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  1. Human Prion Disease Surveillance

    Human prion diseases are characterized by rapid fatal neurodegeneration caused by pathologic prion proteins that are transmissible under specific...
    Brian S. Appleby, Lawrence B. Schonberger, Ermias D. Belay in Prions and Diseases
    Chapter 2023
  2. Emerging Human Pluripotent Stem Cell-Based Human–Animal Brain Chimeras for Advancing Disease Modeling and Cell Therapy for Neurological Disorders

    Human pluripotent stem cell (hPSC) models provide unprecedented opportunities to study human neurological disorders by recapitulating human-specific...

    Yanru Ji, Jenna Lillie McLean, Ranjie Xu in Neuroscience Bulletin
    Article 11 March 2024
  3. Modeling Alzheimer’s Disease Using Human Brain Organoids

    Alzheimer’s disease (AD) is the primary cause of dementia, to date. The urgent need to understand the biological and biochemical processes related to...
    Karina Karmirian, Mariana Holubiec, ... Stevens Rehen in Alzheimer’s Disease
    Protocol 2023
  4. Human iPSC-derived Disease Models for Drug Discovery

    Since their development a decade ago, human induced pluripotent stem cells (iPSC) have revolutionized the study of human disease, given rise to...
    Markus H. Kuehn, Wei Zhu in Handbook of Experimental Pharmacology
    Book 2023
  5. Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells

    Congenital heart disease (CHD) is a leading cause of birth defect-related death. Despite significant advances, the mechanisms underlying the...
    Hao Zhang, Joseph C. Wu in Congenital Heart Diseases: The Broken Heart
    Chapter 2024
  6. Resistome expansion in disease-associated human gut microbiomes

    Background

    The resistome, the collection of antibiotic resistance genes (ARGs) in a microbiome, is increasingly recognised as relevant to the...

    Simen Fredriksen, Stef de Warle, ... Jerry M. Wells in Microbiome
    Article Open access 29 July 2023
  7. Human antibody profiling technologies for autoimmune disease

    Autoimmune diseases are caused by the break-down in self-tolerance mechanisms and can result in the generation of autoantibodies specific to human...

    Lauren H. Carlton, Reuben McGregor, Nicole J. Moreland in Immunologic Research
    Article Open access 24 January 2023
  8. The Spectrum of Tau Pathology in Human Prion Disease

    Intracellular deposition of hyperphosphorylated tau characterizes tauopathies: there is a spectrum from neuron-predominant through mixed neuronal and...
    Gabor G. Kovacs, Herbert Budka in Prions and Diseases
    Chapter 2023
  9. Animal Models for the Study of Human Disease

    The use of conventional healthy animals (CHAs) has long been a mainstay of nonclinical safety testing as well as evaluation of efficacy of new...
    Sherry J. Morgan, Julie A. Hutt, Radhakrishna Sura in The Quintessence of Basic and Clinical Research and Scientific Publishing
    Chapter 2023
  10. Sporadic Creutzfeldt–Jakob disease infected human cerebral organoids retain the original human brain subtype features following transmission to humanized transgenic mice

    Human cerebral organoids (COs) are three-dimensional self-organizing cultures of cerebral brain tissue differentiated from induced pluripotent stem...

    Bradley R. Groveman, Brent Race, ... Cathryn L. Haigh in Acta Neuropathologica Communications
    Article Open access 14 February 2023
  11. Xenografted human microglia display diverse transcriptomic states in response to Alzheimer’s disease-related amyloid-β pathology

    Microglia are central players in Alzheimer’s disease pathology but analyzing microglial states in human brain samples is challenging due to genetic...

    Renzo Mancuso, Nicola Fattorelli, ... Bart De Strooper in Nature Neuroscience
    Article Open access 27 March 2024
  12. The Impact of Climate Change on Human Fungal Pathogen Distribution and Disease Incidence

    Purpose of Review

    This review aims to compile the current knowledge on the impact of climate change on human pathogenic fungi. Ongoing surveillance of...

    Paris Salazar-Hamm, Terry J. Torres-Cruz in Current Clinical Microbiology Reports
    Article 22 March 2024
  13. Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

    Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are...

    Blake M. Hauser, Yuyang Luo, ... Elizabeth J. Rossin in npj Genomic Medicine
    Article Open access 27 May 2024
  14. Syncytin-1, syncytin-2 and suppressyn in human health and disease

    In this review, we summarized the results of experimental and clinical studies about three human endogenous retroviruses and their...

    Petra Priščáková, Michal Svoboda, ... Lajos Gergely in Journal of Molecular Medicine
    Article Open access 19 October 2023
  15. Chromatin modifiers in human disease: from functional roles to regulatory mechanisms

    The field of transcriptional regulation has revealed the vital role of chromatin modifiers in human diseases from the beginning of functional...

    Yali Nie, Chao Song, ... Huifang Tang in Molecular Biomedicine
    Article Open access 08 April 2024
  16. Interpreting non-coding disease-associated human variants using single-cell epigenomics

    Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence variants in the human genome to common traits and diseases....

    Kyle J. Gaulton, Sebastian Preissl, Bing Ren in Nature Reviews Genetics
    Article 09 May 2023
  17. Alzheimer’s Disease Methods and Protocols

    This volume explores the latest techniques used to study the human brain towards understanding Alzheimer’s Disease and related neurodegenerative...
    Book 2023
  18. Common mouse models of tauopathy reflect early but not late human disease

    Background

    Mouse models that overexpress human mutant Tau (P301S and P301L) are commonly used in preclinical studies of Alzheimer’s Disease (AD) and...

    Kathrin Wenger, Arthur Viode, ... Judith A. Steen in Molecular Neurodegeneration
    Article Open access 02 February 2023
  19. Prominent and conspicuous astrocyte atrophy in human sporadic and familial Alzheimer’s disease

    Pathophysiology of sporadic Alzheimer’s disease (SAD) and familial Alzheimer’s disease (FAD) remains poorly known, including the exact role of...

    J. J. Rodríguez, F. Zallo, ... X. Busquets in Brain Structure and Function
    Article Open access 20 September 2023
  20. Bovine Paratuberculosis and Human Crohn’s Disease: Is There a Zoonotic Linkage?

    Mycobacterium avium ssp. paratuberculosis (MAP) is an acid-fast bacterium, which causes paratuberculosis, an infectious enteric disease of ruminants,...
    Bernhard Hobmaier, Erdmute Neuendorf, Nikolaus Ackermann in Zoonoses: Infections Affecting Humans and Animals
    Living reference work entry 2023
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