Works matching Mitochondrial DNA mutations

Results: 2170

Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes.

Published in:

Diabetologia, 2001, v. 44, n. 12, p. 2187, doi. 10.1007/s001250100028

By:

Lee, W. J.;
Lee, H. W.;
Palmer, J. P.;
Park, K. S.;
Lee, H. K.;
Park, J. Y.;
Hong, S. K.;
Lee, K.-U.

Publication type:

Article

Mitochondrial DNA mutations accumulated in HIV-1-infected children who have an excellent virological response when exposed to long-term antiretroviral therapy.

Published in:

2018

By:

Ouyang, Yabo;
Wei, Feili;
Qiao, Luxin;
Liu, Kai;
Dong, Yaowu;
Guo, Xianghua;
Wang, Shanshan;
Pang, Lijun;
Lin, Minghua;
Zhang, Fujie;
Lin, Dongdong;
Chen, Dexi

Publication type:

journal article

Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0238-2

By:

Mei-Cen Zhou;
Rui Min;
Jian-Jun Ji;
Shi Zhang;
An-Li Tong;
Jian-ping Xu;
Zeng-Yi Li;
Hua-Bing Zhang;
Yu-Xiu Li

Publication type:

Article

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 731, doi. 10.1111/cge.13701

By:

López‐Gallardo, Ester;
Cammarata‐Scalisi, Francisco;
Emperador, Sonia;
Hernández‐Ainsa, Carmen;
Habbane, Mouna;
Vela‐Sebastián, Ana;
Bayona‐Bafaluy, María Pilar;
Montoya, Julio;
Ruiz‐Pesini, Eduardo

Publication type:

Article

Absence of correlation between serum CRP levels and mitochondrial D-loop DNA mutations in gastro-oesophageal adenocarcinoma.

Published in:

Journal of Cancer Research & Therapeutics, 2014, v. 10, n. 1, p. 176, doi. 10.4103/0973-1482.131458

By:

Benjamin Tan, H. L.;
Skipworth, Richard J. E.;
Wheelhouse, Nicholas M.;
Fearon, Kenneth C. H.;
Ross, James A.

Publication type:

Article

Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.

Published in:

Clinical Genetics, 2005, v. 67, n. 3, p. 252, doi. 10.1111/j.1399-0004.2004.00394.x

By:

Wong, L.-J.C.;
Lin, Y.-H.;
Suwannarat, P.;
Hsu, C.-H.;
Kwon, H.-Y.;
Mackowiak, S.

Publication type:

Article

Mitochondrial DNA mutations in HIV-exposed uninfected infants following the cessation of triple antiretroviral drugs.

Published in:

Journal of Antimicrobial Chemotherapy (JAC), 2024, v. 79, n. 2, p. 307, doi. 10.1093/jac/dkad378

By:

Lian, Yuting;
Wang, Ailing;
Wei, Lai;
Yao, Jun;
Bulloch, Gabriella;
Wu, Zunyou;
Zhao, Yan

Publication type:

Article

A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy.

Published in:

2014

By:

Shiraishi, Wataru;
Hayashi, Shintaro;
Kamada, Takashi;
Isobe, Noriko;
Yamasaki, Ryo;
Murai, Hiroyuki;
Ohyagi, Yasumasa;
Kira, Jun-ichi

Publication type:

Case Study

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy.

Published in:

Current Eye Research, 1998, v. 17, n. 4, p. 403, doi. 10.1080/02713689808951221

By:

Mashima, Yukihiko;
Yamada, Keiko;
Wakakura, Masato;
Kigasawa, Kazuteru;
Kudoh, Jun;
Shimizu, Nobuyoshi;
Oguchi, Yoshihisa

Publication type:

Article

How the most common mitochondrial DNA mutation (m.3243A>G) vanishes from leukocytes: a mathematical model.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 9, p. 1565, doi. 10.1093/hmg/ddy063

By:

Veitia, Reiner A.

