COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

Publikováno v: Heeringa, S F, Chernin, G, Chaki, M, Zhou, W, Sloan, A J, Ji, Z, Xie, L X, Salviati, L, Hurd, T W, Vega-Warner, V, Killen, P D, Raphael, Y, Ashraf, S, Ovunc, B, Schoeb, D S, McLaughlin, H M, Airik, R, Vlangos, C N, Gbadegesin, R, Hinkes, B, Saisawat, P, Trevisson, E, Doimo, M, Casarin, A, Pertegato, V, Giorgi, G, Prokisch, H, Rötig, A, Nürnberg, G, Becker, C, Wang, S, Ozaltin, F, Topaloglu, R, Bakkaloglu, A, Bakkaloglu, S A, Müller, D, Beissert, A, Mir, S, Berdeli, A, Varpizen, S, Zenker, M, Matejas, V, Santos-Ocaña, C, Navas, P, Kusakabe, T, Kispert, A, Akman, S, Soliman, N A, Krick, S, Mundel, P, Reiser, J, Nürnberg, P, Clarke, C F, Wiggins, R C, Faul, C & Hildebrandt, F 2011, ' COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness ', Journal of Clinical Investigation, vol. 121, no. 5, pp. 2013-24 . https://doi.org/10.1172/JCI45693
J. Clin. Invest. 121, 2013-2024 (2011)
Digital.CSIC. Repositorio Institucional del CSIC
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WOS: 000290246800035
PubMed ID: 21540551
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, ad

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