Works matching Mitochondrial DNA mutations
Results: 2264
Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes.
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- Diabetologia, 2001, v. 44, n. 12, p. 2187, doi. 10.1007/s001250100028
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- Article
Mitochondrial DNA mutations accumulated in HIV-1-infected children who have an excellent virological response when exposed to long-term antiretroviral therapy.
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- 2018
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- Publication type:
- journal article
Absence of correlation between serum CRP levels and mitochondrial D-loop DNA mutations in gastro-oesophageal adenocarcinoma.
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- Journal of Cancer Research & Therapeutics, 2014, v. 10, n. 1, p. 176, doi. 10.4103/0973-1482.131458
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- Article
Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
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- Clinical Genetics, 2020, v. 97, n. 5, p. 731, doi. 10.1111/cge.13701
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- Article
Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.
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- Clinical Genetics, 2005, v. 67, n. 3, p. 252, doi. 10.1111/j.1399-0004.2004.00394.x
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- Article
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0238-2
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- Article
Roles of Mitochondrial DNA Mutations in Stem Cell Ageing.
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- Genes, 2018, v. 9, n. 4, p. 182, doi. 10.3390/genes9040182
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- Article
Mitochondrial DNA mutations in HIV-exposed uninfected infants following the cessation of triple antiretroviral drugs.
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- Journal of Antimicrobial Chemotherapy (JAC), 2024, v. 79, n. 2, p. 307, doi. 10.1093/jac/dkad378
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- Article
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.
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- Current Eye Research, 1998, v. 17, n. 4, p. 403, doi. 10.1080/02713689808951221
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- Article
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
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- 2006
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- Publication type:
- journal article
PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.
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- Human Reproduction Update, 2012, v. 18, n. 4, p. 341, doi. 10.1093/humupd/dms008
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- Article
Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.
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- Journal of Pathology, 2018, v. 246, n. 4, p. 427, doi. 10.1002/path.5156
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- Article
Digital PCR Quantitation of Muscle Mitochondrial DNA: Age, Fiber Type, and Mutation-Induced Changes.
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- 2017
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- Publication type:
- journal article
How the most common mitochondrial DNA mutation (m.3243A>G) vanishes from leukocytes: a mathematical model.
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- Human Molecular Genetics, 2018, v. 27, n. 9, p. 1565, doi. 10.1093/hmg/ddy063
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- Article
Two families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.
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- Molecular Medicine Reports, 2015, v. 12, n. 2, p. 3067, doi. 10.3892/mmr.2015.3714
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- Article
Deciphering the Spectrum of Mitochondrial DNA Mutations in Hepatocellular Carcinoma Using High-Throughput Sequencing.
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- Gene Expression (1052-2166), 2018, v. 18, n. 2, p. 125, doi. 10.3727/105221618X15185539348147
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- Article
Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 12, p. 3251, doi. 10.1007/s10815-021-02354-3
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- Article
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
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- 2017
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- journal article
Cardiovascular autonomic regulation in patients with 3243A>G mitochondrial DNA mutation.
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- Annals of Medicine, 2004, v. 36, n. 3, p. 225, doi. 10.1080/07853890410028456
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- Article
Mitochondrial DNA Mutation and Depletion Increase the Susceptibility of Human Cells to Apoptosis.
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- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 133, doi. 10.1196/annals.1293.014
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- Article
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors.
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- Journal of Pathology: Clinical Research, 2022, v. 8, n. 2, p. 155, doi. 10.1002/cjp2.247
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- Article
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
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- Cells (2073-4409), 2021, v. 10, n. 11, p. 2920, doi. 10.3390/cells10112920
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- Article
A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy.
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- 2014
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- Publication type:
- Case Study
Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis.
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- Cell Research, 2009, v. 19, n. 7, p. 802, doi. 10.1038/cr.2009.69
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- Article
Mitochondrial DNA Mutations in Grade II and III Glioma Cell Lines Are Associated with Significant Mitochondrial Dysfunction and Higher Oxidative Stress.
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- Frontiers in Physiology, 2017, v. 8, p. 1, doi. 10.3389/fphys.2017.00231
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- Article
A Comprehensive Review of the Contribution of Mitochondrial DNA Mutations and Dysfunction in Polycystic Ovary Syndrome, Supported by Secondary Database Analysis.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 1172, doi. 10.3390/ijms26031172
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- Article
Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.
