Works matching DE "MITOCHONDRIAL DNA abnormalities"

Results: 604

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

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

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

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

Analysis of the molecular mechanism of a fatal myopathy linked to a point mutation in mitochondrial DNA.

Published in:: 2000
Publication type:: Abstract

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

Investigation of the genetic diversity of domestic Capra hircus breeds reared within an early goat domestication area in Iran.

Published in:

Genetics Selection Evolution, 2014, v. 46, p. 1, doi. 10.1186/1297-9686-46-27

By:

Farhad Vahidi, Seyed Mohammad;
Tarang, Ali Reza;
Naqvi, Arif-un-Nisa;
Anbaran, Mohsen Falahati;
Boettcher, Paul;
Joost, Stephane;
Colli, Licia;
Garcia, Jose Fernando;
Ajmone-Marsan, Paolo

Publication type:

Article

Metabolic rescue in pluripotent cells from patients with mtDNA disease.

Published in:

Nature, 2015, v. 524, n. 7564, p. 234, doi. 10.1038/nature14546

By:

Ma, Hong;
Folmes, Clifford D. L.;
Wu, Jun;
Morey, Robert;
Mora-Castilla, Sergio;
Ocampo, Alejandro;
Ma, Li;
Poulton, Joanna;
Wang, Xinjian;
Ahmed, Riffat;
Kang, Eunju;
Lee, Yeonmi;
Hayama, Tomonari;
Li, Ying;
Van Dyken, Crystal;
Gutierrez, Nuria Marti;
Tippner-Hedges, Rebecca;
Koski, Amy;
Mitalipov, Nargiz;
Amato, Paula

Publication type:

Article

First robust genetic links to depression emerge.

Published in:

Nature, 2015, v. 523, n. 7560, p. 268, doi. 10.1038/523268a

By:

Ledford, Heidi

Publication type:

Article

Mitochondrial Disorders in Alzheimer's Disease.

Published in:

Biochemistry (00062979), 2021, v. 86, n. 6, p. 667, doi. 10.1134/S0006297921060055

By:

Sukhorukov, Vladimir S.;
Mudzhiri, Natalia M.;
Voronkova, Anastasia S.;
Baranich, Tatiana I.;
Glinkina, Valeria V.;
Illarioshkin, Sergey N.

Publication type:

Article

Current and Emerging Therapies for Leber Hereditary Optic Neuropathy.

Published in:

touchREVIEWS in Ophthalmology, 2023, v. 17, n. 1, p. 21, doi. 10.17925/usor.2023.17.1.21

By:

Davila-Siliezar, Pamela;
Laylani, Noor;
Douglas, Konstantinos A. A.;
Milea, Dan;
Lee, Andrew G.

Publication type:

Article

Toxic Effects of Carbendazim and n-Butyl Isocyanate, Metabolites of the Fungicide Benomyl, on Early Development in the African Clawed Frog, Xenopus laevis.

Published in:

Environmental Toxicology, 2008, v. 23, n. 1, p. 131, doi. 10.1002/tox.20338

By:

Chun-Sik Yoon;
Jung-Hyo Jin;
Joo-Hung Park;
Chang-Yeol Yeo;
Song-Ja Kim;
Yong-Gi Hwang;
Sung-Jin Hong;
Seon-Woo Cheong

Publication type:

Article

Protective Effect of Green Tea Polyphenols on Tributyltin-Induced Oxidative Damage Detected by In Vivo and In Vitro Models.

Published in:

Environmental Toxicology, 2008, v. 23, n. 1, p. 77, doi. 10.1002/tox.20312

By:

Huigang Liu;
Zonglou Guo;
Lihong Xu;
Hsu, Stephen

Publication type:

Article

The role of mitochondrial DNA mutations in coronary heart disease.

Published in:

European Review for Medical & Pharmacological Sciences, 2020, v. 24, n. 16, p. 8502

By:

DING, Y.;
GAO, B.-B.;
HUANG, J.-Y.

Publication type:

Article

Spontaneous Mutation Rates and Spectra of Respiratory-Deficient Yeast.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 501, doi. 10.3390/biom13030501

By:

Tu, Xinyu;
Wang, Fan;
Liti, Gianni;
Breitenbach, Michael;
Yue, Jia-Xing;
Li, Jing

Publication type:

Article

Shortened leukocyte telomere length in type 2 diabetes mellitus: genetic polymorphisms in mitochondrial uncoupling proteins and telomeric pathways.