Publication type:

Article

Implications of mitochondrial DNA mutations and mitochondrial dysfunction in tumorigenesis.

Published in:

Cell Research, 2009, v. 19, n. 7, p. 802, doi. 10.1038/cr.2009.69

By:

Jianxin Lu;
Sharma, Lokendra Kumar;
Yidong Bai

Publication type:

Article

Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 2920, doi. 10.3390/cells10112920

By:

De Luise, Monica;
Iommarini, Luisa;
Marchio, Lorena;
Tedesco, Greta;
Coadă, Camelia Alexandra;
Repaci, Andrea;
Turchetti, Daniela;
Tardio, Maria Lucia;
Salfi, Nunzio;
Pagotto, Uberto;
Kurelac, Ivana;
Porcelli, Anna Maria;
Gasparre, Giuseppe

Publication type:

Article

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

Published in:

Journal of Pathology, 2018, v. 246, n. 4, p. 427, doi. 10.1002/path.5156

By:

Su, Tianhong;
Grady, John P;
Afshar, Sorena;
McDonald, Stuart AC;
Taylor, Robert W;
Turnbull, Doug M;
Greaves, Laura C

Publication type:

Article

Digital PCR Quantitation of Muscle Mitochondrial DNA: Age, Fiber Type, and Mutation-Induced Changes.

Published in:

2017

By:

Herbst, Allen;
Widjaja, Kevin;
Nguy, Beatrice;
Lushaj, Entela B.;
Moore, Timothy M.;
Hevener, Andrea L.;
McKenzie, Debbie;
Aiken, Judd M.;
Wanagat, Jonathan

Publication type:

journal article

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 12, p. 3251, doi. 10.1007/s10815-021-02354-3

By:

Ji, Dongmei;
Li, Xinyuan;
Pan, Jianxin;
Zong, Kai;
Chen, Dawei;
Marley, Jordan Lee;
Zou, Weiwei;
Deng, Xiaohong;
Cao, Yu;
Zhang, Zhiguo;
Zhou, Ping;
Sha, Hongying;
Cao, Yunxia

Publication type:

Article

Cardiovascular autonomic regulation in patients with 3243A>G mitochondrial DNA mutation.

Published in:

Annals of Medicine, 2004, v. 36, n. 3, p. 225, doi. 10.1080/07853890410028456

By:

Majamaa-Voltti, Kirsi;
Majamaa, Kari;
Peuhkurinen, Keijo;
Mäkikallio, Timo H.;
Huikuri, Heikki V.

Publication type:

Article

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

Published in:

Gene Expression (1052-2166), 2018, v. 18, n. 2, p. 125, doi. 10.3727/105221618X15185539348147

By:

Chang Yu;
Xuefeng Wang;
Lifeng Huang;
Ying Tong;
Lili Chen;
Hailong Wu;
Qiang Xia;
Xiaoni Kong

Publication type:

Article

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Published in:

Human Reproduction Update, 2012, v. 18, n. 4, p. 341, doi. 10.1093/humupd/dms008

By:

Hellebrekers, D.M.E.I.;
Wolfe, R.;
Hendrickx, A.T.M.;
de Coo, I.F.M.;
de Die, C.E.;
Geraedts, J.P.M.;
Chinnery, P.F.;
Smeets, H.J.M.

Publication type:

Article

Roles of Mitochondrial DNA Mutations in Stem Cell Ageing.

Published in:

Genes, 2018, v. 9, n. 4, p. 182, doi. 10.3390/genes9040182

By:

Su, Tianhong;
Turnbull, Doug M.;
Greaves, Laura C.

Publication type:

Article

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

Published in:

2006

By:

Meierhofer, D.;
Mayr, J. A.;
Fink, K.;
Schmeller, N.;
Kofler, B.;
Sperl, W.

