80 results found
    1. Neuroscience

    FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory

    Kirsty Sawicka, Caryn R Hale ... Robert B Darnell
    Identifying FMRP-bound mRNAs in hippocampal CA1 pyramidal neurons reveals cell-type specific regulation of autism-candidate and circadian mRNAs and FMRP-mediated control of memory across the circadian cycle.
    1. Neuroscience

    A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation

    Harvey Perez, May F Abdallah ... Paul J Mathews
    Progressive changes in Purkinje neuron perturbations and overall cerebellar atrophy correlate for the first time with the development of an overt loss of motor function in a novel mouse model of Ataxia Telangiectasia.
    1. Genetics and Genomics

    Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease

    Doo Eun Choi, Jun Wan Shin ... Jong-Min Lee
    Uninterrupted CAG repeat length determines onset age in Huntington's disease, and therefore, base editing strategies to generate CAA interruption offer new therapeutic opportunities as they diminish the disease-causing mutation.
    1. Evolutionary Biology

    The genetic architecture of gene expression levels in wild baboons

    Jenny Tung, Xiang Zhou ... Yoav Gilad
    RNA sequencing of individuals within a wild baboon population reveals extensive power to detect functional regulatory variation, and suggests that the set of genes affected by such variation may be conserved across species.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    Development of antibody-dependent cell cytotoxicity function in HIV-1 antibodies

    Laura E Doepker, Sonja Danon ... Julie M Overbaugh
    HIV-specific antibodies that mediate antibody-dependent cellular cytotoxicity vary in their paths to achieve function but commonly rely on mutations in multiple regions, including framework regions, to reach full potency.
    1. Chromosomes and Gene Expression
    2. Microbiology and Infectious Disease

    ATRX promotes maintenance of herpes simplex virus heterochromatin during chromatin stress

    Joseph M Cabral, Hyung Suk Oh, David M Knipe
    Epigenetic restriction of herpes simplex virus occurs in a biphasic manner, in which ATRX maintains viral heterochromatin after an initial phase of chromatin deposition.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genetics of trans-regulatory variation in gene expression

    Frank Wolfgang Albert, Joshua S Bloom ... Leonid Kruglyak
    A genetic mapping study in more than 1000 yeast individuals reveals the complexity of trans-acting genetic influences on transcriptome variation in unprecedented depth and detail.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Association mapping from sequencing reads using k-mers

    Atif Rahman, Ingileif Hallgrímsdóttir ... Lior Pachter
    Associations can be mapped using k-mer frequencies in sequencing reads without prior sequencing of a reference genome enabling detection of associations to variants of multiple types and outside of the reference.
    1. Immunology and Inflammation

    A population of innate myelolymphoblastoid effector cell expanded by inactivation of mTOR complex 1 in mice

    Fei Tang, Peng Zhang ... Pan Zheng
    A novel population of hematopoietic cells unmasked by mTORC1 inactivation reveals a new mechanism of innate immune tolerance and a new consequence of defective hematopoiesis.

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