Published in:

Clinical & Translational Medicine, 2016, v. 5, n. 1, p. 1, doi. 10.1186/s40169-016-0089-2

By:

Zhou, Yuling;
Ning, Zhixin;
Lee, Yvonne;
Hambly, Brett D.;
McLachlan, Craig S.

Publication type:

Article

Acetyl-l-carnitine and nucleoside reverse transcriptase inhibitor-associated neuropathy in HIV infection.

Published in:

HIV Medicine, 2009, v. 10, n. 2, p. 103, doi. 10.1111/j.1468-1293.2008.00658.x

By:

Valcour, V.;
Yeh, T.-M.;
Bartt, R.;
Clifford, D.;
Gerschenson, M.;
Evans, S. R.;
Cohen, B. A.;
Ebenezer, G. J.;
Hauer, P.;
Millar, L.;
Gould, M.;
Tran, P.;
Shikuma, C.;
Souza, S.;
McArthur, J. C.

Publication type:

Article

Mitotypes Based on Structural Variation of Mitochondrial Genomes Imply Relationships With Morphological Phenotypes and Cytoplasmic Male Sterility in Peppers.

Published in:

Frontiers in Plant Science, 2019, v. 10, p. 1, doi. 10.3389/fpls.2019.01343

By:

Jo, Yeong Deuk;
Lee, Hea-Young;
Ro, Na-Young;
Kim, Sang Hoon;
Kim, Jin-Baek;
Kang, Byoung-Cheorl;
Kang, Si-Yong

Publication type:

Article

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00245

By:

Foriel, Sarah;
Renkema, G. Herma;
Lasarzewski, Yvonne;
Berkhout, Job;
Rodenburg, Richard J.;
Smeitink, Jan A. M.;
Beyrath, Julien;
Schenck, Annette

Publication type:

Article

Current Understanding of Mitochondrial DNA in Breast Cancer.

Published in:

Breast Journal, 2009, v. 15, n. 5, p. 505, doi. 10.1111/j.1524-4741.2009.00767.x

By:

Radpour, Ramin;
Alex XiuCheng Fan;
Kohler, Corina;
Holzgreve, Wolfgang;
Xiao Yan Zhong

Publication type:

Article

Leber’s hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample.

Published in:

Ophthalmic Genetics, 2010, v. 31, n. 3, p. 126, doi. 10.3109/13816810.2010.483721

By:

Maciel-Guerra, Andréa Trevas;
Zanchetta, Luciene Maria;
Amaral Fernandes, Marcela Scabello;
Andrade, Paula Baloni;
do Amor Divino Miranda, Paulo Maurício;
Sartorato, Edi Lúcia

Publication type:

Article

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy.

Published in:

Ophthalmic Genetics, 2008, v. 29, n. 1, p. 17, doi. 10.1080/13816810701867607

By:

Shankar, Suma P.;
Fingert, John H.;
Carelli, Valerio;
Valentino, Maria L.;
King, Terri M.;
Daiger, Stephen P.;
Salomao, Solange R.;
Berezovsky, Adriana;
Belfort, Rubens;
Braun, Terri A.;
Sheffield, Val C.;
Sadun, Alfredo A.;
Stone, Edwin M.

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 method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33530-3

By:

Keraite, Ieva;
Becker, Philipp;
Canevazzi, Davide;
Frias-López, Cristina;
Dabad, Marc;
Tonda-Hernandez, Raúl;
Paramonov, Ida;
Ingham, Matthew John;
Brun-Heath, Isabelle;
Leno, Jordi;
Abulí, Anna;
Garcia-Arumí, Elena;
Heath, Simon Charles;
Gut, Marta;
Gut, Ivo Glynne

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

Mitochondrial DNA Mutations and Diabetes: Another Step toward Individualized Medicine.

Published in:

Annals of Internal Medicine, 2001, v. 134, n. 9, p. 777, doi. 10.7326/0003-4819-134-9_Part_1-200105010-00014

By:

Fischel-Ghodsian, Nathan

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

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 2, p. 201, doi. 10.1016/j.ejmhg.2012.10.005

By:

Tomoum, Hoda;
Elsayed, Solaf M.;
Berry-Kravis, Elizabeth

Publication type:

Article

Mitochondrial DNA association study of type 2 diabetes with or without ischemic stroke in Taiwan.