Publication type:

journal article

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Published in:

2017

By:

Sallevelt, Suzanne C. E. H.;
Dreesen, Joseph C. F. M.;
Drüsedau, Marion;
Hellebrekers, Debby M. E. I.;
Paulussen, Aimee D. C.;
Coonen, Edith;
van Golde, Ronald J. T.;
Geraedts, Joep P. M.;
Gianaroli, Luca;
Magli, Maria C.;
Zeviani, Massimo;
Smeets, Hubert J. M.;
de Die-Smulders, Christine E. M.

Publication type:

journal 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.

Published in:

Journal of Pathology: Clinical Research, 2022, v. 8, n. 2, p. 155, doi. 10.1002/cjp2.247

By:

Tsybrovskyy, Oleksiy;
De Luise, Monica;
de Biase, Dario;
Caporali, Leonardo;
Fiorini, Claudio;
Gasparre, Giuseppe;
Carelli, Valerio;
Hackl, Dominik;
Imamovic, Larisa;
Haim, Silke;
Sobrinho‐Simões, Manuel;
Tallini, Giovanni

Publication type:

Article

Mitochondrial DNA Mutation and Depletion Increase the Susceptibility of Human Cells to Apoptosis.

Published in:

Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 133, doi. 10.1196/annals.1293.014

By:

LIU, CHUN‐YI;
LEE, CHENG‐FENG;
HONG, CHIUNG‐HUI;
WEI, YAU‐HUEI

Publication type:

Article

Two families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.

Published in:

Molecular Medicine Reports, 2015, v. 12, n. 2, p. 3067, doi. 10.3892/mmr.2015.3714

By:

CHEN QIAO;
TANWEI WEI;
BO HU;
CHUNYAN PENG;
XUEPING QIU;
LI WEI;
MING YAN

Publication type:

Article

Mitochondrial DNA mutations in etiopathogenesis of male infertility.

Published in:

Indian Journal of Urology, 2008, v. 24, n. 2, p. 150

By:

Shamsi, Monis Bilal;
Kumar, Rakesh;
Bhatt, Audesh;
Bamezai, R. N. K.;
Kumar, Rajeev;
Gupta, Narmada P.;
Das, T. K.;
Dada, Rima

Publication type:

Article

Pathogenic Heteroplasmic Somatic Mitochondrial DNA Mutation Confers Platinum-Resistance and Recurrence of High-Grade Serous Ovarian Cancer.

Published in:

Cancer Management & Research, 2020, v. 12, p. 11085, doi. 10.2147/CMAR.S277724

By:

Ni, Jing;
Wang, Yan;
Cheng, Xianzhong;
Teng, Fang;
Wang, Congyang;
Han, Suping;
Chen, Xiaoxiang;
Guo, Wenwen

Publication type:

Article

Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.

Published in:

Biogerontology, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10522-024-10175-x

By:

Chen, Jia;
Li, Hongyu;
Liang, Runyu;
Huang, Yongyin;
Tang, Qiang

Publication type:

Article

Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.

Published in:

Biogerontology, 2025, v. 26, n. 1, p. 1, doi. 10.1007/s10522-024-10175-x

By:

Chen, Jia;
Li, Hongyu;
Liang, Runyu;
Huang, Yongyin;
Tang, Qiang

Publication type:

Article

Mitochondrial DNA Mutations in Grade II and III Glioma Cell Lines Are Associated with Significant Mitochondrial Dysfunction and Higher Oxidative Stress.

Published in:

Frontiers in Physiology, 2017, v. 8, p. 1, doi. 10.3389/fphys.2017.00231

By:

Bee Hong Soon;
Murad, Nor Azian Abdul;
Sue-Mian Then;
Bakar, Azizi Abu;
Fadzil, Farizal;
Thanabalan, Jegan;
Mohd Haspani, Mohd S.;
Charng Jeng Toh;
Tamil, Azmi Mohd;
Harun, Roslan;
Wan Ngah, Wan Z.;
Jamal, Rahman

Publication type:

Article

Identifying potential pitfalls in interpreting mitochondrial DNA mutations of male infertility cases.

