Works matching DE "MITOCHONDRIAL DNA abnormalities"

Results: 615

Síndrome de encefalomiopatía neurogastrointestinal mitocondrial (MNGIE) familiar en tres pacientes con padres consanguíneos.

Published in:

Revista Mexicana de Neurociencia, 2010, v. 11, n. 6, p. 493

By:

Ornelas, José Ávila;
Carrillo, Cecilia Sandoval;
José, Alfonso Cruz;
Medina, Luis Partida;
Sandoval Carrillo, Bárbara Gabriela;
Estañol, Bruno

Publication type:

Article

The many faces of paediatric mitochondrial disease on neuroimaging.

Published in:

Child's Nervous System, 2016, v. 32, n. 11, p. 2077, doi. 10.1007/s00381-016-3190-3

By:

Baertling, Fabian;
Klee, Dirk;
Haack, Tobias;
Prokisch, Holger;
Meitinger, Thomas;
Mayatepek, Ertan;
Schaper, Jörg;
Distelmaier, Felix

Publication type:

Article

Comparative Study of Mitochondrial DNA Abnormalities in Mesenchymal Stem Cells after Exposure to X-Ray Radiation in Low and Medium Doses.

Published in:

Bulletin of Experimental Biology & Medicine, 2025, v. 178, n. 4, p. 541, doi. 10.1007/s10517-025-06370-6

By:

Dushenko, M. V.;
Abdullaev, S. A.;
Ignatov, M. A.;
Osipov, A. N.

Publication type:

Article

Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia.

Published in:

Eye (0950-222X), 2009, v. 23, n. 2, p. 382, doi. 10.1038/sj.eye.6703024

By:

DeBrosse, S.;
Ubogu, E. E.;
Yaniglos, S.;
Hassan, M. O.;
Leigh, R. J.

Publication type:

Article

A MATHEMATICAL MODEL OF HUMAN THYMIDINE KINASE 2 ACTIVITY.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2011, v. 30, n. 3, p. 203, doi. 10.1080/15257770.2011.563765

By:

Radivoyevitch, T.;
Munch-Petersen, B.;
Wang, L.;
Eriksson, S.

Publication type:

Article

Test: Targeted Manipulation of Mitochondrial DNA in Mammalian CelIs.

Published in:

Biochemistry & Molecular Biology Education, 2006, v. 34, n. 2, p. 131

By:

Szeberényi, József

Publication type:

Article

Mitochondrial DNA Mutations and Cognition: A Case-Series Report.

Published in:

Archives of Clinical Neuropsychology, 2014, v. 29, n. 4, p. 315, doi. 10.1093/arclin/acu016

By:

Inczedy-Farkas, Gabriella;
Trampush, Joey W.;
Perczel Forintos, Dora;
Beech, Danielle;
Andrejkovics, Monika;
Varga, Zsofia;
Remenyi, Viktoria;
Bereznai, Benjamin;
Gal, Aniko;
Molnar, Maria Judit

Publication type:

Article

UV-irradiation induces oxidative damage to mitochondrial DNA primarily through hydrogen peroxide: Analysis of 8-oxodGuo by HPLC

Published in:

Free Radical Research, 2006, v. 40, n. 11, p. 1138, doi. 10.1080/10715760600838381

By:

Takai, Daisaku;
Park, Sang-Hee;
Takada, Yasunari;
Ichinose, Shizuko;
KitagawA, Masanobu;
Akashi, Makoto

Publication type:

Article

Oxidative Stress, Mitochondrial Dysfunction, and Epilepsy.

Published in:

Free Radical Research, 2002, v. 36, n. 11, p. 1139, doi. 10.1080/1071576021000016391

By:

Patel, Manisha N.

Publication type:

Article

Mutations in mitochondrial NADH dehydrogenase subunit 1 (mtND1) gene in colorectal carcinoma.

Published in:: Malaysian Journal of Pathology, 2010, v. 32, n. 2, p. 103
Publication type:: Article

Perspective on new cell-free DNA technologies for early cancer detection.

Published in:

Cancer Biology & Medicine, 2024, v. 21, n. 2, p. 139, doi. 10.20892/j.issn.2095-3941.2023.0159

By:

Jie Li;
Xun Lan

Publication type:

Article

EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations.

