3,917 results found
    1. Evolutionary Biology

    Population Genetics: Global clues to the nature of genomic mutations in humans

    Aylwyn Scally
    An analysis of worldwide human genetic variation reveals the footprints of ancient changes in genomic mutation processes.
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    1. Chromosomes and Gene Expression

    Histone H3G34R mutation causes replication stress, homologous recombination defects and genomic instability in S. pombe

    Rajesh K Yadav et al.
    Mutation of Glycine 34 to Arginine within the N-terminal tail of histone H3 alters post-translational modifications on Lysine 36 and is associated with a delay in replication restart, defective homologous recombination and an increase in genomic instability.
    1. Cell Biology
    2. Human Biology and Medicine

    SPOP mutation leads to genomic instability in prostate cancer

    Gunther Boysen et al.
    SPOP mutations underlie a novel, genomically unstable subclass of prostate cancer by altering DNA repair.
    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. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
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    1. Developmental Biology

    Cell Competition: Counting the Minutes

    Stephano Mello, Dirk Bohmann
    A newly discovered mechanism that causes the 'Minute' phenotype in fruit flies can explain how organisms are able to eliminate the mutant cells that arise occasionally during development.
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    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. Evolutionary Biology

    Rapid evolution of the human mutation spectrum

    Kelley Harris, Jonathan K Pritchard
    Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.

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