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  1. Book ; Online ; E-Book: Preclinical research in Down syndrome

    Dierssen, Mara

    insights for pathophysiology and treatments

    (Progress in brain research ; Volume 251)

    2020  

    Author's details edited by Mara Dierssen
    Series title Progress in brain research ; Volume 251
    Keywords Down syndrome ; PSYCHOLOGY/Neuropsychology ; SCIENCE/Life Sciences/Neuroscience
    Subject code 616.858842
    Language English
    Size 1 online resource (320 pages) :, illustrations.
    Edition First edition.
    Publisher Academic Press, Elsevier
    Publishing place Cambridge, Massachusetts
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    ISBN 0-444-64257-9 ; 0-444-64256-0 ; 978-0-444-64257-8 ; 978-0-444-64256-1
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  2. Book ; Online: Brain Insulin Resistance in Neurodevelopmental and Neurodegenerative Disorders: Mind the Gap!

    Barone, Eugenio / Dierssen, Mara

    2021  

    Keywords Science: general issues ; Neurosciences ; insulin resistance ; neurodevelopment ; neurodegeneration ; metabolism ; diabetes
    Size 1 electronic resource (157 pages)
    Publisher Frontiers Media SA
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT021230838
    ISBN 9782889634576 ; 2889634574
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Book: Understanding the human brain through mouse models

    Dierssen, Mara

    (Genes, brain and behavior ; 6, Suppl. 1)

    2007  

    Author's details guest ed.: Mara Dierssen
    Series title Genes, brain and behavior ; 6, Suppl. 1
    Collection
    Language English
    Size 52 S. : graph. Darst.
    Publisher Blackwell
    Publishing place Oxford
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT015184239
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 5642 -6,Suppl.1- not available for loan Zeitschriften-Lesesaal

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  4. Article ; Online: Top ten discoveries of the year: Neurodevelopmental disorders.

    Dierssen, Mara

    Free neuropathology

    2020  Volume 1

    Abstract: Developmental brain disorders, a highly heterogeneous group of disorders with a prevalence of around 3% of worldwide population, represent a growing medical challenge. They are characterized by impaired neurodevelopmental processes leading to deficits in ...

    Abstract Developmental brain disorders, a highly heterogeneous group of disorders with a prevalence of around 3% of worldwide population, represent a growing medical challenge. They are characterized by impaired neurodevelopmental processes leading to deficits in cognition, social interaction, behavior and motor functioning as a result of abnormal development of brain. This can include developmental brain dysfunction, which can manifest as neuropsychiatric problems or impaired motor function, learning, language or non-verbal communication. Several of these phenotypes can often co-exist in the same patient and characterize the same disorder. Here I discuss some contributions in 2019 that are shaking our basic understanding of the pathogenesis of neurodevelopmental disorders. Recent developments in sophisticated
    Language English
    Publishing date 2020-04-15
    Publishing country Germany
    Document type Journal Article
    ISSN 2699-4445
    ISSN (online) 2699-4445
    DOI 10.17879/freeneuropathology-2020-2672
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome.

    Fernández-Blanco, Álvaro / Sierra, Cèsar / Tejido, Clara / Dierssen, Mara

    International journal of molecular sciences

    2024  Volume 25, Issue 6

    Abstract: Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages in DS brains. However, most studies resulted in simplistic definitions of microglia as ... ...

    Abstract Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages in DS brains. However, most studies resulted in simplistic definitions of microglia as quiescent or active, ignoring potential intermediate states. Indeed, recent work on microglial cells in young DS brains indicated that those evolve through different intermediate activation phenotypes before reaching a fully activated state. Here we used single nucleus RNA sequencing, to examine how trisomy affects microglial states in the Ts65Dn mouse model of DS. Despite no substantial changes in the proportion of glial populations, differential expression analysis revealed cell type-specific gene expression changes, most notably in astroglia, microglia, and oligodendroglia. Focusing on microglia, we identified differential expression of genes associated with different microglial states, including disease-associated microglia (DAMs), activated response microglia (ARMs), and human Alzheimer's disease microglia (HAMs), in trisomic microglia. Furthermore, pseudotime analysis reveals a unique reactivity profile in Ts65Dn microglia, with fewer in a homeostatic state and more in an intermediate aberrantly reactive state than in euploid microglia. This comprehensive understanding of microglial transcriptional dynamics sheds light on potential pathogenetic mechanisms but also possible avenues for therapy for neurodevelopmental disorders.
    MeSH term(s) Animals ; Mice ; Humans ; Microglia/metabolism ; Down Syndrome/metabolism ; Gene Expression Profiling ; Alzheimer Disease/metabolism ; Neuroglia/metabolism
    Language English
    Publishing date 2024-03-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25063289
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Editorial: Brain Insulin Resistance in Neurodevelopmental and Neurodegenerative Disorders: Mind the Gap!

