Works matching DE "MITOCHONDRIAL DNA abnormalities"

Results: 620

Past, present and future of research on brain energy metabolism in bipolar disorder.

Published in:

World Psychiatry, 2025, v. 24, n. 1, p. 47, doi. 10.1002/wps.21266

By:

Berk, Michael;
Walder, Ken;
Kim, Jee Hyun

Publication type:

Article

The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.

Published in:

2025

By:

Zhang, Ning;
Zhang, Zhikang;
Zhang, Ying;
Su, Xun;
Gao, Yuzhou;
Yang, Jing;
Zou, Weiwei;
Ji, Dongmei;
Cao, Yunxia

Publication type:

Letter

Easing US restrictions on mitochondrial replacement therapy would protect research interests but grease the slippery slope.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 9, p. 1781, doi. 10.1007/s10815-019-01529-3

By:

Keefe, David L.

Publication type:

Article

Effect of acteoside on the re-localization and abnormal morphology of mitochondria in porcine oocytes during in vitro maturation.

Published in:

Journal of Assisted Reproduction & Genetics, 2016, v. 33, n. 7, p. 939, doi. 10.1007/s10815-016-0729-x

By:

Kim, Keun;
Chun, Ju;
Lee, Kyung-Bon;
Lee, Ji;
Park, Kang-Sun;
Han, Kil;
Lee, Bo;
Kim, Eun;
Kim, Jin;
Kim, Min

Publication type:

Article

Mutation analysis in 16 patients with mtDNA depletionCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #606 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135

By:

R. Carrozzo;
B. Bornstein;
S. Lucioli;
Y. Campos;
P. de la Pena;
N. Petit;
C. Dionisi?Vici;
L. Vilarinho;
T. Rizza;
E. Bertini;
R. Garesse;
F.M. Santorelli;
J. Arenas

Publication type:

Article

Mutation analysis in 16 patients with mtDNA depletion (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #606 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/606.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 453, doi. 10.1002/humu.9135

By:

R. Carrozzo;
B. Bornstein;
S. Lucioli;
Y. Campos;
P. de la Pena;
N. Petit;
C. Dionisi-Vici;
L. Vilarinho;
T. Rizza;
E. Bertini;
R. Garesse;
F.M. Santorelli;
J. Arenas

Publication type:

Article

Comparison of whole mitochondrial genome variants between hair shafts and reference samples using massively parallel sequencing.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 3, p. 853, doi. 10.1007/s00414-019-02205-y

By:

Kim, Bo Min;
Hong, Sae Rom;
Chun, Hein;
Kim, Sangwoo;
Shin, Kyoung-Jin

Publication type:

Article

Expression of the cytoplasmic domain of β1 integrin induces apoptosis in adult rat ventricular myocytes (ARVM) via the involvement of caspase-8 and mitochondrial death pathway.

Published in:

Basic Research in Cardiology, 2006, v. 101, n. 6, p. 485, doi. 10.1007/s00395-006-0602-7

By:

Menon, Bindu;
Krishnamurthy, Prasanna;
Kaverina, Ekaterina;
Johnson, Jennifer N.;
Ross, Robert S.;
Singh, Mahipal;
Singh, Krishna

Publication type:

Article

Mitochondrial genome stability in human: understanding the role of DNA repair pathways.

Published in:

Biochemical Journal, 2021, v. 478, n. 6, p. 1179, doi. 10.1042/BCJ20200920

By:

Dahal, Sumedha;
Raghavan, Sathees C.

Publication type:

Article

Policy update.

Published in:: Biologist, 2017, v. 64, n. 1, p. 8
Publication type:: Article

Mitochondrial genomes and genetic structure of the Kemp's ridley sea turtle (Lepidochelys kempii).

Published in:

Ecology & Evolution (20457758), 2020, v. 10, n. 1, p. 249, doi. 10.1002/ece3.5891

By:

Frandsen, Hilary R.;
Figueroa, Diego F.;
George, Jeff A.

Publication type:

Article

The effects of allospecific mitochondrial genome on the fitness of northern redbelly dace (Chrosomus eos).

Published in:

Ecology & Evolution (20457758), 2018, v. 8, n. 6, p. 3311, doi. 10.1002/ece3.3922

By:

Angers, Bernard;
Leung, Christelle;
Vétil, Romain;
Deremiens, Léo;
Vergilino, Roland

Publication type:

Article

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

Published in:

Neuropathology & Applied Neurobiology, 2016, v. 42, n. 2, p. 180, doi. 10.1111/nan.12238

By:

Lax, Nichola Z.;
Grady, John;
Laude, Alex;
Chan, Felix;
Hepplewhite, Philippa D.;
Gorman, Grainne;
Whittaker, Roger G.;
Ng, Yi;
Cunningham, Mark O.;
Turnbull, Doug M.

