PMC Articles for MedGen (Select 766263) - PMC

Select item 94821531.

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

Dong Woo Nam, Sang Soo Park, So Min Lee, Myung-Whan Suh, Moo Kyun Park, Jae-Jin Song, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Kyung Chul Moon, Yo Han Ahn, Hee Gyung Kang, Hae Il Cheong, Ji Hyun Kim, Sang-Yeon Lee

Biomed Res Int. 2022; 2022: 5250254. Published online 2022 Sep 9. doi: 10.1155/2022/5250254

PMCID:: PMC9482153

Article PDF–657K

Select item 88022302.

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

Na Wang, Youmin Zheng, Lingzi Zhang, Xiong Tian, Yicheng Fang, Ming Qi, Juping Du, Shuaishuai Chen, Shiyong Chen, Jun Li, Bo Shen, Lizhen Wang

Front Genet. 2021; 12: 811833. Published online 2022 Jan 17. doi: 10.3389/fgene.2021.811833

PMCID:: PMC8802230

Article PDF–2.3M

Select item 68161743.

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report

Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen, Linsheng Zhao

BMC Med Genet. 2019; 20: 165. Published online 2019 Oct 28. doi: 10.1186/s12881-019-0898-4

PMCID:: PMC6816174

Article PDF–1.9M

Select item 66609804.

Dominant PAX2 mutations may cause steroid resistant neprotic syndrome and FSGS in children

Asaf Vivante, Orna Chacham, Shirlee Shril, Ruth Schreiber, Neveen A. Soliman, Irene Koneth, Mario Schiffer, Yair Anikster, Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Pediatr Nephrol. 2019 Sep; 34(9): 1607–1613. Published online 2019 Apr 17. doi: 10.1007/s00467-019-04256-0

PMCID:: PMC6660980

Article PDF–191K

Select item 64840005.

Vitamin K2 cannot substitute Coenzyme Q₁₀ as electron carrier in the mitochondrial respiratory chain of mammalian cells

Cristina Cerqua, Alberto Casarin, Fabien Pierrel, Luis Vazquez Fonseca, Giampiero Viola, Leonardo Salviati, Eva Trevisson

Sci Rep. 2019; 9: 6553. Published online 2019 Apr 25. doi: 10.1038/s41598-019-43014-y

PMCID:: PMC6484000

Article PDF–1.0M

Select item 62087036.

Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Beata Lipska-Ziętkiewicz, Marcin Tkaczyk

Pediatr Nephrol. 2018; 33(12): 2383–2387. Published online 2018 Sep 19. doi: 10.1007/s00467-018-4083-3

PMCID:: PMC6208703

Article PDF–431K

Select item 38989907.

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q₁₀ deficiency

Mara Doimo, Eva Trevisson, Rannar Airik, Marc Bergdoll, Carlos Santos-Ocaña, Friedhelm Hildebrandt, Placido Navas, Fabien Pierrel, Leonardo Salviati

Biochim Biophys Acta. 2014 Jan; 1842(1): 1–6. doi: 10.1016/j.bbadis.2013.10.007

PMCID:: PMC3898990

Article

Select item 37949378.

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain

PLoS One. 2013; 8(10): e76360. Published online 2013 Oct 10. doi: 10.1371/journal.pone.0076360

PMCID:: PMC3794937

Article PDF–1.0M

Select item 30837709.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J. Sloan, Ziming Ji, Letian X. Xie, Leonardo Salviati, Toby W. Hurd, Virginia Vega-Warner, Paul D. Killen, Yehoash Raphael, Shazia Ashraf, Bugsu Ovunc, Dominik S. Schoeb, Heather M. McLaughlin, Rannar Airik, Christopher N. Vlangos, Rasheed Gbadegesin, Bernward Hinkes, Pawaree Saisawat, Eva Trevisson, Mara Doimo, Alberto Casarin, Vanessa Pertegato, Gianpietro Giorgi, Holger Prokisch, Agnès Rötig, Gudrun Nürnberg, Christian Becker, Su Wang, Fatih Ozaltin, Rezan Topaloglu, Aysin Bakkaloglu, Sevcan A. Bakkaloglu, Dominik Müller, Antje Beissert, Sevgi Mir, Afig Berdeli, Seza ϖzen, Martin Zenker, Verena Matejas, Carlos Santos-Ocaña, Placido Navas, Takehiro Kusakabe, Andreas Kispert, Sema Akman, Neveen A. Soliman, Stefanie Krick, Peter Mundel, Jochen Reiser, Peter Nürnberg, Catherine F. Clarke, Roger C. Wiggins, Christian Faul, Friedhelm Hildebrandt

J Clin Invest. 2011 May 2; 121(5): 2013–2024. Published online 2011 Apr 11. doi: 10.1172/JCI45693

PMCID:: PMC3083770

Article PDF–1.7M

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