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- Biogerontology, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10522-024-10175-x
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- Article
Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.
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- Biogerontology, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10522-024-10175-x
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- Article
Pathogenic Heteroplasmic Somatic Mitochondrial DNA Mutation Confers Platinum-Resistance and Recurrence of High-Grade Serous Ovarian Cancer.
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- Cancer Management & Research, 2020, v. 12, p. 11085, doi. 10.2147/CMAR.S277724
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- Article
Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.
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- Stem Cells, 2016, v. 34, n. 4, p. 801, doi. 10.1002/stem.2292
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- Article
Mitochondrial DNA mutations in etiopathogenesis of male infertility.
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- Indian Journal of Urology, 2008, v. 24, n. 2, p. 150
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- Article
Somatic Mitochondrial DNA Mutations in Oral Cancer of Betel Quid Chewers.
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- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 310, doi. 10.1196/annals.1293.030
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- Article
Mitochondrial DNA Deletion Mutations and Sarcopenia.
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- Annals of the New York Academy of Sciences, 2002, v. 959, n. 1, p. 412, doi. 10.1111/j.1749-6632.2002.tb02111.x
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- Article
Detection of mitochondrial DNA mutations by high-throughput sequencing in the blood of breast cancer patients.
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- International Journal of Molecular Medicine, 2014, v. 33, n. 1, p. 77, doi. 10.3892/ijmm.2013.1559
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- Article
Identifying potential pitfalls in interpreting mitochondrial DNA mutations of male infertility cases.
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- Indian Journal of Medical Research, 2011, v. 134, n. 4, p. 447
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- Article
Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.
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- Neuro-Ophthalmology, 2025, v. 49, n. 3, p. 206, doi. 10.1080/01658107.2024.2405697
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- Article
Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer.
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- Prostate Cancer (20903111), 2020, p. 1, doi. 10.1155/2020/7673684
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- Article
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.
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- Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003
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- Article
Mitochondrial DNA Mutations and Diabetes: Another Step toward Individualized Medicine.
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- Annals of Internal Medicine, 2001, v. 134, n. 9, p. 777, doi. 10.7326/0003-4819-134-9_Part_1-200105010-00014
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- Article
Acetylresveratrol as a Potential Substitute for Resveratrol Dragged the Toxic Aldehyde to Inhibit the Mutation of Mitochondrial DNA.
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- Applied Biochemistry & Biotechnology, 2020, v. 191, n. 3, p. 1340, doi. 10.1007/s12010-020-03279-w
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- Article
Generation, Function, and Prognostic Utility of Somatic Mitochondrial DNA Mutations in Cancer.
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- Environmental & Molecular Mutagenesis, 2010, v. 51, n. 5, p. 427, doi. 10.1002/em.20582
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- Article
Correcting a pathogenic mitochondrial DNA mutation by base editing in mice.
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- Science Translational Medicine, 2025, v. 17, n. 783, p. 1, doi. 10.1126/scitranslmed.adr0792
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- Publication type:
- Article
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNA<sup>Lys</sup> gene.
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- Muscle & Nerve, 1994, v. 17, n. 1, p. 52, doi. 10.1002/mus.880170107
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- Publication type:
- Article
Mitochondrial DNA mutations in head and neck cancer are infrequent and lack prognostic utility.
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- 2011
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- Publication type:
- journal article
Re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
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- 2019
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- Publication type:
- Letter
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
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- 2019
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- Publication type:
- journal article
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase γ associated with progressive external ophthalmoplegia.
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- Human Molecular Genetics, 2006, v. 15, n. 2, p. 363, doi. 10.1093/hmg/ddi454
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- Article
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
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- Annals of Neurology, 2003, v. 54, n. 4, p. 473
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- Article
Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patients T. Nomiyama et al.: Diabetes accumulates somatic mtDNA mutation.
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- Diabetologia, 2002, v. 45, n. 11, p. 1577, doi. 10.1007/s00125-002-0893-7
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- Publication type:
- Article
A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance.
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- Acta Diabetologica, 2004, v. 41, n. 4, p. 179, doi. 10.1007/s00592-004-0163-x
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- Publication type:
- Article