Publication type:

Article

Mitochondrial and inflammatory changes in sporadic inclusion body myositis.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 288, doi. 10.1111/nan.12149

By:

Rygiel, Karolina A.;
Miller, James;
Grady, John P.;
Rocha, Mariana C.;
Taylor, Robert W.;
Turnbull, Doug M.

Publication type:

Article

Mitochondrial DNA deletions and depletion within paraspinal muscles.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 377, doi. 10.1111/j.1365-2990.2012.01290.x

By:

Campbell, G. R.;
Reeve, A.;
Ziabreva, I.;
Polvikoski, T. M.;
Taylor, R. W.;
Reynolds, R.;
Turnbull, D. M.;
Mahad, D. J.

Publication type:

Article

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

Published in:

Neuropathology & Applied Neurobiology, 2006, v. 32, n. 4, p. 359, doi. 10.1111/j.1365-2990.2006.00731.x

By:

Betts, J.;
Jaros, E.;
Perry, R. H.;
Schaefer, A. M.;
Taylor, R. W.;
Abdel-All, Z.;
Lightowlers, R. N.;
Turnbull, D. M.

Publication type:

Article

Loss of autophagy promotes murine acetaminophen hepatotoxicity.

Published in:

Journal of Gastroenterology, 2012, v. 47, n. 4, p. 433, doi. 10.1007/s00535-011-0500-0

By:

Igusa, Yuki;
Yamashina, Shunhei;
Izumi, Kousuke;
Inami, Yoshihiro;
Fukada, Hiroo;
Komatsu, Masaaki;
Tanaka, Keiji;
Ikejima, Kenichi;
Watanabe, Sumio

Publication type:

Article

Secondary mutations of mitochondrial DNA in Japanese patients withLeber's hereditary optic neuropathy.

Published in:

Ophthalmic Genetics, 1999, v. 20, n. 3, p. 153, doi. 10.1076/opge.20.3.153.2281

By:

Matsumoto, Masayuki;
Hayasaka, Seiji;
Kadoi, Chiharu;
Hotta, Yoshihiro;
Fujiki, Keiko;
Fujimaki, Takuro;
Takeda, Misako;
Ishida, Nobuo;
Endo, Shinichiro;
Kanai, Atsushi

Publication type:

Article

A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting.

Published in:

2003

By:

Salpietro, Carmelo Damiano;
Briuglia, Silvana;
Merlino, Maria Valeria;
di Bella, Chiara;
Rigoli, Luciana

Publication type:

journal article

Mitochondrial DNA disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S219, doi. 10.1007/PL00014407

By:

Naviaux, Robert K.

Publication type:

Article

Prospects of Germline Nuclear Transfer in Women With Diminished Ovarian Reserve.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.635370

By:

Christodoulaki, Antonia;
Boel, Annekatrien;
Tang, Maoxing;
De Roo, Chloë;
Stoop, Dominic;
Heindryckx, Björn

Publication type:

Article

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

Published in:

Genes, 2024, v. 15, n. 4, p. 500, doi. 10.3390/genes15040500

By:

Misceo, Doriana;
Strømme, Petter;
Bitarafan, Fatemeh;
Chawla, Maninder Singh;
Sheng, Ying;
Bach de Courtade, Sandra Monica;
Eide, Lars;
Frengen, Eirik

Publication type:

Article

Mitochondrial Genetic Heterogeneity in Leber's Hereditary Optic Neuropathy: Original Study with Meta-Analysis.

Published in:

Genes, 2021, v. 12, n. 9, p. 1300, doi. 10.3390/genes12091300

By:

Jha, Rajan Kumar;
Dawar, Chhavi;
Hasan, Qurratulain;
Pujar, Akhilesh;
Gupta, Gaurav;
Vishnu, Venugopalan Y.;
Kekunnaya, Ramesh;
Thangaraj, Kumarasamy

Publication type:

Article

Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.

Published in:

Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247

By:

Di Nottia, Michela;
Verrigni, Daniela;
Torraco, Alessandra;
Rizza, Teresa;
Bertini, Enrico;
Carrozzo, Rosalba;
Lezza, Angela Maria Serena

Publication type:

Article

Effects of mitoTALENs-Directed Double-Strand Breaks on Plant Mitochondrial Genomes.

Published in:

Genes, 2021, v. 12, n. 2, p. 153, doi. 10.3390/genes12020153

By:

Arimura, Shin-ichi;
Gualberto, José M.;
Molinier, Jean

Publication type:

Article

Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches.

