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Germ-Line Mutations in Nonsyndromic Pheochromocytoma

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MITOCHONDRIAL DNA MAINTENANCE IN VERTEBRATES

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Somatic mutations of the mitochondrial genome in human colorectal tumours

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Facile Detection of Mitochondrial DNA Mutations in Tumors and Bodily Fluids

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Gastrointestinal Stem Cells and Cancer: Bridging the Molecular Gap

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Uncovering the Profile of Somatic mtDNA Mutations in Chinese Colorectal Cancer Patients

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Stochastic Models for Evolving Cellular Populations of Mitochondria: Disease, Development, and Ageing

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Fenofibrate attenuates cardiac and renal alterations in young salt-loaded spontaneously hypertensive stroke-prone rats through mitochondrial protection

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Roles of Mitochondrial DNA Mutations in Stem Cell Ageing

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Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity–Impairing Genes

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Protein analysis through Western blot of cells excised individually from human brain and muscle tissue

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Stem cells as common ancestors in a colorectal cancer ancestral tree

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Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation

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Stem cell identification— in vivo lineage analysis versus in vitro isolation and clonal expansion

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Evolution analysis of heterogeneous non-small cell lung carcinoma by ultra-deep sequencing of the mitochondrial genome

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The clinical implications and biologic relevance of neurofilament expression in gastroenteropancreatic neuroendocrine neoplasms

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Quantifying mitochondrial DNA copy number using robust regression to interpret real time PCR results

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Clustering of mutant mitochondrial DNA copies suggests stem cells are common in human bronchial epithelium

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The mutational landscape of the adult healthy parous and nulliparous human breast

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Deciphering the Spectrum of Mitochondrial DNA Mutations in Hepatocellular Carcinoma Using High-Throughput Sequencing

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How Does Cellular Senescence Prevent Cancer?

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Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity

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Mitochondrial DNA Mutations in Ageing and Disease: Implications for HIV?

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Mitochondrial DNA Mutations in Individuals Occupationally Exposed to Ionizing Radiation

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Intestinal stem cells and inflammation

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Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry

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Lineage tracing in human tissues

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Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

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Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders

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Mitochondria and ageing with HIV

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Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa

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Mitochondriome and Cholangiocellular Carcinoma

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The road to rack and ruin: selecting deleterious mitochondrial DNA variants

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Cryptic causation of human disease: reading between the (germ) lines

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Is aging the price for memory?

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The genetics and epigenetics of altered proliferative homeostasis in ageing and cancer

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Evidence that a mitochondrial death spiral underlies antagonistic pleiotropy

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Where and When Do Somatic mtDNA Mutations Occur?

Khrapko, K., Ebralidse, K. K., & Kraytsberg, Y. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1297.040 · Cited by 15

Aberrant intestinal stem cell lineage dynamics in Peutz–Jeghers syndrome and familial adenomatous polyposis consistent with protracted clonal evolution in the crypt

Langeveld, D., Jansen, M., de Boer, D. V., van Sprundel, M., Brosens, L. A. A., Morsink, F. H. M., Giardiello, F. M., Offerhaus, G. J. A., & de Leng, W. W. J. (2011) · Gut · doi:10.1136/gutjnl-2011-300622 · Cited by 14

The Complex, Clonal, and Controversial Nature of Barrett’s Esophagus

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NHG-Standaard Diverticulitis

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Hepatocytes undergo punctuated expansion dynamics from a periportal stem cell niche in normal human liver

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Mathematical Models of Mitochondrial Aging and Dynamics

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Age‐associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon

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Mitochondrial DNA in somatic cells: A promising target of routine clinical tests

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Mechanism of age-related accumulation of mtDNA mutations in human blood

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Overtreatment of Sigmoid Diverticulitis: Plea for a Less Aggressive Approach

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Nutrition, Epigenetics and Aging

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Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain

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A Genetic View of the Mitochondrial Role in Ageing: Killing Us Softly

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Distributions of five common point mutants in the human tracheal-bronchial epithelium

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Mitochondria in Biology and Medicine

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Modelling age-related metabolic disorders in the mouse

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15-PGDH regulates hematopoietic and gastrointestinal fitness during aging

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The Role of Mitochondria in Stem Cell Biology

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Mitochondrial cytochrome c oxidase subunit II variations predict adverse prognosis in cytogenetically normal acute myeloid leukaemia

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Modeling of stem cell dynamics in human colonic crypts in silico

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A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle

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Possibility of selection against mtDNA mutations in tumors

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A convection-diffusion-shape model for aberrant colonic crypt morphogenesis

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Intestinal crypt properties fit a model that incorporates replicative ageing and deep and proximate stem cells

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The Biological Science of Human Ageing

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Nutrition, Epigenetics, And Aging