    Dierssen, Mara / Barone, Eugenio

    Frontiers in neuroscience

    2021  Volume 15, Page(s) 730378

    Language English
    Publishing date 2021-08-10
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2411902-7
    ISSN 1662-453X ; 1662-4548
    ISSN (online) 1662-453X
    ISSN 1662-4548
    DOI 10.3389/fnins.2021.730378
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Neurodevelopmental disorders: 2023 update.

    Carriba, Paulina / Lorenzón, Nicola / Dierssen, Mara

    Free neuropathology

    2023  Volume 4

    Abstract: Several advances in the field of neurodevelopmental diseases (NDDs) have been reported by 2022. Of course, NDDs comprise a diverse group of disorders, most of which with different aetiologies. However, owing to the development and consolidation of ... ...

    Abstract Several advances in the field of neurodevelopmental diseases (NDDs) have been reported by 2022. Of course, NDDs comprise a diverse group of disorders, most of which with different aetiologies. However, owing to the development and consolidation of technological approaches, such as proteomics and RNA-sequencing, and to the improvement of brain organoids along with the introduction of artificial intelligence (AI) for biodata analysis, in 2022 new aetiological mechanisms for some NDDs have been proposed. Here, we present hints of some of these findings. For instance, centrioles regulate neuronal migration and could be behind the aetiology of periventricular heterotopia; also, the accumulation of misfolded proteins could explain the neurological effects in COVID-19 patients; and, autism spectrum disorders (ASD) could be the expression of altered cortical arealization. We also cover other interesting aspects as the description of a new NDD characterized by deregulation of genes involved in stress granule (SG) assemblies, or the description of a newly discovered neural progenitor that explains the different phenotypes of tumours and cortical tubers in tuberous sclerosis complex (TSC) disease; and how it is possible to decipher the aetiology of sudden unexplained death in childhood (SUDC) or improve the diagnosis of cortical malformations using formalin-fixed paraffin-embedded samples.
    Language English
    Publishing date 2023-05-08
    Publishing country Germany
    Document type Journal Article
    ISSN 2699-4445
    ISSN (online) 2699-4445
    DOI 10.17879/freeneuropathology-2023-4701
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Network analysis of Down syndrome and SARS-CoV-2 identifies risk and protective factors for COVID-19.

    De Toma, Ilario / Dierssen, Mara

    Scientific reports

    2021  Volume 11, Issue 1, Page(s) 1930

    Abstract: SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections with respiratory ... ...

    Abstract SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections with respiratory complications and present signs of auto-inflammation. They also present with multiple comorbidities that are associated with poorer COVID-19 prognosis in the general population. All this might place DS individuals at higher risk of SARS-CoV-2 infection or poorer clinical outcomes. In order to get insight into the interplay between DS genes and SARS-cov2 infection and pathogenesis we identified the genes associated with the molecular pathways involved in COVID-19 and the host proteins interacting with viral proteins from SARS-CoV-2. We then analyzed the overlaps of these genes with HSA21 genes, HSA21 interactors and other genes consistently differentially expressed in DS (using public transcriptomic datasets) and created a DS-SARS-CoV-2 network. We detected COVID-19 protective and risk factors among HSA21 genes and interactors and/or DS deregulated genes that might affect the susceptibility of individuals with DS both at the infection stage and in the progression to acute respiratory distress syndrome. Our analysis suggests that at the infection stage DS individuals might be more susceptible to infection due to triplication of TMPRSS2, that primes the viral S protein for entry in the host cells. However, as the anti-viral interferon I signaling is also upregulated in DS, this might increase the initial anti-viral response, inhibiting viral genome release, viral replication and viral assembly. In the second pro-inflammatory immunopathogenic phase of the infection, the prognosis for DS patients might worsen due to upregulation of inflammatory genes that might favor the typical cytokine storm of COVID-19. We also detected strong downregulation of the NLRP3 gene, critical for maintenance of homeostasis against pathogenic infections, possibly leading to bacterial infection complications.
    MeSH term(s) COVID-19/epidemiology ; COVID-19/genetics ; COVID-19/immunology ; COVID-19/metabolism ; Cytokine Release Syndrome/immunology ; Down Syndrome/epidemiology ; Down Syndrome/genetics ; Down Syndrome/immunology ; Down Syndrome/virology ; Gene Regulatory Networks ; Host Microbial Interactions ; Humans ; Inflammation/immunology ; Pandemics ; Protective Factors ; Risk Factors ; SARS-CoV-2/genetics ; SARS-CoV-2/isolation & purification ; Serine Endopeptidases/genetics ; Serine Endopeptidases/metabolism ; Transcriptome/genetics
    Chemical Substances Serine Endopeptidases (EC 3.4.21.-) ; TMPRSS2 protein, human (EC 3.4.21.-)
    Language English
    Publishing date 2021-01-21
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-021-81451-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Fluorescent transgenic mouse models for whole-brain imaging in health and disease.