Published in:

BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-223

By:

Jun-Hun Loo;
Trejaut, Jean A.;
Ju-Chen Yen;
Zong-Sian Chen;
Wai-Mei Ng;
Chin-Yuan Huang;
Kuang-Nan Hsu;
Kuo-Hua Hung;
Yachun Hsiao;
Yau-Huei Wei;
Lin, Marie

Publication type:

Article

Mud crab susceptibility to disease from white spot syndrome virus is species-dependent.

Published in:

BMC Research Notes, 2010, v. 3, p. 315, doi. 10.1186/1756-0500-3-315

By:

Somboonna, Naraporn;
Mangkalanan, Seksan;
Udompetcharaporn, Attasit;
Krittanai, Chartchai;
Sritunyalucksana, Kallaya;
Flegel, T. W.

Publication type:

Article

Mitochondrial Dysfunction in Multiple Sclerosis: A Systematic Review.

Published in:

Acta Medica Iranica, 2019, v. 57, n. 1, p. 5

By:

Saberi, Alia;
Kazemi, Samaneh

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

Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03582-x

By:

Kayser, Ernst-Bernhard;
Mulholland, Michael;
Olkhova, Elizaveta A.;
Chen, Yihan;
Coulson, Holly;
Cairns, Owen;
Truong, Vivian;
James, Katerina;
Johnson, Brittany M.;
Hanaford, Allison;
Johnson, Simon C.

Publication type:

Article

THE GOOD, THE BAD, AND THE HEALTHY: HOW SPINDLE-CHROMOSOMAL COMPLEX TRANSFER CAN IMPROVE THE FUTURE.

Published in:

Albany Law Review, 2011, v. 74, n. 1, p. 361

By:

Baffi, Nicole

Publication type:

Article

The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10826, doi. 10.3390/ijms251910826

By:

Giuliano, Marika;
Santa Paola, Sandro;
Borgione, Eugenia;
Lo Giudice, Mariangela;
Di Blasi, Francesco Domenico;
Pettinato, Rosa;
Romano, Corrado;
Scuderi, Carmela

Publication type:

Article

Mitochondria in Human Fertility and Infertility.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8950, doi. 10.3390/ijms24108950

By:

Tesarik, Jan;
Mendoza-Tesarik, Raquel

Publication type:

Article

Optic Neuropathies: Current and Future Strategies for Optic Nerve Protection and Repair.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 6977, doi. 10.3390/ijms24086977

By:

Miller, Neil R.;
Tsai, Rong-Kung

Publication type:

Article

Molecular Research on Mitochondrial Dysfunction.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6845, doi. 10.3390/ijms23126845

By:

Viscomi, Carlo;
Soriano, Maria Eugenia

Publication type:

Article

Therapy Prospects for Mitochondrial DNA Maintenance Disorders.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6447, doi. 10.3390/ijms22126447

By:

Ramón, Javier;
Vila-Julià, Ferran;
Molina-Granada, David;
Molina-Berenguer, Miguel;
Melià, Maria Jesús;
García-Arumí, Elena;
Torres-Torronteras, Javier;
Cámara, Yolanda;
Martí, Ramon

Publication type:

Article

Mitochondrial DNA Alterations in Glioblastoma (GBM).

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5855, doi. 10.3390/ijms22115855

By:

Leão Barros, Mariceli Baia;
Pinheiro, Danilo do Rosário;
Borges, Bárbara do Nascimento

Publication type:

Article

Some Molecular and Cellular Stress Mechanisms Associated with Neurodegenerative Diseases and Atherosclerosis.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 699, doi. 10.3390/ijms22020699

By:

Sazonova, Margarita A.;
Sinyov, Vasily V.;
Ryzhkova, Anastasia I.;
Sazonova, Marina D.;
Kirichenko, Tatiana V.;
Khotina, Victoria A.;
Khasanova, Zukhra B.;
Doroschuk, Natalya A.;
Karagodin, Vasily P.;
Orekhov, Alexander N.;
Sobenin, Igor A.

Publication type:

Article