4,439 results found
    1. Structural Biology and Molecular Biophysics
    2. Computational and Systems Biology

    Codon-level information improves predictions of inter-residue contacts in proteins by correlated mutation analysis

    Etai Jacob et al.
    Correlated mutation analysis using a combination of amino acid and codon sequence alignments improves predictions of amino acid residue contacts in proteins.
    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.
    1. Cell Biology

    Molecular basis for dyneinopathies reveals insight into dynein regulation and dysfunction

    Matthew G Marzo et al.
    A mutagenesis screen in budding yeast sheds light on dynein regulation and function, and reveals the molecular basis for disease in patients suffering from neuropathies caused by dynein dysfunction.
    1. Computational and Systems Biology
    2. Cancer Biology

    Mitochondrial DNA copy number variation across human cancers

    Ed Reznik et al.
    Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.
    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

    Histone gene replacement reveals a post-transcriptional role for H3K36 in maintaining metazoan transcriptome fidelity

    Michael P Meers et al.
    Post-translational modification of histone H3K36 is not required to suppress cryptic transcription initiation or to include alternative exons in Drosophila; instead it promotes expression of active genes by stimulating polyadenylation.
    1. Neuroscience

    Identification of slit3 as a locus affecting nicotine preference in zebrafish and human smoking behaviour

    Judit García-González et al.
    Zebrafish studies are able to predict loci and biological pathways affecting human behaviour, paving the way to better understanding of the biological underpinnings of psychiatric disease.
    1. Cell Biology

    Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity

    Rachel A Battaglia et al.
    GFAP protein carries a distinct post-translational modification signature that facilitates its pathogenic accumulation and aggregation in astrocytes of patients who succumb to Alexander Disease very early in life.
    1. Cancer Biology
    2. Computational and Systems Biology

    Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

    Malene Juul et al.
    A new statistical approach identifies non-coding regulatory regions of genes as driver candidates with recurrent mutations across cancer samples that associate with gene expression, patient survival or mutational phenotype.

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