Mathers, J. C., & Ford, D. (2009) · CRC Press eBooks · doi:10.1201/9781420063561.ch8 · Cited by 11

Lack of Mitochondrial DNA Deletions in Lesions of Multiple Sclerosis

Blokhin, A., Vyshkina, T., Komoly, S., & Kálmán, B. (2008) · NeuroMolecular Medicine · doi:10.1007/s12017-008-8025-2 · Cited by 11

A Comparison of Continuum and Cell-based Models of Colorectal Cancer

Walter, A. M. (2009) · Nottingham ePrints (University of Nottingham) · Cited by 11

Charting single-cell lineages with synthetic and natural barcodes

Rodriguez-Fraticelli, A., & Parreno, V. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-026-00943-5 · Cited by 11

Understanding the impact of mitochondrial DNA mutations on aging and carcinogenesis (Review)

Kobayashi, H., & Imanaka, S. (2025) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2025.5559 · Cited by 11

Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243 A > G point mutation

Zierz, C. M., Joshi, P. R., & Zierz, S. (2014) · Neuropathology · doi:10.1111/neup.12173 · Cited by 10

Overview of genes, diet and cancer

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Stem cells in gastrointestinal cancers: a matter of choice in cell fate determination

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Tissue-specific responses to TFAM and mtDNA copy number manipulation in prematurely ageing mice

Kremer, L. S., Gao, G., Rigoni, G., Filograna, R., Mennuni, M., Wibom, R., Végvári, Á., Koolmeister, C., & Larsson, N. (2025) · eLife · doi:10.7554/elife.104461.3 · Cited by 15

Selfish mutations promote age-associated erosion of mtDNA integrity in mammals

Korotkevich, E., Conrad, D. N., Gartner, Z. J., & O’Farrell, P. H. (2025) · Nature Communications · doi:10.1038/s41467-025-60477-y · Cited by 15

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H. R., Deshpande, C., Klopstock, T., McFarland, R., Horváth, R., & Taylor, R. W. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2010.04.003 · Cited by 9

Does lung aging have an impact on chronic obstructive pulmonary disease?

Ito, K. (2007) · Journal of Organ Dysfunction · doi:10.1080/17471060601137407 · Cited by 9

Mitochondrial DNA Mutations and Ageing

Whitehall, J. C., Smith, A. L. M., & Greaves, L. C. (2023) · Sub-cellular biochemistry/Subcellular biochemistry · doi:10.1007/978-3-031-21410-3_4 · Cited by 9

Revealing human intestinal stem cell and crypt dynamics

Baker, A., & Graham, T. A. (2014) · Molecular & Cellular Oncology · doi:10.4161/23723548.2014.970069 · Cited by 9

High frequency of somatic mutations in rat liver mitochondrial DNA

Rotskaya, U. N., Rogozin, I. B., Vasyunina, E. A., Malyarchuk, B. А., Nevinsky, G. A., & Sinitsyna, O. I. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.12.010 · Cited by 9

Do mitochondrial DNA mutations have a role in neurodegenerative disease?

Krishnan, K. J., Reeve, A. K., & Turnbull, D. M. (2007) · Biochemical Society Transactions · doi:10.1042/bst0351232 · Cited by 9

Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction

Marusich, M. F., Murray, J. M., Xie, J., & Capaldi, R. (2009) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2009.05.009 · Cited by 9

The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease

Yarham, J. W., Blakely, E. L., Alston, C. L., Roberts, M., Ealing, J., Pal, P., Turnbull, D. M., McFarland, R., & Taylor, R. W. (2012) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2012.12.003 · Cited by 8

Enrichment and Interrogation of Cancer Stem Cells

Jarrar, A., Chumakova, A. P., Hitomi, M., & Lathia, J. D. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803892-5.00003-6 · Cited by 8

Underlying role of mitochondrial mutagenesis in the pathogenesis of a disease and current approaches for translational research

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Mitochondrial DNA mutations and aging

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Selective Pressure for a Decreased Rate of Asymmetrical Divisions Within Stem Cell Niches May Contribute to Age-Related Alterations in Stem Cell Function

Lynch, M. (2004) · Rejuvenation Research · doi:10.1089/1549168041553008 · Cited by 8

Regulation of Mitochondrial Quality Control of Intestinal Stem Cells in Homeostasis and Diseases

Lei, X., Xu, Z., Huang, Y., Huang, L., Lang, J., Qu, M., & Liu, D. (2024) · Antioxidants and Redox Signaling · doi:10.1089/ars.2023.0489 · Cited by 7

Detection of Mitochondrial DNA Variation in Human Cells

Krishnan, K. J., Blackwood, J. K., Reeve, A. K., Turnbull, D. M., & Taylor, R. W. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-367-1_13 · Cited by 7