Published in:

Indian Journal of Medical Research, 2011, v. 134, n. 4, p. 447

By:

Palanichamy, Malliya Gounder;
Ya-Ping Zhang

Publication type:

Article

Mitochondrial DNA Deletion Mutations and Sarcopenia.

Published in:

Annals of the New York Academy of Sciences, 2002, v. 959, n. 1, p. 412, doi. 10.1111/j.1749-6632.2002.tb02111.x

By:

AIKEN, JUDD;
BUA, ENTELA;
CAO, ZHENGJIN;
LOPEZ, MARISOL;
WANAGAT, JON;
McKENZIE, DEBBIE;
McKIERNAN, SUSAN

Publication type:

Article

Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.

Published in:

Stem Cells, 2016, v. 34, n. 4, p. 801, doi. 10.1002/stem.2292

By:

Hatakeyama, Hideyuki;
Goto, Yu-ichi

Publication type:

Article

Somatic Mitochondrial DNA Mutations in Oral Cancer of Betel Quid Chewers.

Published in:

Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 310, doi. 10.1196/annals.1293.030

By:

TAN, DUAN‐JUN;
CHANG, JULIA;
CHEN, WOAN‐LING;
AGRESS, LESLEY J.;
YEH, KUN‐TU;
WANG, BAOTYAN;
WONG, LEE‐JUN C.

Publication type:

Article

Detection of mitochondrial DNA mutations by high-throughput sequencing in the blood of breast cancer patients.

Published in:

International Journal of Molecular Medicine, 2014, v. 33, n. 1, p. 77, doi. 10.3892/ijmm.2013.1559

By:

LIN HAI LI;
TAO KANG;
LIDAN CHEN;
WEIYUN ZHANG;
YANG LIAO;
JIANYUN CHEN;
YULING SHI

Publication type:

Article

A Comprehensive Review of the Contribution of Mitochondrial DNA Mutations and Dysfunction in Polycystic Ovary Syndrome, Supported by Secondary Database Analysis.

Published in:

2025

By:

Kobayashi, Hiroshi;
Matsubara, Sho;
Yoshimoto, Chiharu;
Shigetomi, Hiroshi;
Imanaka, Shogo

Publication type:

Literature Review

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Published in:

2019

By:

Kuleva, M;
Ben Miled, S;
Steffann, J;
Bonnefont, JP;
Rondeau, S;
Ville, Y;
Munnich, A;
Salomon, LJ;
Bonnefont, J P;
Salomon, L J

Publication type:

journal article

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Published in:

PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139846

By:

Singh, Bhupendra;
Owens, Kjerstin M.;
Bajpai, Prachi;
Desouki, Mohamed Mokhtar;
Srinivasasainagendra, Vinodh;
Tiwari, Hemant K.;
Singh, Keshav K.

Publication type:

Article

Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G.

Published in:

2017

By:

ALVES, Daniela;
CALMEIRO, Maria Eufémia;
MACÁRIO, Carmo;
SILVA, Rosa

Publication type:

Case Study

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNA<sup>Lys</sup> gene.

Published in:

Muscle & Nerve, 1994, v. 17, n. 1, p. 52, doi. 10.1002/mus.880170107

By:

Fang, Wan;
Huang, Chin-Chang;
Chu, Nai-Shun;
Lee, Cheng-Chun;
Chen, Rou-Shayn;
Pang, Cheng-Yoong;
Shih, Kwang-Dar;
Wei, Yau-Huei

Publication type:

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.

Published in:

Neuro-Ophthalmology, 2025, v. 49, n. 3, p. 206, doi. 10.1080/01658107.2024.2405697

By:

Thaller, M.;
Samra, A. P.;
Chaudhary, U. J.;
Roque, M.;
Pall, H.;
Mollan, S. P.;
Srinivasan, V.

