2,764 results found
    1. Genetics and Genomics
    2. Neuroscience

    Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans

    Yung-Chi Huang et al.
    Caenorhabditis elegans studies indicate that gain-of-function mutations in the presynaptic voltage-gated calcium, associated with familial hemiplegic migraine in humans, result in excitatory-inhibitory imbalance in the nervous system.
    1. Epidemiology and Global Health

    The effects of a deleterious mutation load on patterns of influenza A/H3N2's antigenic evolution in humans

    Katia Koelle, David A Rasmussen
    Deleterious mutations slow down flu's antigenic evolution, make it more punctuated in nature, and reduce the virus's genetic diversity.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Spermatogenesis: A hotspot for new genes

    Anne-Marie Dion-Côté
    Single-cell RNA-sequencing in fruit flies gives an unprecedented picture of how new genes are expressed during the formation of sperm.
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    1. Evolutionary Biology
    2. Genetics and Genomics

    Testis single-cell RNA-seq reveals the dynamics of de novo gene transcription and germline mutational bias in Drosophila

    Evan Witt et al.
    Single-cell RNA-sequencing and germline substitutions provide novel insights into how testis is a hotspot for evolutionary innovation of genes, expression, and mutation at the single-cell level.
    1. Developmental Biology

    Developmental Biology: Shaping the sound of voice

    Ralph Marcucio
    The proper development of the vocal cords requires embryos to contain a certain number of progenitor cells, and mutations that lead to an overflow of cells can cause malformations of the voice box.
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    1. Immunology and Inflammation
    2. Physics of Living Systems

    Role of framework mutations and antibody flexibility in the evolution of broadly neutralizing antibodies

    Victor Ovchinnikov et al.
    Computer simulations of the evolution of broadly neutralizing antibodies against HIV suggest that non-traditional pathways involving framework mutations which lead initially to increased antibody flexibility do occur, but can be avoided by appropriate vaccine design.
    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. Chromosomes and Gene Expression

    Oncometabolite D-2-Hydroxyglutarate enhances gene silencing through inhibition of specific H3K36 histone demethylases

    Ryan Janke et al.
    Mutations in budding yeast modeled after cancer-associated isocitrate dehydrogenase mutations lead to stabilization of heterochromatin and enhanced gene silencing through inhibition of specific histone demethylases by the oncometabolite D-2-hydroxyglutarate.
    1. Immunology and Inflammation
    2. Structural Biology and Molecular Biophysics

    Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants

    Charlotte Lässig et al.
    RIG-I Singleton-Merten syndrome mutations either mimic or freeze the protein in an ATP-bound state and lead to autoimmune signalling through a gain-of-function recognition of self-RNA.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation

    Franziska Bleichert et al.
    Electron microscopy uncovers the structure of the origin recognition complex (ORC) in metazoans, and reveals how mutations in the ORC6 subunit lead to Meier-Gorlin syndrome in humans.

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