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Select item 70480871.

Comprehensive characterization of cell-free tumor DNA in plasma and urine of patients with renal tumors

Christopher G. Smith, Tina Moser, Florent Mouliere, Johanna Field-Rayner, Matthew Eldridge, Anja L. Riediger, Dineika Chandrananda, Katrin Heider, Jonathan C. M. Wan, Anne Y. Warren, James Morris, Irena Hudecova, Wendy N. Cooper, Thomas J. Mitchell, Davina Gale, Andrea Ruiz-Valdepenas, Tobias Klatte, Stephan Ursprung, Evis Sala, Antony C. P. Riddick, Tevita F. Aho, James N. Armitage, Samantha Perakis, Martin Pichler, Maximilian Seles, Gabriel Wcislo, Sarah J. Welsh, Athena Matakidou, Tim Eisen, Charles E. Massie, Nitzan Rosenfeld, Ellen Heitzer, Grant D. Stewart

Genome Med. 2020; 12: 23. Published online 2020 Feb 28. doi: 10.1186/s13073-020-00723-8

PMCID:: PMC7048087

Article PDF–2.0M

Select item 70442532.

Identification of World War II bone remains found in Ukraine using classical anthropological and mitochondrial DNA results

Eszter Dudás, Éva Susa, Horolma Pamjav, Zoltán Szabolcsi

Int J Legal Med. 2020; 134(2): 487–489. Published online 2019 Mar 13. doi: 10.1007/s00414-019-02026-z

PMCID:: PMC7044253

Article PDF–296K

Select item 70271953.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Article PDF–1.2M

Select item 70269754.

Platelet mitochondrial DNA methylation predicts future cardiovascular outcome in adults with overweight and obesity

Sarah Corsi, Simona Iodice, Luisella Vigna, Akin Cayir, John C. Mathers, Valentina Bollati, Hyang-Min Byun

Clin Epigenetics. 2020; 12: 29. Published online 2020 Feb 17. doi: 10.1186/s13148-020-00825-5

PMCID:: PMC7026975

Article PDF–1.2M

Select item 70114855.

Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA^Thr Gene

Ke Li, Lijun Wu, Jianjiang Liu, Wei Lin, Qiang Qi, Tianlan Zhao

J Diabetes Res. 2020; 2020: 2057187. Published online 2020 Jan 30. doi: 10.1155/2020/2057187

PMCID:: PMC7011485

Article PDF–1.4M

Select item 70056296.

A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information

Ornella Vitale, Roberto Preste, Donato Palmisano, Marcella Attimonelli

Mol Genet Genomic Med. 2020 Feb; 8(2): e1085. Published online 2019 Dec 10. doi: 10.1002/mgg3.1085

PMCID:: PMC7005629

Article PDF–750K

Select item 69883067.

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova

BMC Pediatr. 2020; 20: 41. Published online 2020 Jan 29. doi: 10.1186/s12887-020-1912-x

PMCID:: PMC6988306

Article PDF–2.8M

Select item 69751718.

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Carola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Direnis Erdinc, Jay P. Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors

Neurol Genet. 2020 Feb; 6(1): e391. Published online 2020 Jan 10. doi: 10.1212/NXG.0000000000000391

PMCID:: PMC6975171

Article PDF–864K

Select item 69659709.

Mitochondrial COI/tRNA^Ser(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family

Yu Ding, Bo-Hou Xia, Yao-Shu Teng, Guang-Chao Zhuo, Jian-Hang Leng

Int J Clin Exp Pathol. 2017; 10(9): 9496–9502. Published online 2017 Sep 1.

PMCID:: PMC6965970

Article PDF–522K

Select item 696525310.

Clinical and molecular features of a Han Chinese family with maternally transmitted hypertension

Jianzhi Shao, Changgong Chen, Wenhui Lin, Zhibing Dong, Ranran Gao, Caiming Chen, Bin Lin, Junzheng Chen, Jinzhong Xu

Int J Clin Exp Pathol. 2017; 10(7): 7384–7389. Published online 2017 Jul 1.

PMCID:: PMC6965253

Article PDF–455K

Select item 694745311.

D-loop Mutations in Renal Cell Carcinoma Improve Predictive Accuracy for Cancer-Related Death by Integrating with Mutations in the NADH Dehydrogenase Subunit 1 Gene

Hakushi Kim, Tomoyoshi Komiyama, Masahiro Nitta, Yoshiaki Kawamura, Masanori Hasegawa, Sunao Shoji, Yasushi Orihashi, Chie Inomoto, Hiroshi Kajiwara, Naoya Nakamura, Hiroyuki Kobayashi, Akira Miyajima

Genes (Basel) 2019 Dec; 10(12): 998. Published online 2019 Dec 2. doi: 10.3390/genes10120998

PMCID:: PMC6947453

Article PDF–2.0M

Select item 694467712.