Published in:

Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 341, doi. 10.1002/uog.18606

By:

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

Publication type:

Article

Assignment<FOOTREF>[sup 1] </FOOTREF> of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22→q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14→q21 by FISH and radiation hybrid mapping

Published in:

Cytogenetics & Cell Genetics, 1998, v. 83, n. 3/4, p. 226, doi. 10.1159/000015185

By:

Hofmann, S.;
Lichtner, P.;
Schuffenhauer, S.;
Gerbitz, K.-D.;
Meitinger, T.

Publication type:

Article

Two mitochondrial DNA polymorphisms modulate cardiolipin binding and lead to synthetic lethality.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-44964-2

By:

Chiang, Ason C. Y.;
Ježek, Jan;
Mu, Peiqiang;
Di, Ying;
Klucnika, Anna;
Jabůrek, Martin;
Ježek, Petr;
Ma, Hansong

Publication type:

Article

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40797-7

By:

Bianco, Salvatore Daniele;
Parca, Luca;
Petrizzelli, Francesco;
Biagini, Tommaso;
Giovannetti, Agnese;
Liorni, Niccolò;
Napoli, Alessandro;
Carella, Massimo;
Procaccio, Vincent;
Lott, Marie T.;
Zhang, Shiping;
Vescovi, Angelo Luigi;
Wallace, Douglas C.;
Caputo, Viviana;
Mazza, Tommaso

Publication type:

Article

Study Reveals Mitochondrial Role in Aging.

Published in:

JAMA: Journal of the American Medical Association, 2005, v. 294, n. 6, p. 672, doi. 10.1001/jama.294.6.672

By:

Hampton, Tracy

Publication type:

Article

Mitochondrial defects may play role in the metabolic syndrome.

Published in:

2004

By:

Hampton, Tracy

Publication type:

journal 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

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.

Published in:

Acta Neurologica Scandinavica, 2006, v. 114, n. 5, p. 350, doi. 10.1111/j.1600-0404.2006.00673.x

By:

Vanniarajan, A.;
Rajshekher, G. P.;
Joshi, M. B.;
Reddy, A. G.;
Singh, L.;
Thangaraj, Kumarasamy

Publication type:

Article

Point mutation on tRNA <sup>ser(UCN)</sup> gene of mtDNA is associated with respiratory complex i deficiency.

Published in:

2008

By:

Kiseljaković, Emina;
Hasić, Sabaheta;
Jadrić, Radivoj;
Mornjaković, Zakira;
Winterhalter-Jadrić, Mira

Publication type:

Abstract

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 3, p. 378, doi. 10.1177/0883073814530499

By:

Yiş, Uluç;
Ezgü, Fatih Süheyl;
Karakaya, Pakize;
Polat, İpek;
Arslan, Nur;
Çankaya, Tufan;
Bozkaya, Özlem Giray;
Kurul, Semra Hız

Publication type:

Article

Mitochondrial Disease: Current Understanding and Future Directions.

Published in:

2014

By:

Maria, Bernard L.

Publication type:

Conference Paper/Materials

Buccal Swab Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF).

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 398, doi. 10.1177/0883073811420870

By:

Yorns, William R.;
Valencia, Ignacio;
Jayaraman, Aditya;
Sheth, Sudip;
Legido, Agustin;
Goldenthal, Michael J.

Publication type:

Article

Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 7, p. 866, doi. 10.1177/0883073811402072

By:

Nogueira, Célia;
Carrozzo, Rosalba;
Vilarinho, Laura;
Santorelli, Filippo M.

Publication type:

Article

Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome.

Published in:

2010

By:

Debray, François-Guillaume;
Lambert, Marie;
Allard, Pierre;
Mitchell, Grant A.

Publication type:

Case Study

Depressive Episode With Catatonic Features in a Case of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).

Published in:

Journal of Child Neurology, 2009, v. 24, n. 10, p. 1307, doi. 10.1177/0883073809334380

By:

Ryu, Ju Seok;
Lee, Sook Joung;
Sung, In Young;
Ko, Tae Sung;
Yoo, Han Ik

Publication type:

Article

Clinical Characteristics and Muscle Pathology in Myopathic Mitochondrial DNA Depletion.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 7, p. 499, doi. 10.1177/088307380201700705

By:

Nevo, Yoram;
Soffer, Dov;
Kutai, Miriam;
Zelnik, Nathanel;
Saada, Anne;
Jossiphov, Joseph;
Messer, Glenda;
Shaag, Avraham;
Shahar, Eli;
Harel, Shaul;
Elpeleg, Orly

Publication type:

Article

Brief Communications.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 12, p. 818

By:

Johnson, Tiffanie R.;
Tobias, Joseph D.;
John, Barbara;
Klemm, Edzard;
Haverkamp, Fritz;
Chang-Yong Tsao;
Mendell, Jerry R.;
Dixon, Brad;
Morrow, Grant;
Shuper, Avinoam;
Stark, Batia;
Yaniv, Yitshak;
Zaizov, Rina;
Carel, Cynthia;
Sadeh, Michelle;
Steinmetz, Adam;
Shahar, Eli;
Borenstein, Annette;
Filk, Dan

Publication type:

Article

Kearns-Sayre Syndrome With a Novel Mitochondrial DNA Deletion.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 8, p. 555, doi. 10.1177/088307380001500812

By:

Marin-Garcia, Jose;
Goldenthal, Michael J.;
Sarnat, Harvey B.

Publication type:

Article

Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation.

Published in:

Journal of Child Neurology, 2000, v. 15, n. 6, p. 357

By:

Graf, William D.;
Marin-Garcia, Jose;
Gao, H.G.;
Pizzo, Senia;
Naviaux, Robert K.;
Markusic, David;
Barshop, Bruce A.;
Courchesne, Eric;
Haas, Richard H.

Publication type:

Article

Hypermethylation of Mitochondrial Cytochrome b and Cytochrome c Oxidase II Genes with Decreased Mitochondrial DNA Copy Numbers in the APP/PS1 Transgenic Mouse Model of Alzheimer's Disease.

Published in:

Neurochemical Research, 2021, v. 46, n. 3, p. 564, doi. 10.1007/s11064-020-03192-y

By:

Xu, Yingying;
Cheng, Ling;
Sun, Jing;
Li, Fan;
Liu, Xiangtian;
Wei, Yan;
Han, Min;
Zhu, Zhengyu;
Bi, Jianzhong;
Lai, Chao;
Wang, Yun

Publication type:

Article

Mitochondrial Biogenesis and Dynamics in Neurodegeneration: A Causative Relationship.

Published in:

2014

By:

Nikoletopoulou, Vassiliki;
Tavernarakis, Nektarios

Publication type:

Report

Prenatal Stress Causes Oxidative Damage to Mitochondrial DNA in Hippocampus of Offspring Rats.

Published in:

Neurochemical Research, 2009, v. 34, n. 4, p. 739

By:

Jianbin Zheng;
Hui Li;
Ning Jia;
Zhirong Suo;
Qing Cai;
Zhuanli Bai;
Daxin Cheng

Publication type:

Article

"Disappearing Infarct" Is Late‐Onset MELAS.

Published in:

Annals of Neurology, 2021, v. 90, n. 6, p. 1001, doi. 10.1002/ana.26236

By:

Landis, Timothy M.;
Hannah, William B.;
Powers, William J.

Publication type:

Article

Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".

Published in:

Annals of Neurology, 2021, v. 89, n. 3, p. 631, doi. 10.1002/ana.25999

By:

Alves, Cesar Augusto Pinheiro Ferreira;
Teixeira, Sara Reis;
Martin‐Saavedra, Juan Sebastian;
Guimarães Gonçalves, Fabrício;
Lo Russo, Francesco;
Muraresku, Colleen;
McCormick, Elizabeth M.;
Zolkipli‐Cunningham, Zarazuela;
Ganetzky, Rebecca;
Falk, Marni J.;
Vossough, Arastoo;
Goldstein, Amy;
Zuccoli, Giulio

Publication type:

Article

The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.

Published in:

Laryngoscope, 2011, v. 121, n. 6, p. 1184, doi. 10.1002/lary.21778

By:

Ealy, Megan;
Lynch, Katherine A.;
Meyer, Nicole C.;
Smith, Richard J. H.

Publication type:

Article

Mitochondrial DNA Mutation Screening in South Florida.

Published in:

Laryngoscope, 2010, v. 120, n. S3, p. S92, doi. 10.1002/lary.21299

By:

Vivero, Richard J.;
Ouyang, Xiaomei;
Yan, Denise;
Angeli, Simon;
Liu, Xue Z.

Publication type:

Article

Cerebral glucose hypometabolism is associated with mitochondrial dysfunction in patients with intractable epilepsy and cortical dysplasia.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 9, p. 1415, doi. 10.1111/epi.12731

By:

Tenney, Jeffrey R.;
Rozhkov, Leonid;
Horn, Paul;
Miles, Lili;
Miles, Michael V.

