PMC Links for Nucleotide (Select 1519246293) - PMC

Select item 58387951.

Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function

Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J. Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori, Placido Navas, Eva Trevisson, Leonardo Salviati

Hum Mutat. 2018 Mar; 39(3): 406–414. Published online 2017 Dec 18. doi: 10.1002/humu.23376

PMCID:: PMC5838795

Abstract Article PDF–1.0M

Select item 50124272.

Cerebellar Ataxia and Coenzyme Q Deficiency Through Loss of Unorthodox Kinase Activity

Jonathan A. Stefely, Floriana Licitra, Leila Laredj, Andrew G. Reidenbach, Zachary A. Kemmerer, Anais Grangeray, Tiphaine Jaeg-Ehret, Catherine E. Minogue, Arne Ulbrich, Paul D. Hutchins, Emily M. Wilkerson, Zheng Ruan, Deniz Aydin, Alexander S. Hebert, Xiao Guo, Elyse C. Freiberger, Laurence Reutenauer, Adam Jochem, Maya Chergova, Isabel E. Johnson, Danielle C. Lohman, Matthew J. P. Rush, Nicholas W. Kwiecien, Pankaj K. Singh, Anna I. Schlagowski, Brendan J. Floyd, Ulrika Forsman, Pavel J. Sindelar, Michael S. Westphall, Fabien Pierrel, Joffrey Zoll, Matteo Dal Peraro, Natarajan Kannan, Craig A. Bingman, Joshua J. Coon, Philippe Isope, Hélène Puccio, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 608–620. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.030

PMCID:: PMC5012427

Abstract Article PDF–2.2M

Select item 38594253.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ₁₀ biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X. Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Avila-Casado, Andrew D. Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, Edgar A. Otto, Moumita Barua, Mohamed H. Al-Hamed, Jameela A. Kari, Jonathan Evans, Agnieszka Bierzynska, Moin A. Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu O. Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S. Williams, Martin Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt

J Clin Invest. 2013 Dec 2; 123(12): 5179–5189. Published online 2013 Nov 25. doi: 10.1172/JCI69000

PMCID:: PMC3859425

Abstract Article PDF–2.9M

Select item 29434764.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 62519005.

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

Shogo Minamikawa, Kandai Nozu, Shingo Maeta, Tomohiko Yamamura, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Hiroaki Nagase, Hideaki Shima, Kenta Noda, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima

Sci Rep. 2018; 8: 17322. Published online 2018 Nov 23. doi: 10.1038/s41598-018-35798-2

PMCID:: PMC6251900

Abstract Article PDF–1006K

Select item 62458976.

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

BMC Med Genet. 2018; 19: 200. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0714-6

PMCID:: PMC6245897

Abstract Article PDF–710K

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