3,495 results found
    1. Genetics and Genomics

    Spontaneous mutations and the origin and maintenance of quantitative genetic variation

    Wen Huang et al.
    Whole genome DNA sequence analysis, genome wide gene expression and complex organismal phenotypes in Drosophila mutation accumulation lines provide a robust estimate of the spontaneous mutation rate and mutational effects.
    1. Genetics and Genomics

    Loss of heterozygosity results in rapid but variable genome homogenization across yeast genetic backgrounds

    Abhishek Dutta et al.
    Loss of heterozygosity (LOH) mediated diversification of the diploid S. cerevisiae hybrid genomes during asexual propagation are vast and exceptionally varied depending on the genetic background.
    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. 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. Biochemistry and Chemical Biology
    2. Cancer Biology

    Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair

    Karl P Hodel et al.
    When mismatch repair is compromised heterozygous loss of Pol ε proofreading is sufficient to drive a subset of the observed clinical characteristics of Pol ε tumors.
    1. Neuroscience

    Loss of presenilin function is associated with a selective gain of APP function

    Carole Deyts et al.
    Amyloid precursor protein expression and accumulation of its intracellular fragment are required for exuberant neurite outgrowth associated with pathological presenilin 1 loss-of-function mutations before the emergence of amyloid burden in mice.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome

    Yoong Wearn Lim et al.
    Global epigenetic perturbations and accumulation of RNA:DNA hybrids are two novel hallmarks of the lupus-like inflammatory disorder Aicardi-Goutières syndrome.
    1. Evolutionary Biology
    2. Physics of Living Systems

    Predicting evolution from the shape of genealogical trees

    Richard A Neher et al.
    A general method for inferring fitness from a sample of nucleotide sequences can predict the progenitor of next year's seasonal influenza.
    1. Computational and Systems Biology
    2. Microbiology and Infectious Disease

    Functional genomics of lipid metabolism in the oleaginous yeast Rhodosporidium toruloides

    Samuel T Coradetti et al.
    Using barcoded mutagenesis and a high-throughput genetic screen results in the identification of 150 genes that affect lipid accumulation in a non-model yeast system.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A broad mutational target explains a fast rate of phenotypic evolution

    Fabrice Besnard et al.
    A broad mutational target is the cause of the high mutational variance and corresponding fast phenotypic evolutionary rate in P3.p cell fate in Caenorhabditis nematodes.

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