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    • Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

    Publication Type: Academic Journal

    Source(s): Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)

    Abstract: Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stabili...

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    Cep55 regulation of PI3K/Akt signaling is required for neocortical development and ciliogenesis

    Publication Type: Academic Journal

    Source(s): PLoS Genetics, Vol 17, Iss 10 (2021)

    Abstract: Homozygous nonsense mutations in CEP55 are associated with several congenital malformations that lead to perinatal lethality suggesting that it plays a critical role in regulation of embryonic development. CEP55 has previously been studied as a crucial...

    Subjects:
    Neues aus Wissenschaft und Lehre der Heinrich-Heine-Universität Düsseldorf 2010

    Neues aus Wissenschaft und Lehre der Heinrich-Heine-Universität Düsseldorf 2010

    Publication Type: eBook

    Authors:
    Neues aus Wissenschaft und Lehre : Jahrbuch der Heinrich-Heine-Universität Düsseldorf 2008/2009

    Neues aus Wissenschaft und Lehre : Jahrbuch der Heinrich-Heine-Universität Düsseldorf 2008/2009

    Publication Type: eBook

    Authors:

    The Spindle-Associated Microcephaly Protein, WDR62, Is Required for Neurogenesis and Development of the Hippocampus

    Publication Type: Academic Journal

    Source(s): Frontiers in Cell and Developmental Biology, Vol 8 (2020)

    Abstract: Primary microcephaly genes (MCPH) are required for the embryonic expansion of the mammalian cerebral cortex. However, MCPH mutations may spare growth in other regions of the developing forebrain which reinforces context-dependent functions for distinct...

    Analysis of hippocampal-dependent learning and memory behaviour in mice lacking Nfix from adult neural stem cells

    Publication Type: Academic Journal

    Source(s): BMC Research Notes, Vol 11, Iss 1, Pp 1-6 (2018)

    Abstract: Abstract Objective The active place avoidance task (APA) is a behavioural task used to assess learning and memory in rodents. This task relies on the hippocampus, a region of the cerebral cortex capable of generating new neurons from neural stem cells....

    Heterozygosity for nuclear factor one x affects hippocampal-dependent behaviour in mice.

    Publication Type: Academic Journal

    Source(s): PLoS ONE, Vol 8, Iss 6, p e65478 (2013)

    Abstract: Identification of the genes that regulate the development and subsequent functioning of the hippocampus is pivotal to understanding the role of this cortical structure in learning and memory. One group of genes that has been shown to be critical for th...

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    Prevalence of physical frailty, including risk factors, up to 1 year after hospitalisation for COVID-19 in the UK: a multicentre, longitudinal cohort studyResearch in context

    Publication Type: Academic Journal

    Source(s): EClinicalMedicine, Vol 57, Iss , Pp 101896- (2023)

    Abstract: Summary: Background: The scale of COVID-19 and its well documented long-term sequelae support a need to understand long-term outcomes including frailty. Methods: This prospective cohort study recruited adults who had survived hospitalisation with clini...

    A cross-sectional examination of conflict-of-interest disclosures of physician-authors publishing in high-impact US medical journals

    Publication Type: Academic Journal

    Source(s): BMJ Open, Vol 12, Iss 4 (2022)

    Subjects:

    External validation and recalibration of an incidental meningioma prognostic model – IMPACT: protocol for an international multicentre retrospective cohort study

    Publication Type: Academic Journal

    Source(s): BMJ Open, Vol 12, Iss 1 (2022)

    Subjects:
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