PMC Articles for MedGen (Select 1682102) - PMC

Select item 92911451.

Diagnostic yield of genetic testing in 324 infants with hypotonia

Sonal Sharma, Elena Repnikova, Janelle R. Noel‐MacDonnell, Jean‐Baptiste LePichon

Clin Genet. 2021 Dec; 100(6): 752–757. Published online 2021 Sep 16. doi: 10.1111/cge.14057

PMCID:: PMC9291145

Select item 84892562.

Hypoxia ameliorates brain hyperoxia and NAD⁺ deficiency in a murine model of Leigh syndrome

Robert M. H. Grange, Rohit Sharma, Hardik Shah, Bryn Reinstadler, Olga Goldberger, Marissa K. Cooper, Akito Nakagawa, Yusuke Miyazaki, Allyson G. Hindle, Annabelle J. Batten, Gregory R. Wojtkiewicz, Grigorij Schleifer, Aranya Bagchi, Eizo Marutani, Rajeev Malhotra, Donald B. Bloch, Fumito Ichinose, Vamsi K. Mootha, Warren M. Zapol

Mol Genet Metab. Author manuscript; available in PMC 2021 Oct 4.

Published in final edited form as: Mol Genet Metab. 2021 May; 133(1): 83–93. Published online 2021 Mar 11. doi: 10.1016/j.ymgme.2021.03.005

PMCID:: PMC8489256

Article PDF–764K

Select item 80065983.

Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Farzad Fatehi, Ali Asghar Okhovat, Yalda Nilipour, Magdalena Mroczek, Volker Straub, Ana Töpf, Aleksa Palibrk, Stojan Peric, Vidosava Rakocevic Stojanovic, Hossein Najmabadi, Shahriar Nafissi

Eur J Neurol. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Eur J Neurol. 2020 Nov; 27(11): 2257–2266. Published online 2020 Jul 24. doi: 10.1111/ene.14402

PMCID:: PMC8006598

Article PDF–1.2M

Select item 77550074.

African Mitochondrial DNA Haplogroup L2 Is Associated With Slower Decline of β-cell Function and Lower Incidence of Diabetes Mellitus in Non-Hispanic, Black Women Living With Human Immunodeficiency Virus

Jing Sun, Todd T Brown, Weiqun Tong, David Samuels, Phyllis Tien, Brahim Aissani, Bradley Aouizerat, Maria Villacres, Mark H Kuniholm, Deborah Gustafson, Katherine Michel, Mardge Cohen, Michael Schneider, Adaora A Adimora, Mohammed K Ali, Hector Bolivar, Todd Hulgan

Clin Infect Dis. 2020 Oct 15; 71(8): e218–e225. Published online 2020 Jan 12. doi: 10.1093/cid/ciaa026

PMCID:: PMC7755007

Article PDF–367K

Select item 74228185.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

Jian-Kang Li, Wei Li, Feng-Juan Gao, Shou-Fang Qu, Fang-Yuan Hu, Sheng-Hai Zhang, Li-Li Li, Zi-Wei Wang, Yong Qiu, Lu-Sheng Wang, Jie Huang, Ji-Hong Wu, Fang Chen

Transl Vis Sci Technol. 2020 Jul; 9(8): 11. Published online 2020 Jul 8. doi: 10.1167/tvst.9.8.11

PMCID:: PMC7422818

Article PDF–1.5M

Select item 70269756.

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 70051857.

Mitochondrial toxicity and body shape changes during nucleos(t)ide analogues administration in patients with chronic hepatitis B

Giordano Madeddu, Vito Fiore, Michela Melis, Silvia Ortu, Franca Mannu, Alberto Augusto Muredda, Giovanni Garrucciu, Franco Bandiera, Salvatore Zaru, Paola Bagella, Diego Francesco Calvisi, Sergio Babudieri

Sci Rep. 2020; 10: 2014. Published online 2020 Feb 6. doi: 10.1038/s41598-020-58837-3

PMCID:: PMC7005185

Article PDF–1.1M

Select item 70046368.

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations

Xueli Chang, Yaxin Wu, Jie Zhou, Huaxing Meng, Wei Zhang, Junhong Guo

Medicine (Baltimore) 2020 Jan; 99(5): e18634. Published online 2020 Jan 31. doi: 10.1097/MD.0000000000018634

PMCID:: PMC7004636

Article PDF–213K

Select item 66463209.

Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases

Masaru Shimura, Naoko Nozawa, Minako Ogawa-Tominaga, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Takuya Ishii, Kiwamu Takahashi, Tohru Tanaka, Motowo Nakajima, Yasushi Okazaki, Akira Ohtake, Kei Murayama

Sci Rep. 2019; 9: 10549. Published online 2019 Jul 22. doi: 10.1038/s41598-019-46772-x

PMCID:: PMC6646320

Article PDF–2.2M

Select item 652826010.