Published in:

Genes, 2021, v. 12, n. 1, p. 112, doi. 10.3390/genes12010112

By:

García-López, Marta;
Arenas, Joaquín;
Gallardo, M. Esther

Publication type:

Article

Mitochondrial Sequencing of Missing Persons DNA Casework by Implementing Thermo Fisher's Precision ID mtDNA Whole Genome Assay.

Published in:

Genes, 2020, v. 11, n. 11, p. 1303, doi. 10.3390/genes11111303

By:

Cuenca, Daniela;
Battaglia, Jessica;
Halsing, Michelle;
Sheehan, Sandra

Publication type:

Article

Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.

Published in:

Genes, 2020, v. 11, n. 9, p. 1037, doi. 10.3390/genes11091037

By:

Dawod, Phepy G. A.;
Jancic, Jasna;
Marjanovic, Ana;
Brankovic, Marija;
Jankovic, Milena;
Samardzic, Janko;
Potkonjak, Dario;
Djuric, Vesna;
Mesaros, Sarlota;
Novakovic, Ivana;
Abdel Motaleb, Fayda I.;
Kostic, Vladimir S.;
Nikolic, Dejan

Publication type:

Article

Pathogenic Mitochondria DNA Mutations: Current Detection Tools and Interventions.

Published in:

Genes, 2020, v. 11, n. 2, p. 192, doi. 10.3390/genes11020192

By:

Mustafa, Mohd Fazirul;
Fakurazi, Sharida;
Abdullah, Maizaton Atmadini;
Maniam, Sandra

Publication type:

Article

Phylogenetic Analysis and Substitution Rate Estimation of Colonial Volvocine Algae Based on Mitochondrial Genomes.

Published in:

Genes, 2020, v. 11, n. 1, p. 115, doi. 10.3390/genes11010115

By:

Hu, Yuxin;
Xing, Weiyue;
Hu, Zhengyu;
Liu, Guoxiang

Publication type:

Article

Leishmania Mitochondrial Genomes: Maxicircle Structure and Heterogeneity of Minicircles.

Published in:

Genes, 2019, v. 10, n. 10, p. 758, doi. 10.3390/genes10100758

By:

Camacho, Esther;
Rastrojo, Alberto;
Sanchiz, África;
González-de la Fuente, Sandra;
Aguado, Begoña;
Requena, Jose M.

Publication type:

Article

Going Deeper into High and Low Phylogenetic Relationships of Protura.

Published in:

Genes, 2019, v. 10, n. 4, p. 292, doi. 10.3390/genes10040292

By:

Carapelli, Antonio;
Bu, Yun;
Chen, Wan-Jun;
Nardi, Francesco;
Leo, Chiara;
Frati, Francesco;
Luan, Yun-Xia

Publication type:

Article

Association of mitochondrial DNA copy number with self-rated health status.

Published in:

Application of Clinical Genetics, 2018, v. 11, p. 121, doi. 10.2147/TACG.S167640

By:

Takahashi, Paul Y;
Jenkins, Gregory D;
Welkie, Benjamin P;
McDonnell, Shannon K;
Evans, Jared M;
Cerhan, James R;
Olson, Janet E;
Thibodeau, Steven N;
Cicek, Mine S;
Ryu, Euijung

Publication type:

Article

Bilateral Progressive Visual Loss in an Epileptic, Mentally Retarded Boy.

Published in:

Middle East African Journal of Ophthalmology, 2011, v. 18, n. 1, p. 67, doi. 10.4103/0974-9233.75892

By:

Guerriero, Silvana;
Vetrugno, Michele;
Ciracì, Lorenza;
Artuso, Lucia;
Dell'Aglio, Rosa;
Petruzzella, Vittoria

Publication type:

Article

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1550, doi. 10.1038/ejhg.2009.88

By:

Bredenoord, Annelien;
Dondorp, Wybo;
Pennings, Guido;
de Die-Smulders, Christine;
Smeets, Bert;
de Wert, Guido

Publication type:

Article

mtDNA haplogroup J: a contributing factor of optic neuritis.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 404, doi. 10.1038/sj.ejhg.5200293

By:

Reynier, Pascal;
Penisson-Besnier, Isabelle;
Moreau, Corinne;
Savagner, Frédérique;
Vielle, Bruno;
Emile, Jean;
Dubas, Frédéric;
Malthièry, Yves

Publication type:

Article

LMX1B 17-bp Deletion and A3243G mtDNA Transition in a Previously Described Patient.

Published in:

European Neurology, 2003, v. 49, n. 3, p. 186, doi. 10.1159/000069078

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

Mitochondrial DNA Damage Mediates Hyperoxic Dysmorphogenesis in Rat Fetal Lung Explants.

