280 results found
    1. Cell Biology
    2. Neuroscience

    Downregulation of Dickkopf-3, a Wnt antagonist elevated in Alzheimer’s disease, restores synapse integrity and memory in a disease mouse model

    Nuria Martin Flores, Marina Podpolny ... Patricia C Salinas
    The Wnt antagonist DKK3 is a key regulator of excitatory and inhibitory synapses, and its downregulation in the hippocampus restores synaptic connectivity and memory in an Alzheimer's disease mouse model.
    1. Genetics and Genomics

    Age and diet shape the genetic architecture of body weight in diversity outbred mice

    Kevin M Wright, Andrew G Deighan ... Anil Raj
    Genetic effects on body weight in mice are highly heterogeneous, dynamic, and nonlinear with respect to genomic background, age, and diet.
    1. Genetics and Genomics
    2. Neuroscience

    Transcriptional cartography integrates multiscale biology of the human cortex

    Konrad Wagstyl, Sophie Adler ... Armin Raznahan
    An atlas of cortical expression for 20,781 genes in the adult human brain, validated against multiscale datasets, from neuroimaging measures of structure and function to molecular cell and layer markers.
    1. Neuroscience

    Regulation of hippocampal mossy fiber-CA3 synapse function by a Bcl11b/C1ql2/Nrxn3(25b+) pathway

    Artemis Koumoundourou, Märt Rannap ... Stefan Britsch
    Molecular genetic, cell culture as well as electrophysiological analyses reveal a C1ql2/Neurexin3(25b+)-dependent molecular pathway through which Bcl11b controls critical functions of adult hippocampal mossy fiber synapses.
    1. Genetics and Genomics

    Background selection and biased gene conversion affect more than 95% of the human genome and bias demographic inferences

    Fanny Pouyet, Simon Aeschbacher ... Laurent Excoffier
    Background selection and GC-biased gene conversion impact the human genome to a much larger extent than previously recognized in low and high recombination rate regions, respectively.
    1. Evolutionary Biology

    Pervasive relaxed selection on spermatogenesis genes coincident with the evolution of polygyny in gorillas

    Jacob D. Bowman, Neide Silva ... Vincent J. Lynch
    Not revised
    Reviewed Preprint v1
    • Important
    • Incomplete
    1. Evolutionary Biology
    2. Genetics and Genomics

    Efficient estimation for large-scale linkage disequilibrium patterns of the human genome

    Xin Huang, Tian-Neng Zhu ... Guo-Bo Chen
    Leveraging the X-LD method for estimating inter-chromosomal linkage disequilibrium in the human genome uncovers a universal extended LD pattern, consistent with observations in 1KG cohorts.
    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner, Abeer Abbasi ... Shai Berlin
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    1. Structural Biology and Molecular Biophysics
    2. Biochemistry and Chemical Biology

    A pathogenic human Orai1 mutation unmasks STIM1-independent rapid inactivation of Orai1 channels

    Priscilla S-W Yeung, Megumi Yamashita, Murali Prakriya
    A human Orai1 mutation linked to tubular myopathy activates Orai1 channels independently of STIM1 and unmasks calcium-dependent inactivation of Orai1 channels.
    1. Developmental Biology

    DAZL mediates a broad translational program regulating expansion and differentiation of spermatogonial progenitors

    Maria M Mikedis, Yuting Fan ... David C Page
    DAZL promotes male fertility by enhancing the protein expression of thousands of genes to facilitate expansion and differentiation of transit-amplifying spermatogonia in the testes.

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