349 results found
    1. Genetics and Genomics

    Novel genetic loci affecting facial shape variation in humans

    Ziyi Xiong et al.
    A comprehensive genome scan of 18,000 multi-ethnic individuals with 3-dimensional facial images highlighted multiple face-associated genetic loci for which regulatory activities in human neural cells were established.
    1. Neuroscience

    Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

    Swagata Ghatak et al.
    Increased excitation and decreased inhibition associated with abnormal neuronal morphology, aberrant ion channel properties, and synaptic dysfunction contribute to hyperexcitability in Alzheimer’s disease hiPSC-derived neuronal cultures and cerebral organoids.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease

    Matteo D'Antonio et al.
    Analysis of the major histocompatibility complex using whole genome sequencing and RNA-seq data from hundreds of individuals provides novel insights into mechanisms underlying associations of this interval with disease.
    1. Human Biology and Medicine
    2. Stem Cells and Regenerative Medicine

    Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction

    Shir Toubiana et al.
    Correction of the DNA methyltransferase 3B gene in ICF1 syndrome fails to rescue the abnormal DNA hypomethylation at subtelomeric regions due to accompanied epigenetic abnormalities in these regions.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Dynamic regulation of chromatin accessibility by pluripotency transcription factors across the cell cycle

    Elias T Friman et al.
    OCT4 and SOX2 display partially independent activity to regulate chromatin accessibility, and highly dynamic activity of OCT4 is required throughout the cell cycle to maintain pluripotency enhancer accessibility.
    1. Developmental Biology
    2. Human Biology and Medicine

    Induction of Sertoli-like cells from human fibroblasts by NR5A1 and GATA4

    Jianlin Liang et al.
    In vitro reprogramming of human fibroblasts to Sertoli-like cells with immunosuppressive properties provides platforms for basic research and clinical application.
    1. Cell Biology
    2. Structural Biology and Molecular Biophysics

    A microtranslatome coordinately regulates sodium and potassium currents in the human heart

    Catherine A Eichel et al.
    Association of mRNA in discrete, cotranslational complexes regulates currents controlling excitability in human cardiomyocytes.
    1. Cell Biology
    2. Developmental Biology

    Multiplex live single-cell transcriptional analysis demarcates cellular functional heterogeneity

    Ayhan Atmanli et al.
    A novel live-cell mRNA imaging technology identifies individual living cells based on their gene expression and enables the concurrent study of their physiology.
    1. Developmental Biology

    Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy

    Tai-Heng Chen, Jun-An Chen
    Summary review of microRNA roles during motor neuron generation and degeneration.
    1. Chromosomes and Gene Expression

    CTCF confers local nucleosome resiliency after DNA replication and during mitosis

    Nick Owens et al.
    In contrast to other transcription factors, CTCF and Esrrb rapidly regain binding after replication and remain bound to their targets during mitosis, preserving local nucleosome organization throughout the cell cycle.

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