Publication type:

Article

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

Published in:

Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-163

By:

Qinjun Wei;
Shuai Wang;
Jun Yao;
Yajie Lu;
Zhibin Chen;
Guangqian Xing;
Xin Cao

Publication type:

Article

Elimination of paternal mitochondria through the lysosomal degradation pathway in C. elegans.

Published in:

Cell Research, 2011, v. 21, n. 12, p. 1662, doi. 10.1038/cr.2011.182

By:

Zhou, Qinghua;
Li, Haimin;
Xue, Ding

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

Comparative analysis of mitochondrial genomes of maize CMS-S subtypes provides new insights into male sterility stability.

Published in:

BMC Plant Biology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12870-022-03849-6

By:

Xiao, Senlin;
Xing, Jingfeng;
Nie, Tiange;
Su, Aiguo;
Zhang, Ruyang;
Zhao, Yanxin;
Song, Wei;
Zhao, Jiuran

Publication type:

Article

Mitochondrial DNA abnormalities provide mechanistic insight and predict reactive oxygen species-stimulating drug efficacy.

Published in:

BMC Cancer, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12885-021-08155-2

By:

Zaidieh, Tarek;
Smith, James R.;
Ball, Karen E.;
An, Qian

Publication type:

Article

Dynamic characteristics of the mitochondrial genome in SCNT pigs.

Published in:

Biological Chemistry, 2019, v. 400, n. 5, p. 613, doi. 10.1515/hsz-2018-0273

By:

Yin, Tao;
Wang, Jikun;
Xiang, Hai;
Pinkert, Carl A.;
Li, Qiuyan;
Zhao, Xingbo

Publication type:

Article

A Re-Assessment of Positive Selection on Mitochondrial Genomes of High-Elevation Phrynocephalus Lizards.

Published in:

Journal of Molecular Evolution, 2021, v. 89, n. 1/2, p. 95, doi. 10.1007/s00239-020-09991-9

By:

Atlas, Jared E.;
Fu, Jinzhong

Publication type:

Article

Celastrol Protects against Antimycin A-Induced Insulin Resistance in Human Skeletal Muscle Cells.

Published in:

Molecules, 2015, v. 20, n. 5, p. 8242, doi. 10.3390/molecules20058242

By:

Bakar, Mohamad Hafizi Abu;
Cheng, Kian-Kai;
Sarmidi, Mohamad Roji;
Yaakob, Harisun;
Huri, Hasniza Zaman

Publication type:

Article

Paraquat induces lung alveolar epithelial cell apoptosis via Nrf-2-regulated mitochondrial dysfunction and ER stress.

Published in:

Archives of Toxicology, 2012, v. 86, n. 10, p. 1547, doi. 10.1007/s00204-012-0873-8

By:

Chen, Ya-Wen;
Yang, Yuan-Ting;
Hung, Dong-Zong;
Su, Chin-Chuan;
Chen, Kuo-Liang

Publication type:

Article

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

Published in:

Acta Neuropathologica, 2016, v. 132, n. 3, p. 453, doi. 10.1007/s00401-016-1592-7

By:

Winter, Lilli;
Wittig, Ilka;
Peeva, Viktoriya;
Eggers, Britta;
Heidler, Juliana;
Chevessier, Frederic;
Kley, Rudolf;
Barkovits, Katalin;
Strecker, Valentina;
Berwanger, Carolin;
Herrmann, Harald;
Marcus, Katrin;
Kornblum, Cornelia;
Kunz, Wolfram;
Schröder, Rolf;
Clemen, Christoph

Publication type:

Article

The Mitochondrial ND1 3308T>C Mutation May Not Be Associated with Left Ventricular Hypertrabeculation/Noncompaction.

Published in:

Cardiology, 2011, v. 119, n. 3, p. 183, doi. 10.1159/000332575

By:

Ding, Yu;
Zhu, Hua

Publication type:

Article

Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A>G Mutation of Mitochondrial DNA.

Published in:

Cardiology, 2010, v. 115, n. 1, p. 71, doi. 10.1159/000252811

By:

Azevedo, Olga;
Vilarinho, Laura;
Almeida, Filipa;
Ferreira, Francisco;
Guardado, Joana;
Ferreira, Mariana;
Lourenço, António;
Medeiros, Rosa;
Almeida, João

Publication type:

Article