1,976 results found
    1. Genetics and Genomics
    2. Cancer Biology

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

    Young Seok Ju, Ludmil B Alexandrov ... Peter J Campbell
    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. Cell Biology

    Stable transplantation of human mitochondrial DNA by high-throughput, pressurized isolated mitochondrial delivery

    Alexander J Sercel, Alexander N Patananan ... Michael A Teitell
    Applied pressure enables efficient isolated mitochondrial transfer and stable mitochondrial DNA (mtDNA) transplantation into a range of mtDNA-depleted cell types to restore respiration.
    1. Genetics and Genomics
    2. Medicine

    GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

    Michael Chong, Pedrum Mohammadi-Shemirani ... Guillaume Paré
    An ethnically robust pipeline for inferring mitochondrial DNA copy number from genotyping arrays was developed and applied to the UKBiobank, elucidating several common and rare loci in genes involved in the synthesis, maintenance, and organization of mitochondrial DNA.
    1. Cancer Biology
    2. Genetics and Genomics

    Single-cell lineage tracing by endogenous mutations enriched in transposase accessible mitochondrial DNA

    Jin Xu, Kevin Nuno ... Howard Y Chang
    Epigenome and Mitochondrial Barcode of Lineage from Endogenous Mutations (EMBLEM) enable tracking cell lineage in combination with chromatin profile in ATAC-seq data.
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    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

    Richard F Oppong, Antonio Terracciano ... Jun Ding
    Two genome sequencing studies show a consistent association between blood mitochondrial DNA copy number (mtDNAcn) and personality traits and provide support for the hypothesis that mtDNAcn may be a biomarker that connects certain personality characteristics with mortality.
    1. Cell Biology
    2. Genetics and Genomics

    A mitochondrial DNA hypomorph of cytochrome oxidase specifically impairs male fertility in Drosophila melanogaster

    Maulik R Patel, Ganesh K Miriyala ... Harmit S Malik
    A 'male-harming' mtDNA mutation has been identified in Drosophila and impairs male fertility without impairing other male or female functions.
    1. Chromosomes and Gene Expression
    2. Immunology and Inflammation

    Regulation of nuclear transcription by mitochondrial RNA in endothelial cells

    Kiran Sriram, Zhijie Qi ... Zhen Bouman Chen
    Mitochondrial RNAs attach to chromatin and regulate nuclear transcription in endothelial stress response.
    1. Computational and Systems Biology
    2. Cancer Biology

    Mitochondrial DNA copy number variation across human cancers

    Ed Reznik, Martin L Miller ... Chris Sander
    Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.
    1. Epidemiology and Global Health

    Unbiased proteomics, histochemistry, and mitochondrial DNA copy number reveal better mitochondrial health in muscle of high-functioning octogenarians

    Ceereena Ubaida-Mohien, Sally Spendiff ... Russell T Hepple
    Skeletal muscle from world-class octogenarian athletes, representing a population with very high physical function in advanced age, exhibits greater mass and strength that is associated with overrepresentation of proteins involved in mitochondrial biology and more oxidatively competent muscle fibers.
    1. Developmental Biology

    NEIL1 and NEIL2 DNA glycosylases protect neural crest development against mitochondrial oxidative stress

    Dandan Han, Lars Schomacher ... Christof Niehrs
    NEIL DNA glycosylases are required to counteract oxidative base damages within the mitochondrial genome to safeguard neural crest cell differentiation.

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