655 results found
    1. Genetics and Genomics
    2. Medicine

    Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

    Jeanne L Theis et al.
    Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    Intestinal microbiology shapes population health impacts of diet and lifestyle risk exposures in Torres Strait Islander communities

    Fredrick M Mobegi et al.
    Host-microbe interactions are an important influence on changing disease burdens in vulnerable remote communities.
    1. Biochemistry and Chemical Biology

    POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan

    Ameya S Walimbe et al.
    Protein O-Mannose Kinase enables Like-acetyl-glucosaminyltransferase 1 to elongate matriglycan on α-dystroglycan, thereby allowing matriglycan to function as a scaffold for extracellular matrix proteins and prevent muscular dystrophy.
    1. Cell Biology
    2. Developmental Biology

    Alstrom syndrome gene is a stem-cell-specific regulator of centriole duplication in the Drosophila testis

    Cuie Chen, Yukiko M Yamashita
    Alms1a is a centrosomal protein that exhibits asymmetric localization between mother and daughter centrosomes in asymmetrically dividing stem cells in Drosophila testis, controlling centriole duplication.
    1. Developmental Biology
    2. Neuroscience

    Establishment and maintenance of motor neuron identity via temporal modularity in terminal selector function

    Yinan Li et al.
    The terminal selector-type transcription factor UNC-3/Ebf partially modifies the suite of its target genes at different life stages to establish and maintain the identity of C. elegans motor neurons.
    1. Neuroscience

    CB1-receptor-mediated inhibitory LTD triggers presynaptic remodeling via protein synthesis and ubiquitination

    Hannah R Monday et al.
    CB1-receptor-mediated inhibitory long-term depression (LTD) relies on both protein synthesis and ubiquitination to elicit structural changes that underlie long-term reduction of GABA release.
    1. Developmental Biology
    2. Genetics and Genomics

    MondoA regulates gene expression in cholesterol biosynthesis-associated pathways required for zebrafish epiboly

    Meltem Weger et al.
    The glucose-sensing transcription factor MondoA regulates zebrafish epiboly via cholesterol biosynthesis genes including the human disease gene Nsdhl, revealing an unknown role for metabolic glucose signalling in vertebrate development.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Genetic mapping of etiologic brain cell types for obesity

    Pascal N Timshel et al.
    Unbiased computational integration of single-cell- and human genetics data shows that susceptibility to obesity is driven by a broad set of neuronal populations across the brain.
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Immunology and Inflammation
    2. Neuroscience

    miRNA profile is altered in a modified EAE mouse model of multiple sclerosis featuring cortical lesions

    Nicola S Orefice et al.
    A novel EAE model featuring cortical lesions and an autoimmune heterogeneity, two key parameters missing in the classical model, allows for insights in disease pathogenesis.

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