124 results found
    1. Cancer Biology
    2. Genetics and Genomics

    Multi-syndrome, multi-gene risk modeling for individuals with a family history of cancer with the novel R package PanelPRO

    Gavin Lee et al.
    A comprehensive package for pedigree-based risk modeling, with a highly optimized computational back-end, extends existing models beyond syndrome-specific approaches and incorporates data from panel studies by allowing for an arbitrary number of gene and syndrome associations.
    1. Genetics and Genomics

    A confinable home-and-rescue gene drive for population modification

    Nikolay P Kandul et al.
    Generation of a home-and-rescue gene drive targeting an essential gene reveals confinable population modification.
    1. Neuroscience

    A quantitative framework for whole-body coordination reveals specific deficits in freely walking ataxic mice

    Ana S Machado et al.
    Analysis of 3D paw kinematics and whole-body coordination in freely walking mice isolates specific features of gait ataxia and supports the hypothesis that the cerebellum provides an internal forward model for motor control.
    1. Computational and Systems Biology
    2. Developmental Biology

    Vascular dimorphism ensured by regulated proteoglycan dynamics favors rapid umbilical artery closure at birth

    Sumeda Nandadasa et al.
    Morphologic, molecular, biomechanical and computational analyses show that the specialized extracellular matrix architecture of the umbilical artery contributes to its rapid closure at birth and regulates smooth muscle cell differentiation.
    1. Neuroscience

    Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

    Hala Harony-Nicolas et al.
    The production, validation and study of a novel rat model for Phelan McDermid Syndrome shows an ameliorative effect of oxytocin on both social and attentional deficits.
    1. Genetics and Genomics

    Utility of polygenic embryo screening for disease depends on the selection strategy

    Todd Lencz et al.
    Preimplantation screening of embryos using polygenic risk scores may substantially reduce risk for a given complex disease, but this effect depends on several quantifiable factors and raises significant ethical issues.
    1. Epidemiology and Global Health

    Development of a confinable gene drive system in the human disease vector Aedes aegypti

    Ming Li et al.
    Highly efficient and confinable split gene drives are a new tool for the control of the dengue mosquito vector.
    1. Neuroscience

    Relaxation of synaptic inhibitory events as a compensatory mechanism in fetal SOD spinal motor networks

    Pascal Branchereau et al.
    Electrophysiological and simulation approaches show that a chloride-related longer relaxation of the inhibitory synaptic events partially compensates the early defect in the chloride homeostasis detected in fetal SOD spinal motoneurons.
    1. Cell Biology
    2. Developmental Biology

    Loss of the transcription factor Meis1 prevents sympathetic neurons target-field innervation and increases susceptibility to sudden cardiac death

    Fabrice Bouilloux et al.
    The transcription factor Meis1 is a dedicated maintenance factor for sympathetic neurons and controls the expression of key genes involved in endosome trafficking.
    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.

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