6,595 results found
    1. Microbiology and Infectious Disease

    Point of View: What next for gain-of-function research in Europe?

    Robin Fears, Volker ter Meulen
    A EASAC working group on gain-of-function research has emphasised the importance of ensuring that the necessary safeguards and policies are in place.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Neuroscience

    A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

    Elliot Imler et al.
    Genetic analysis of a CLN4 Drosophila model suggests that the disease-causing alleles act as dominant gain of function mutations that cause CSPα oligomerization and impair secretory and prelysosomal trafficking.
    1. Genetics and Genomics
    2. Neuroscience

    Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans

    Yung-Chi Huang et al.
    Caenorhabditis elegans studies indicate that gain-of-function mutations in the presynaptic voltage-gated calcium, associated with familial hemiplegic migraine in humans, result in excitatory-inhibitory imbalance in the nervous system.
    1. Neuroscience

    Loss of presenilin function is associated with a selective gain of APP function

    Carole Deyts et al.
    Amyloid precursor protein expression and accumulation of its intracellular fragment are required for exuberant neurite outgrowth associated with pathological presenilin 1 loss-of-function mutations before the emergence of amyloid burden in mice.
    1. Neuroscience

    Functional dissociation of stimulus intensity encoding and predictive coding of pain in the insula

    Stephan Geuter et al.
    Pain processing in certain brain regions implements predictive coding principles, offering a novel perspective on the neural basis of pain perception.
    1. Neuroscience

    The modulation of neural gain facilitates a transition between functional segregation and integration in the brain

    James M Shine et al.
    The flexible network architecture of the brain is sensitive to the modulation of neural gain, which may be mediated by ascending arousal nuclei, such as the noradrenergic locus coeruleus.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    Mapping influenza transmission in the ferret model to transmission in humans

    Michael G Buhnerkempe et al.
    Influenza transmission among ferrets correlates strongly with transmission among humans, so the ferret model for influenza transmission is a valid tool for pandemic potential in humans.
    1. Neuroscience

    Neurodegeneration: Fly model sheds light on brain disease

    Martin H Berryer et al.
    Experiments on flies suggest that a gain-of-function mechanism in a protein called CSPɑ contributes to the progressive brain disease CLN4.
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    1. Developmental Biology

    Essential role for SUN5 in anchoring sperm head to the tail

    Yongliang Shang et al.
    SUN5 is essential for the tight junction between sperm head and the head-tail coupling apparatus, and is the main cause of human acephalic spermatozoa syndrome.

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