Obesity associated with a novel mitochondrial tRNA^Cys 5802A>G mutation in a Chinese family

Jinling Wang, Ningning Zhao, Xiaoting Mao, Feilong Meng, Ke Huang, Guanping Dong, Yanchun Ji, JunFen Fu

Biosci Rep. 2020 Jan 31; 40(1): BSR20192153. Published online 2020 Jan 6. doi: 10.1042/BSR20192153

PMCID:: PMC6944677

Article PDF–780K

Select item 694078813.

The Detection and Partial Localisation of Heteroplasmic Mutations in the Mitochondrial Genome of Patients with Diabetic Retinopathy

Afshan N. Malik, Hannah S. Rosa, Eliane S. de Menezes, Priyanka Tamang, Zaidi Hamid, Anita Naik, Chandani Kiran Parsade, Sobha Sivaprasad

Int J Mol Sci. 2019 Dec; 20(24): 6259. Published online 2019 Dec 11. doi: 10.3390/ijms20246259

PMCID:: PMC6940788

Article PDF–1.0M

Select item 692544514.

Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy

Florence van Tienen, Ruby Zelissen, Erika Timmer, Marike van Gisbergen, Patrick Lindsey, Mattia Quattrocelli, Maurilio Sampaolesi, Elvira Mulder-den Hartog, Irenaeus de Coo, Hubert Smeets

Stem Cell Res Ther. 2019; 10: 405. Published online 2019 Dec 21. doi: 10.1186/s13287-019-1510-8

PMCID:: PMC6925445

Article PDF–1.4M

Select item 691295015.

Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation

Zhenxiao Zhang, Mingyang Liu, Jianshuai He, Xiaotian Zhang, Yuehua Chen, Hui Li

BMC Cardiovasc Disord. 2019; 19: 293. Published online 2019 Dec 16. doi: 10.1186/s12872-019-01284-4

PMCID:: PMC6912950

Article PDF–2.9M

Select item 691278516.

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

Irene Bravo-Alonso, Rosa Navarrete, Ana Isabel Vega, Pedro Ruíz-Sala, María Teresa García Silva, Elena Martín-Hernández, Pilar Quijada-Fraile, Amaya Belanger-Quintana, Sinziana Stanescu, María Bueno, Isidro Vitoria, Laura Toledo, María Luz Couce, Inmaculada García-Jiménez, Ricardo Ramos-Ruiz, Miguel Ángel Martín, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Begoña Merinero, Belén Pérez, Pilar Rodríguez-Pombo

J Clin Med. 2019 Nov; 8(11): 1811. Published online 2019 Nov 1. doi: 10.3390/jcm8111811

PMCID:: PMC6912785

Article PDF–2.0M

Select item 689629317.

Mitochondrial tRNA^Ala 5601C>T variant may affect the clinical expression of the LHON-related ND4 11778G>A mutation in a family

Yu Ding, Yu-Feng Ye, Mei-Ya Li, Bo-Hou Xia, Jian-Hang Leng

Mol Med Rep. 2020 Jan; 21(1): 201–208. Published online 2019 Nov 22. doi: 10.3892/mmr.2019.10844

PMCID:: PMC6896293

Article PDF–503K

Select item 688392018.

Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans

Juliane Russlies, Anke Fähnrich, Mareike Witte, Junping Yin, Sandrine Benoit, Regine Gläser, Claudia Günter, Rüdiger Eming, Jeanette Erdmann, Damian Gola, Yask Gupta, Maike Marleen Holtsche, Johannes S. Kern, Inke R. König, Dimitra Kiritsi, Wolfgang Lieb, Christian D. Sadik, Miklós Sárdy, Franziska Schauer, Nina van Beek, Anke Weidinger, Margitta Worm, Detlef Zillikens, Enno Schmidt, Hauke Busch, Saleh M. Ibrahim, Misa Hirose

Front Immunol. 2019; 10: 2200. Published online 2019 Nov 22. doi: 10.3389/fimmu.2019.02200

PMCID:: PMC6883920

Article PDF–794K

Select item 687979719.

Multi-walled carbon nanotubes upregulate mitochondrial gene expression and trigger mitochondrial dysfunction in primary human bronchial epithelial cells

Ryan J. Snyder, K.C. Verhein, H.L. Vellers, A.B. Burkholder, S. Garantziotis, S.R. Kleeberger

Nanotoxicology. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Nanotoxicology. 2019 Dec; 13(10): 1344–1361. Published online 2019 Sep 3. doi: 10.1080/17435390.2019.1655107

PMCID:: PMC6879797

Article PDF–1.9M

Select item 687455420.

A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing

Yue Yao, Motoi Nishimura, Kei Murayama, Naomi Kuranobu, Satomi Tojo, Minako Beppu, Takayuki Ishige, Sakae Itoga, Sachio Tsuchida, Masato Mori, Masaki Takayanagi, Masataka Yokoyama, Kazuyuki Yamagata, Yoshihito Kishita, Yasushi Okazaki, Fumio Nomura, Kazuyuki Matsushita, Tomoaki Tanaka

Sci Rep. 2019; 9: 17411. Published online 2019 Nov 22. doi: 10.1038/s41598-019-53449-y

PMCID:: PMC6874554

Article PDF–1.1M

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