1,623 results found
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Medicine
    2. Neuroscience

    Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Shai Kellner et al.
    Two novel mutations in the GRIN2B gene reduce glutamate affinity by >1000-fold, reduce the receptors proton-sensitivity, and exert a dominant-negative effect over receptors in neurons.
    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. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A de novo evolved gene in the house mouse regulates female pregnancy cycles

    Chen Xie et al.
    A female specifically expressed new protein-coding gene that has emerged out of non-coding sequences without detectable signatures of adaptive evolution affects female pregnancy cycles.
    1. Evolutionary Biology

    The need for high-quality oocyte mitochondria at extreme ploidy dictates mammalian germline development

    Marco Colnaghi et al.
    Selective transfer of mitochondria in the Balbiani body ensures high-quality oocyte mitochondria at extreme ploidy, explaining many enigmatic features of female germline architecture including germ cell loss.
    1. Evolutionary Biology

    Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate

    Chungang Feng et al.
    The Atlantic herring has the lowest mutation rate yet estimated in a vertebrate species and this partially explains its moderate nucleotide diversity given the large population size.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    Post-translational regulation of retinal IMPDH1 in vivo to adjust GTP synthesis to illumination conditions

    Anna Plana-Bonamaisó et al.
    The nucleotide sensing ability of IMPDH1 at the Bateman domain is regulated by light-dependent phosphorylation in the retina, to adjust GTP synthesis to illumination conditions.
    1. Neuroscience

    De novo learning versus adaptation of continuous control in a manual tracking task

    Christopher S Yang et al.
    Humans can rapidly build a new controller when learning continuous movement tasks and can flexibly integrate this process with adaptation of an existing controller.

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