144 results found
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

    Teresa Romeo Luperchio et al.
    Chromatin/transcriptome profiling in multiple mouse models with mutations in epigenetic machinery (EM) reveals shared abnormalities including many IgA-relevant genes, indicating that this kind of joint analysis may elucidate the multigenic nature of EM disorders.
    1. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Ecology

    Point of View: A transatlantic perspective on 20 emerging issues in biological engineering

    Bonnie C Wintle et al.
    Horizon scanning has been used to identify opportunities and risks presented by 20 emerging issues in the field of biological engineering.
    1. Evolutionary Biology
    Mouse illustration

    The Natural History of Model Organisms: Insights into mammalian biology from the wild house mouse Mus musculus

    Megan Phifer-Rixey, Michael W Nachman
    Studies of the house mouse Mus musculus have provided important insights into mammalian biology, and efforts to study wild house mice and to create new inbred strains from wild populations have the potential to increase its usefulness as a model system.
    1. Neuroscience

    Isoform-specific roles for AKT in affective behavior, spatial memory, and extinction related to psychiatric disorders

    Helen Wong et al.
    Murine behavioral testing and biochemical experiments reveal AKT isoform- and sex-dependent mechanisms regulating affective behavior, memory formation, and extinction.
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Cell Biology
    2. Genetics and Genomics

    A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

    Dana M Talsness et al.
    An ion transporter is hyperglycosylated and 50% less functional in NGLY1-deficient cells, potentially explaining several symptoms of NGLY1 deficiency such as lack of sweat and tears.

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