4,621 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.
    Insight
    Available as:
    • HTML
    • PDF
    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.
    1. Human Biology and Medicine

    Stem Cells: What silent mutations say about the human airways

    Matthew L Donne, Jason R Rock
    Insight
    Available as:
    • HTML
    • PDF
    1. Cell Biology
    2. Human Biology and Medicine

    Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

    Nuno Rocha et al.
    Specific human mitofusin 2 mutations induce selective upper body obesity with suppressed leptin expression and severe adipose mitochondrial dysfunction.
    1. Human Biology and Medicine
    2. 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.
    1. Structural Biology and Molecular Biophysics
    2. Human Biology and Medicine

    Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2

    Louise Meigh et al.
    Building on previous work (Meigh et al., 2013) we show that A88V, a mutation in connexin26 (Cx26) that causes Keratitis-Ichthyosis-Deafness (KID) syndrome in humans, is linked to a lack of sensitivity to CO2 by Cx26 hemichannels.
    1. Structural Biology and Molecular Biophysics

    Patient-specific mutations impair BESTROPHIN1’s essential role in mediating Ca2+-dependent Cl- currents in human RPE

    Yao Li et al.
    A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca2+-dependent Cl- current in human RPE.
    1. Genetics and Genomics
    2. Cancer Biology

    Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

    Young Seok Ju et al.
    Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
    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. Cancer Biology
    2. Genetics and Genomics

    Mismatch repair-signature mutations activate gene enhancers across human colorectal cancer epigenomes

    Stevephen Hung et al.
    Non-coding mutations in microsatellite-instable (MSI) colorectal tumors are prevalent and activate cancer-specific enhancers, thereby disrupting gene expression control.

Refine your results by:

Type
Research categories