Defective COX1 expression in aging mice liver

Witte, S., Boshnakovska, A., Özdemir, M., Chowdhury, A., Rehling, P., & Aich, A. (2023) · Biology Open · doi:10.1242/bio.059844 · Cited by 7

Stem Cells in the Gastrointestinal Tract

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Somatic selection of poorly differentiating variant stem cell clones could be a key to human ageing

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

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Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit

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Automated quantitative high-throughput multiplex immunofluorescence pipeline to evaluate OXPHOS defects in formalin-fixed human prostate tissue

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Review article: is there a common principle in the development of gastrointestinal cancers? Stem cells in the origin of cancer

WRIGHT, N. A. (2006) · Alimentary Pharmacology & Therapeutics Symposium Series · doi:10.1111/j.1746-6342.2006.00023.x · Cited by 7

Neuromuscular disease presentation with three genetic defects involving two genomes

Aldosary, M. S., Whittaker, R. G., Haughton, J., McFarland, R., Goodship, J., Turnbull, D. M., & Taylor, R. W. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.10.001 · Cited by 7

Mitochondrial Medicine

Wallace, D. C., Lott, M. T., & Procaccio, V. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00013-6 · Cited by 8

Whole-body interdiction of lengthening of telomeres: a proposal for cancer prevention

J., D. (2005) · Frontiers in bioscience · doi:10.2741/1707 · Cited by 7

Stem Cells and Inflammation in the Intestine

Humphries, A., Graham, T. A., & McDonald, S. A. C. (2011) · Recent results in cancer research/Recent Results in Cancer Research · doi:10.1007/978-3-642-03503-6_3 · Cited by 7

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0

Zamzami, M. A., Price, G. R., Taylor, R. W., Blakely, E. L., Oancea, I., Bowling, F. G., & Duley, J. A. (2011) · BMC Research Notes · doi:10.1186/1756-0500-4-426 · Cited by 7

Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues

Bury, A. G., Pyle, A., Vincent, A. E., Actis, P., & Hudson, G. (2024) · Scientific Reports · doi:10.1038/s41598-024-64455-0 · Cited by 6

Heredity and segregation of mtDNA

Burr, S. P., & Chinnery, P. F. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819656-4.00004-8 · Cited by 6

Zebrafish as Aging Models

Kishi, S. (2006) · Elsevier eBooks · doi:10.1016/b978-012369391-4/50029-1 · Cited by 6

Microbial-Driven Immunological Memory and Its Potential Role in Microbiome Editing for the Prevention of Colorectal Cancer

Campillo-Gimenez, L., Ríos-Covián, D., Rivera–Nieves, J., Kiyono, H., Chu, H., & Ernst, P. B. (2021) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2021.752304 · Cited by 6

Tales from the crypt

Schon, E. A. (2003) · Journal of Clinical Investigation · doi:10.1172/jci20249 · Cited by 6

Increased mitochondrial mutation heteroplasmy induces aging phenotypes in pluripotent stem cells and their differentiated progeny

Vandiver, A. R., Torres, A., Sanden, A., Nguyen, T. L., Gasilla, J., Doan, M. T., Martirosian, V., Hoang, A. N., Wanagat, J., & Teitell, M. A. (2024) · Aging Cell · doi:10.1111/acel.14402 · Cited by 6

Mitochondrial DNA mutations and aging in human colonic crypts and stem cells

Taylor, R. W., Barron, M., Borthwick, G. M., Gospel, A., Chinnery, P. F., Samuels, D. C., Taylor, G. A., Plusa, S., Needham, S. G., Greaves, L. C., et al. (2003) · Newcastle University ePrints (Newcastle Univesity) · doi:10.25405/ncl.34651527 · Cited by 1

Age‐associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts

Nooteboom, M., Johnson, R., Taylor, R. W., Wright, N. A., Lightowlers, R. N., Kirkwood, T. B. L., Mathers, J. C., Turnbull, D. M., & Greaves, L. C. (2009) · Aging Cell · doi:10.1111/j.1474-9726.2009.00531.x · Cited by 58

Summary

Take, S., Nooteboom, M., Johnson, R., Taylor, R. W., Wright, N. A., Lightowlers, R. N., Kirkwood, T. B. L., Mathers, J. C., Turnbull, D. M., & Greaves, L. C. (2009)

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission

Greaves, L. C., Preston, S. L., Tadrous, P. J., Taylor, R. W., Barron, M. J., Oukrif, D., Leedham, S. J., Deheragoda, M. G., Sasieni, P. D., Novelli, M. R., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505903103 · Cited by 293

Tales from the crypt

Schon, E. A. (2003) · Journal of Clinical Investigation · doi:10.1172/jci20249 · Cited by 6