Published in:

Neonatology (16617800), 2013, v. 103, n. 2, p. 91, doi. 10.1159/000342632

By:

Gebb, Sarah a.;
DeCoux, ashley;
Waggoner, alicia;
Wilson, Glenn L.;
Gillespie, Mark N.

Publication type:

Article

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.

Published in:

Molecular Brain, 2012, v. 5, n. 1, p. 35, doi. 10.1186/1756-6606-5-35

By:

Yoichi Imaizumi;
Yohei Okada;
Wado Akamatsu;
Masato Koike;
Naoko Kuzumaki;
Hideki Hayakawa;
Tomoko Nihira;
Tetsuro Kobayashi;
Manabu Ohyama;
Shigeto Sato;
Masashi Takanashi;
Manabu Funayama;
Akiyoshi Hirayama;
Tomoyoshi Soga;
Takako Hishiki;
Makoto Suematsu;
Takuya Yagi;
Daisuke Ito;
Arifumi Kosakai;
Kozo Hayashi

Publication type:

Article

Preimplantation genetic testing as a preventive strategy for the transmission of mitochondrial DNA disorders.

Published in:

Systems Biology in Reproductive Medicine, 2024, v. 70, n. 1, p. 38, doi. 10.1080/19396368.2024.2306389

By:

Lan, Xinpeng;
Ao, Wu Liji;
Li, Ji

Publication type:

Article

Mitochondrial DNA variants in Bulgarian patients affected by multiple sclerosis.

Published in:

European Journal of Neurology, 2007, v. 14, n. 1, p. 44, doi. 10.1111/j.1468-1331.2006.01541.x

By:

Mihailova, S. M.;
Ivanova, M. I.;
Quin, L. M.;
Naumova, E. J.

Publication type:

Article

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

Published in:

PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0203198

By:

Hoff, Kirsten E.;
DeBalsi, Karen L.;
Sanchez-Quintero, Maria J.;
Longley, Matthew J.;
Hirano, Michio;
Naini, Ali B.;
Copeland, William C.

Publication type:

Article

Comparison of mitochondrial genome and development of specific PCR primers for identifying two scuticociliates, Pseudocohnilembus persalinus and Uronema marinum.

Published in:

Parasites & Vectors, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13071-021-04821-3

By:

Huang, Yu-Xi;
Wang, Sen;
Gao, Yan-Qi;
Chen, Jie-Hu;
Wang, Xiu-Li;
Li, Rui-Jun

Publication type:

Article

Mitochondrial DNA Damage and the Involvement of Antioxidant Defense and Repair System in Hippocampi of Rats with Chronic Seizures.

Published in:

Cellular & Molecular Neurobiology, 2010, v. 30, n. 6, p. 947, doi. 10.1007/s10571-010-9524-x

By:

Lin, Youting;
Han, Yuxiang;
Xu, Jingjing;
Cao, Lili;
Gao, Jing;
Xie, Nanchang;
Zhao, Xiuhe;
Jiang, Hong;
Chi, Zhaofu

Publication type:

Article

Mitochondrial genetic variation in human bioenergetics, adaptation, and adult disease.

Published in:

American Journal of Human Biology, 2022, v. 34, n. 2, p. 1, doi. 10.1002/ajhb.23629

By:

Friedrich, Volney K.;
Rubel, Meagan A.;
Schurr, Theodore G.

Publication type:

Article

Disturbances of calcium phosphate metabolism in childhood endocrinopathies - diagnostic problems.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 3, p. 175, doi. 10.5114/pedm.2022.118314

By:

Roztoczyńska, Dorota

Publication type:

Article

Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases.

Published in:

Acta Paediatrica, 2009, v. 98, n. 11, p. 1825, doi. 10.1111/j.1651-2227.2009.01428.x

By:

Jeong Tae Kim;
Yun Jin Lee;
Young Mock Lee;
Hoon Chul Kang;
Joon Soo Lee;
Heung Dong Kim

Publication type:

Article

Evaluation of renal function in children with mitochondrial respiratory chain complex defect: usefulness of cystatin C.

Published in:

Acta Paediatrica, 2009, v. 98, n. 6, p. 1014, doi. 10.1111/j.1651-2227.2009.01249.x

By:

Soon Min Lee;
Ji Hong Kim;
Young Mock Lee;
Joon Soo Lee;
Heung Dong Kim

Publication type:

Article

Mitochondrial manipulations.

Published in:: Nature Medicine, 2014, v. 20, n. 5, p. 451, doi. 10.1038/nm.3570
Publication type:: Article

When powerhouses fail.

Published in:

Nature Medicine, 2010, v. 16, n. 6, p. 625, doi. 10.1038/nm0610-625

By:

Westly, Erica

Publication type:

Article