    Arias, Adrian / Manubens-Gil, Linus / Dierssen, Mara

    Frontiers in molecular neuroscience

    2022  Volume 15, Page(s) 958222

    Abstract: A paradigm shift is occurring in neuroscience and in general in life sciences converting biomedical research from a descriptive discipline into a quantitative, predictive, actionable science. Living systems are becoming amenable to quantitative ... ...

    Abstract A paradigm shift is occurring in neuroscience and in general in life sciences converting biomedical research from a descriptive discipline into a quantitative, predictive, actionable science. Living systems are becoming amenable to quantitative description, with profound consequences for our ability to predict biological phenomena. New experimental tools such as tissue clearing, whole-brain imaging, and genetic engineering technologies have opened the opportunity to embrace this new paradigm, allowing to extract anatomical features such as cell number, their full morphology, and even their structural connectivity. These tools will also allow the exploration of new features such as their geometrical arrangement, within and across brain regions. This would be especially important to better characterize brain function and pathological alterations in neurological, neurodevelopmental, and neurodegenerative disorders. New animal models for mapping fluorescent protein-expressing neurons and axon pathways in adult mice are key to this aim. As a result of both developments, relevant cell populations with endogenous fluorescence signals can be comprehensively and quantitatively mapped to whole-brain images acquired at submicron resolution. However, they present intrinsic limitations: weak fluorescent signals, unequal signal strength across the same cell type, lack of specificity of fluorescent labels, overlapping signals in cell types with dense labeling, or undetectable signal at distal parts of the neurons, among others. In this review, we discuss the recent advances in the development of fluorescent transgenic mouse models that overcome to some extent the technical and conceptual limitations and tradeoffs between different strategies. We also discuss the potential use of these strains for understanding disease.
    Language English
    Publishing date 2022-09-23
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2022.958222
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Network analysis of Down syndrome and SARS-CoV-2 identifies risk and protective factors for COVID-19

    Ilario De Toma / Mara Dierssen

    Scientific Reports, Vol 11, Iss 1, Pp 1-

    2021  Volume 12

    Abstract: Abstract SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections with ... ...

    Abstract Abstract SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections with respiratory complications and present signs of auto-inflammation. They also present with multiple comorbidities that are associated with poorer COVID-19 prognosis in the general population. All this might place DS individuals at higher risk of SARS-CoV-2 infection or poorer clinical outcomes. In order to get insight into the interplay between DS genes and SARS-cov2 infection and pathogenesis we identified the genes associated with the molecular pathways involved in COVID-19 and the host proteins interacting with viral proteins from SARS-CoV-2. We then analyzed the overlaps of these genes with HSA21 genes, HSA21 interactors and other genes consistently differentially expressed in DS (using public transcriptomic datasets) and created a DS-SARS-CoV-2 network. We detected COVID-19 protective and risk factors among HSA21 genes and interactors and/or DS deregulated genes that might affect the susceptibility of individuals with DS both at the infection stage and in the progression to acute respiratory distress syndrome. Our analysis suggests that at the infection stage DS individuals might be more susceptible to infection due to triplication of TMPRSS2, that primes the viral S protein for entry in the host cells. However, as the anti-viral interferon I signaling is also upregulated in DS, this might increase the initial anti-viral response, inhibiting viral genome release, viral replication and viral assembly. In the second pro-inflammatory immunopathogenic phase of the infection, the prognosis for DS patients might worsen due to upregulation of inflammatory genes that might favor the typical cytokine storm of COVID-19. We also detected strong downregulation of the NLRP3 gene, critical for maintenance of homeostasis against pathogenic infections, possibly leading to ...
    Keywords Medicine ; R ; Science ; Q
    Subject code 572
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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