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    1. Genetics and Genomics
    2. Stem Cells and Regenerative Medicine

    The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

    Cheen Euong Ang et al.
    lnc-Nr2f1, a long non-coding RNA focally deleted in autism patients, directly occupies and regulates neuronal genes.
    1. Stem Cells and Regenerative Medicine
    2. Chromosomes and Gene Expression

    Polycomb enables primitive endoderm lineage priming in embryonic stem cells

    Robert S Illingworth et al.
    Polycomb enables lineage priming in mouse embryonic stem cells by establishing a barrier to commitment.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Chromosome mis-segregation and cytokinesis failure in trisomic human cells

    Joshua M Nicholson et al.
    Aneuploidy can cause chromosome mis-segregation and specific cellular phenotypes driven by expression of genes on the extra chromosome.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    Cancer-associated TERT promoter mutations abrogate telomerase silencing

    Kunitoshi Chiba et al.
    TERT promoter mutations impair TERT silencing upon cellular differentiation and are sufficient to facilitate cellular immortalization without additional tumor selected changes, explaining why they are associated with a very specific tumor spectrum.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Aneuploidy as a cause of impaired chromatin silencing and mating-type specification in budding yeast

    Wahid A Mulla et al.
    Genetic analyses reveal that purely quantitative changes in the relative copy number of chromosomes can be sufficient to disrupt the epigenetic mechanisms that define the cells' differentiated state.
    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.
    1. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    A promoter interaction map for cardiovascular disease genetics

    Lindsey E Montefiori et al.
    Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
    1. Developmental Biology

    Revised roles of ISL1 in a hES cell-based model of human heart chamber specification

    Roberto Quaranta et al.
    Loss and gain-of-function investigation uncovers a regulatory network controlling human heart chamber specification in which the cardiac precursor gene ISL1 accelerates ventricular induction and antagonizes retinoic acid-driven atrial commitment.
    1. Computational and Systems Biology
    2. Developmental Biology

    A stochastic epigenetic switch controls the dynamics of T-cell lineage commitment

    Kenneth KH Ng et al.
    The timing and outcome of mammalian cell lineage decisions can be controlled by slow, stochastic events on individual regulatory gene loci.
    1. Stem Cells and Regenerative Medicine

    Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

    Diego Balboa et al.
    Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.