631 results found
    1. Chromosomes and Gene Expression

    Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome

    Srivarsha Rajshekar et al.
    Derepression of transcripts from hypomethylated pericentromeric repeats triggers an innate immune response in an animal model of Immunodeficency, Centromere and Facial anomalies (ICF) syndrome.
    1. 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

    Dosage compensation can buffer copy-number variation in wild yeast

    James Hose et al.
    Dosage-compensated gene expression facilitates chromosomal aneuploidy, which presents a rapid route to phenotypic evolution in natural yeast isolates.
    1. Computational and Systems Biology
    2. Medicine

    Diagnostically relevant facial gestalt information from ordinary photos

    Quentin Ferry et al.
    An automatic computer vision analysis approach can assist in the diagnosis of rare genetic disorders by using ordinary photographs of patients.
    1. Cell Biology
    2. Developmental Biology

    LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

    Laura Bozal-Basterra et al.
    LUZP1 is required for proper cilia and cytoskeleton formation.
    1. Medicine

    Loss of the melanocortin-4 receptor in mice causes dilated cardiomyopathy

    Michael J Litt et al.
    The melanocortin-4 receptor knockout mouse exhibits a cardiomyopathy syndrome, which raises concerns about cardiovascular function in patients with the similar loss of function mutations, and perhaps even in the 1 in 1500 patients with heterozygous loss of the gene.
    1. Neuroscience

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Cemre Celen et al.
    Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.
    1. Biochemistry and Chemical Biology
    2. Developmental Biology

    O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals

    Shogo Sawaguchi et al.
    The transfer of O-GlcNAc by EOGT to specific EGF repeats of NOTCH1 promotes DLL4 binding, Notch signaling, and retinal vascular development.
    1. Neuroscience

    Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

    Laura Dean Heckman et al.
    Transgenic mice with Rett-causing mutations in MeCP2 reveal that a basic cluster in the C-terminus of the protein binds DNA and that both the methyl-CpG binding domain and the transcriptional repression domain are necessary to elicit toxicity in MECP2 duplication syndrome.
    1. Genetics and Genomics
    2. Immunology and Inflammation

    PACT-mediated PKR activation acts as a hyperosmotic stress intensity sensor weakening osmoadaptation and enhancing inflammation

    Kenneth T Farabaugh et al.
    Changes in the interactome of the Rel family of transcription factors control adaptation to the environmental stress of hyperosmolarity and determine cell fate.

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