Curcuminoid WZ35 synergize with cisplatin by inducing ROS production and inhibiting TrxR1 activity in gastric cancer cells

Wei He, Yiqun Xia, Peihai Cao, Lin Hong, Tingting Zhang, Xin Shen, Peisen Zheng, Huanpei Shen, Guang Liang, Peng Zou

J Exp Clin Cancer Res. 2019; 38: 207. Published online 2019 May 21. doi: 10.1186/s13046-019-1215-y

PMCID:: PMC6528260

Article PDF–4.1M

Select item 631471211.

MELAS and macroangiopathy: A case report and literature review

Xiangrong Sun, Guohui Jiang, Xinyue Ju, Hongmei Fu

Medicine (Baltimore) 2018 Dec; 97(52): e13866. Published online 2018 Dec 28. doi: 10.1097/MD.0000000000013866

PMCID:: PMC6314712

Article PDF–583K

Select item 557915412.

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Erika Ogawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Mika Ishige, Tatsuo Fuchigami, Taro Yamazaki, Masato Mori, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Shori Takahashi, Akira Ohtake, Kei Murayama

J Inherit Metab Dis. 2017; 40(5): 685–693. Published online 2017 Apr 20. doi: 10.1007/s10545-017-0042-6

PMCID:: PMC5579154

Article PDF–393K

Select item 484144613.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

J Inherit Metab Dis. Author manuscript; available in PMC 2016 Apr 22.

Published in final edited form as: J Inherit Metab Dis. 2015 Sep; 38(5): 905–914. Published online 2015 Apr 14. doi: 10.1007/s10545-015-9836-6

PMCID:: PMC4841446

Article PDF–481K

Select item 449385414.

Spectrum of combined respiratory chain defects

Johannes A. Mayr, Tobias B. Haack, Peter Freisinger, Daniela Karall, Christine Makowski, Johannes Koch, René G. Feichtinger, Franz A. Zimmermann, Boris Rolinski, Uwe Ahting, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl

J Inherit Metab Dis. 2015; 38(4): 629–640. Published online 2015 Mar 17. doi: 10.1007/s10545-015-9831-y

PMCID:: PMC4493854

Article PDF–1006K

Select item 402885415.

Antioxidant activity of Coriandrum sativum and protection against DNA damage and cancer cell migration

Esther LH Tang, Jayakumar Rajarajeswaran, Shin Yee Fung, MS Kanthimathi

BMC Complement Altern Med. 2013; 13: 347. Published online 2013 Dec 9. doi: 10.1186/1472-6882-13-347

PMCID:: PMC4028854

Article PDF–768K

Select item 384655916.

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P. Steel, Ramin Badii, Paolo Gasparini

PLoS One. 2013; 8(12): e80323. Published online 2013 Dec 2. doi: 10.1371/journal.pone.0080323

PMCID:: PMC3846559

Article PDF–1.5M

Select item 351653417.

Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems

Josep M. Mercader, Montserrat Puiggros, Ayellet V. Segrè, Evarist Planet, Eleonora Sorianello, David Sebastian, Sergio Rodriguez-Cuenca, Vicent Ribas, Sílvia Bonàs-Guarch, Sorin Draghici, Chenjing Yang, Sílvia Mora, Antoni Vidal-Puig, Josée Dupuis, DIAGRAM Consortium, Jose C. Florez, MITIN Consortium, Antonio Zorzano, David Torrents

PLoS Genet. 2012 Dec; 8(12): e1003046. Published online 2012 Dec 6. doi: 10.1371/journal.pgen.1003046

PMCID:: PMC3516534

Article PDF–2.1M

Select item 300108918.

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

Emil Ylikallio, Jennifer L. Page, Xia Xu, Milla Lampinen, Gerold Bepler, Tomomi Ide, Henna Tyynismaa, Robert S. Weiss, Anu Suomalainen

Nucleic Acids Res. 2010 Dec; 38(22): 8208–8218. Published online 2010 Aug 19. doi: 10.1093/nar/gkq735

PMCID:: PMC3001089

Article PDF–4.3M

Select item 226771419.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F₁F_oATP synthase deficiency

Alena Čížková, Viktor Stránecký, Robert Ivánek, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Markéta Tesařová, Hana Hansíková, Tomáš Honzík, Jiří Zeman, Petr Divina, Andrea Potocká, Jan Paul, Wolfgang Sperl, Johannes A Mayr, Sara Seneca, Josef Houštĕk, Stanislav Kmoch

BMC Genomics. 2008; 9: 38. Published online 2008 Jan 25. doi: 10.1186/1471-2164-9-38

PMCID:: PMC2267714

Article PDF–797K

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