Publication type:

Article

A gel electrophoresis method for detection of mitochondrial DNA mutation (3243 tRNA(Leu (UUR))) applied to a Norwegian family with diabetes mellitus and hearing loss.

Published in:

2004

By:

Akbari, M.;
Skjelbred, C.;
Følling, I.;
Sagen, J.;
Krokan, H. E.;
Følling, I

Publication type:

journal article

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.

Published in:

Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003

By:

Lopes, Tânia;
Coelho, Margarida;
Bordalo, Diana;
Bandeira, António;
Bandeira, Anabela;
Vilarinho, Laura;
Fonseca, Paula;
Carvalho, Sónia;
Martins, Cecília;
Oliveira, José Gonçalves

Publication type:

Article

Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 1, p. 59, doi. 10.1038/sj.ejhg.5200550

By:

Moilanen, Jukka S;
Majamaa, Kari

Publication type:

Article

Mitochondrial DNA mutations affect calcium handling in differentiated neurons.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 787, doi. 10.1093/brain/awq023

By:

Trevelyan, Andrew J.;
Kirby, Denise M.;
Smulders-Srinivasan, Tora K.;
Nooteboom, Marco;
Acin-Perez, Rebeca;
Enriquez, José Antonio;
Whittington, Miles A.;
Lightowlers, Robert N.;
Turnbull, Doug M.

Publication type:

Article

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 797, doi. 10.1093/brain/awq015

By:

Abramov, Andrey Y.;
Smulders-Srinivasan, Tora K.;
Kirby, Denise M.;
Acin-Perez, Rebeca;
Enriquez, José Antonio;
Lightowlers, Robert N.;
Duchen, Michael R.;
Turnbull, Douglass M.

Publication type:

Article

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation.

Published in:

2000

By:

Lodi, R;
Montagna, P;
Cortelli, P;
Iotti, S;
Cevoli, S;
Carelli, V;
Barbiroli, B

Publication type:

journal 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.

Published in:

Diabetologia, 2002, v. 45, n. 11, p. 1577, doi. 10.1007/s00125-002-0893-7

By:

Nomiyama, T.;
Tanaka, Y.;
Hattori, N.;
Nishimaki, K.;
Nagasaka, K.;
Kawamori, R.;
Ohta, S.

Publication type:

Article

Mitochondrial DNA Mutations Regulate Metastasis of Human Breast Cancer Cells.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023401

By:

Imanishi, Hirotake;
Hattori, Keisuke;
Wada, Reiko;
Ishikawa, Kaori;
Fukuda, Sayaka;
Takenaga, Keizo;
Nakada, Kazuto;
Hayashi, Jun-Ichi

Publication type:

Article

De novo mutations in mitochondrial DNA of iPSCs produce immunogenic neoepitopes in mice and humans.

Published in:

Nature Biotechnology, 2019, v. 37, n. 10, p. 1137, doi. 10.1038/s41587-019-0227-7

By:

Deuse, Tobias;
Hu, Xiaomeng;
Agbor-Enoh, Sean;
Koch, Martina;
Spitzer, Matthew H.;
Gravina, Alessia;
Alawi, Malik;
Marishta, Argit;
Peters, Bjoern;
Kosaloglu-Yalcin, Zeynep;
Yang, Yanqin;
Rajalingam, Raja;
Wang, Dong;
Nashan, Bjoern;
Kiefmann, Rainer;
Reichenspurner, Hermann;
Valantine, Hannah;
Weissman, Irving L.;
Schrepfer, Sonja

Publication type:

Article

The timing of mitochondrial DNA mutations in aging.

Published in:

Nature Genetics, 2011, v. 43, n. 8, p. 726, doi. 10.1038/ng.895

By:

Khrapko, Konstantin

Publication type:

Article