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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, 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 SA, 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 NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F. Heeringa SF, et al. Among authors: mundel p. J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11. J Clin Invest. 2011. PMID: 21540551 Free PMC article.
Induction of B7-1 in podocytes is associated with nephrotic syndrome.
Reiser J, von Gersdorff G, Loos M, Oh J, Asanuma K, Giardino L, Rastaldi MP, Calvaresi N, Watanabe H, Schwarz K, Faul C, Kretzler M, Davidson A, Sugimoto H, Kalluri R, Sharpe AH, Kreidberg JA, Mundel P. Reiser J, et al. Among authors: mundel p. J Clin Invest. 2004 May;113(10):1390-7. doi: 10.1172/JCI20402. J Clin Invest. 2004. PMID: 15146236 Free PMC article.
Proteinuria: an enzymatic disease of the podocyte?
Mundel P, Reiser J. Mundel P, et al. Kidney Int. 2010 Apr;77(7):571-80. doi: 10.1038/ki.2009.424. Epub 2009 Nov 18. Kidney Int. 2010. PMID: 19924101 Free PMC article. Review.
Podocyte biology: a footstep further.
Mundel P, Schwarz K, Reiser J. Mundel P, et al. Adv Nephrol Necker Hosp. 2001;31:235-41. Adv Nephrol Necker Hosp. 2001. PMID: 11692462 Review. No abstract available.
158 results