2,425 results found
    1. Cell Biology

    Splicing variation of BMP2K balances abundance of COPII assemblies and autophagic degradation in erythroid cells

    Jaroslaw Cendrowski et al.
    Erythroid-enriched BMP2K kinase, in addition to its predicted function in endocytosis, regulates distribution and abundance of COPII assemblies and autophagic degradation through opposing actions of its two splicing variants.
    1. Genetics and Genomics

    Mutations primarily alter the inclusion of alternatively spliced exons

    Pablo Baeza-Centurion et al.
    Deep mutagenesis reveals that mutations rarely alter the inclusion of highly-included exons.
    1. Developmental Biology
    2. Neuroscience

    NOVA regulates Dcc alternative splicing during neuronal migration and axon guidance in the spinal cord

    Janelle C Leggere et al.
    Alternative splicing of the Dcc gene, which is controlled by the NOVA RNA-binding proteins, is crucial during neuronal migration and axon guidance.
    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. Neuroscience

    A circuit mechanism for decision-making biases and NMDA receptor hypofunction

    Sean Edward Cavanagh et al.
    Ketamine, an NMDA receptor antagonist and experimental model for schizophrenia, produces decision-making deficits in monkeys, which are predicted by a lowering of cortical excitation-inhibition balance in a spiking circuit model.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Genetic effects on promoter usage are highly context-specific and contribute to complex traits

    Kaur Alasoo et al.
    Re-analysis of large gene expression datasets with state-of-the-art quantification methods reveals additional candidate genes mediating complex trait associations.
    1. Developmental Biology
    2. Neuroscience

    Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2

    Verity Johnson et al.
    ROBO isoforms with minute sequence variations have significant and distinct functions in axon guidance.
    1. Cancer Biology
    2. Cell Biology

    A novel L1CAM isoform with angiogenic activity generated by NOVA2-mediated alternative splicing

    Francesca Angiolini et al.
    Endothelial cells express a soluble isoform of the L1CAM cell adhesion molecule that is generated by the splicing factor NOVA2 and induces angiogenesis, with relevant implications for ovarian cancer vascularization.
    1. Computational and Systems Biology
    2. Neuroscience

    Olfactory receptor neurons use gain control and complementary kinetics to encode intermittent odorant stimuli

    Srinivas Gorur-Shandilya et al.
    Olfactory receptor neurons adapt to odorant mean and variance and use complementary kinetics to preserve the timing of odorant encounters, despite adaptation slowing down transduction.
    1. Genetics and Genomics
    2. Neuroscience

    Hypothalamic transcriptomes of 99 mouse strains reveal trans eQTL hotspots, splicing QTLs and novel non-coding genes

    Yehudit Hasin-Brumshtein et al.
    In depth characterization of gene expression in the mouse hypothalamus will facilitate understanding of the molecular pathways that affect metabolic traits and discovers new genes associated with these pathways.

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