702 results found
    1. Evolutionary Biology

    Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants

    Chenlu Di et al.
    Harmful genetic variants at mendelian disease genes slow down adaptation, by interfering with the spread of adaptive variants in a population.
    1. Neuroscience

    Experience-dependent weakening of callosal synaptic connections in the absence of postsynaptic FMRP

    Zhe Zhang et al.
    Postnatal, postsynaptic loss of FMRP specifically weakens callosal synaptic inputs onto L2/3 pyramidal neurons, in requirement ofnormal sensory experience, through downregulating AMPA receptor transmission and without affecting local synaptic inputs during cortical circuit development.
    1. Structural Biology and Molecular Biophysics

    Structure of mycobacterial CIII2CIV2 respiratory supercomplex bound to the tuberculosis drug candidate telacebec (Q203)

    David J Yanofsky et al.
    The structure of the Mycobacterium smegmatis CIII2CIV2 respiratory supercomplex with telacebec (Q203) bound shows how this tuberculosis drug candidate blocks respiration in mycobacteria.
    1. Immunology and Inflammation

    Microglia and CD206+ border-associated mouse macrophages maintain their embryonic origin during Alzheimer’s disease

    Xiaoting Wu et al.
    Inducible fate-mapping analysis demonstrates that neither microglia, CD11c+ activated microglia nor border-associated macrophages are replenished by bone marrow-derived cells in Alzheimer’s disease.
    1. Cell Biology
    2. Neuroscience

    TRPM7 is critical for short-term synaptic depression by regulating synaptic vesicle endocytosis

    Zhong-Jiao Jiang et al.
    Electrophysiological and live-cell imaging analyses identify a presynaptic function of Ca2+ influx via transient receptor potential melastatin 7 (TRPM7) channels.
    1. Neuroscience

    ASIC1a is required for neuronal activation via low-intensity ultrasound stimulation in mouse brain

    Jormay Lim et al.
    Mouse brain neurons response to transcranial ultrasound at the energy level of 5 mW/cm2 and repeated stimulations lead to neurogenesis while ASIC1a is required both in vitro and in vivo as one of the mechanoreceptors.
    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. Cell Biology

    Protective mitochondrial fission induced by stress-responsive protein GJA1-20k

    Daisuke Shimura et al.
    Stress-induced alternative translation of an otherwise common gap junction protein generates an isoform that orchestrates protective mitochondrial fission and organ protection during anticipated ischemia.
    1. Genetics and Genomics
    2. Medicine

    SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

    Emanuela Abiusi et al.
    The identification of SMA-miR supports the pathogenic role of skeletal muscle in spinal muscular atrophy and, integrated in the SMA-score, may help to improve the phenotypic prediction for patients.

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