammatory demyelinating and...

    Yuan Yue, Milos Stanojlovic, ... Wensheng Lin in Journal of Neuroinflammation
    Article Open access 01 February 2019
  19. 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...

    Craig Davison, Roisin Morelli, ... Melissa J. LaBonte in npj Breast Cancer
    Article Open access 06 April 2021
  20. 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...

    Wentao Jiang, Li Zhang, ... Chiyi Chen in Pathology & Oncology Research
    Article 24 January 2019
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