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    Research 30 of 173

    1. Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome Prenatal Diagnosis · 2004 · 25 citations
    2. The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome Frontiers in Endocrinology · 2023
    3. Alterations of plasma antioxidants and mitochondrial DNA mutation in hair follicles of smokers Environmental and Molecular Mutagenesis · 2002 · 12 citations
    4. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    5. Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature International journal of molecular sciences · 2024
    6. Mitochondrial dysfunction as a cause of ageing Journal of Internal Medicine · 2008 · 384 citations
    7. Madarosis from mitochondriopathy Acta Ophthalmologica Scandinavica · 2005 · 6 citations
    8. The legacy of Bruce Ames and mitochondrial DNA mutagenicity: integrating oxidative stress, aging, and modern perspectives Frontiers in Molecular Biosciences · 2025
    9. Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse PLoS ONE · 2012 · 42 citations
    10. Improved health-span and lifespan in mtDNA mutator mice treated with the mitochondrially targeted antioxidant SkQ1 Aging · 2017 · 75 citations
    11. Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function Cell death and disease · 2018 · 74 citations
    12. Transient mitochondrial DNA double strand breaks in mice cause accelerated aging phenotypes in a ROS-dependent but p53/p21-independent manner Cell Death & Differentiation · 2016 · 42 citations
    13. Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome Medicine · 2020 · 5 citations
    14. Mitochondrial DNA Variation in Human Hair Shafts Influenced by Physical Characteristics: A Massively Parallel Sequencing Analysis Genes · 2026
    15. Resistance of degraded hair shafts to contaminant DNA Forensic Science International · 2005 · 69 citations
    16. Rare and Underappreciated Causes of Polycystic Ovarian Syndrome IntechOpen eBooks · 2022
    17. Mitochondrial DNA Damage, Oxidative Stress, and Atherosclerosis Circulation · 2013 · 12 citations
    18. Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples Forensic Sciences Research · 2024 · 3 citations
    19. A young male with kidney damage from genetic mitochondrial disease: case report and literature review BMC Nephrology · 2026
    20. Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001 · 14 citations
    21. Fidelity of the Human Mitochondrial DNA Polymerase Journal of Biological Chemistry · 2006 · 101 citations
    22. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    23. Epithelial loss of mitochondrial oxidative phosphorylation leads to disturbed enamel and impaired dentin matrix formation in postnatal developed mouse incisor Scientific reports · 2020 · 3 citations
    24. Dual deficiency of melatonin and dihydrotestosterone promotes stromal cell damage and mediates prostatitis via the cGAS-STING pathway in sleep-deprived mice Cell communication and signaling · 2024
    25. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    26. Highlights from the Literature Physiology · 2005
    27. The interplay of oxidative stress and immune dysfunction in Hashimoto’s thyroiditis and polycystic ovary syndrome: a comprehensive review Frontiers in Immunology · 2023 · 1 citations
    28. Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism Journal of Biomedical Science · 2023
    29. Improving human forensics through advances in genetics, genomics and molecular biology Nature Reviews Genetics · 2011 · 383 citations
    30. Pathology of Mouse Models of Accelerated Aging Veterinary pathology · 2016 · 81 citations