578 results found
    1. Cell Biology

    Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors

    Kenta Yamamoto et al.
    Orphan ATM kinase-domain missense mutations are unexpectedly common and form a potent oncogenic event and a biomarker for Topo-isomerase I inhibitor based therapy.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

    Anna I Vickrey et al.
    Different kinds of molecular changes at one genetic locus control different feather pigmentation patterns, and the darkest patterns resulted from hybridization with another species.
    1. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
    1. Biochemistry and Chemical Biology
    2. Immunology and Inflammation

    Rasgrp1 mutation increases naïve T-cell CD44 expression and drives mTOR-dependent accumulation of Helios+ T cells and autoantibodies

    Stephen R Daley et al.
    A single point mutation in a Ras activator leads to aberrant constitutive mTOR signaling in peripheral T cells that consequently accumulate as abnormal T helper cells and stimulate the production of autoantibodies by B cells.
    1. Cancer Biology
    2. Chromosomes and Gene Expression

    Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance

    Rachel W Anantha et al.
    Systematic analyses of natural variants and artificial mutants establish functional landscapes of BRCA1 for homology-directed repair (HDR) and therapy resistance and identify the BRCA1-PALB2 interaction as a key control point for HDR pathway choice.
    1. Cell Biology
    2. Structural Biology and Molecular Biophysics

    Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis

    Michael Taschner et al.
    CRISPR/Cas knockout of intraflagellar transport protein 80 shows that this subunit is absolutely required for ciliogenesis, and biophysical studies reveal that this protein may dimerize the intraflagellar transport complex.
    1. Biochemistry and Chemical Biology

    Conserved RNA-binding specificity of polycomb repressive complex 2 is achieved by dispersed amino acid patches in EZH2

    Yicheng Long et al.
    Biochemical and mutagenesis analysis reveal the long-anticipated RNA-binding elements of Polycomb Repressive Complex 2 (PRC2), an important chromatin modifier, allowing construction of separation-of-function mutants of PRC2 defective in RNA binding but retaining histone-modifying activity.
    1. Structural Biology and Molecular Biophysics
    2. Chromosomes and Gene Expression

    The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome

    Kathleen L McCann et al.
    A single missense mutation in an RNA recognition motif within a nucleolar protein disrupts ribosome assembly and contributes to human pathology.
    1. Neuroscience

    Disordered breathing in a mouse model of Dravet syndrome

    Fu-Shan Kuo et al.
    Expression of a Dravet syndrome-associated mutation in inhibitory neurons disrupts activity of brainstem respiratory neurons and diminishes respiratory behavior in conjunction with seizures and premature death.
    1. Neuroscience

    A Cryptochrome 2 mutation yields advanced sleep phase in humans

    Arisa Hirano et al.
    A missense mutation in the human Cryptochrome 2 (CRY2) gene leads to the condition of familial advanced sleep phase.

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