COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Authors :: Heeringa, Saskia F.
Chernin, Gil
Chaki, Moumita
Zhou, Weibin
Sloan, Alexis J.
Ji, Ziming
Xie, Letian X.
Salviati, Leonardo
Hurd, Toby W.
Vega-Warner, Virginia
Killen, Paul D.
Raphael, Yehoash
Ashraf, hazia
Ovunc, Bugsu
Schoeb, Dominik S.
McLaughlin, Heather M.
Airik, Rannar
Vlangos, Christopher N.
Gbadegesin, Rasheed
Hinkes, Bernward
Saisawat, Pawaree
Trevisson, Eva
Doimo, Mara
Casarin, Alberto
Pertegato, Vanessa
Giorgi, Gianpietro
Prokisch, Holger
Rotig, Agnes
Nurnberg, Gudrun
Becker, Christian
Wang, Su
Ozaltin, Fatih
Topaloglu, Rezan
Bakkaloglu, Aysin
Bakkaloglu, Sevcan A.
Muller, Dominik
Beissert, Antje
Mir, Sevgi
Berdeli, Afig
Ozen, Seza
Zenker, Martin
Matejas, Verena
Santos-Ocana, Carlos
Navas, Placido
Kusakabe, Takehiro
Kispert, Andreas
Akman, Sema
Soliman, Neveen A.
Krick, Stefanie
Mundel, Peter
Reiser, Jochen
Nurnberg, Peter
Clarke, Catherine F.
Wiggins, Roger C.
Faul, Christian
Hildebrandt, Friedhelm
Source :: Journal of Clinical Investigation. May 1, 2011, Vol. 121 Issue 5, p2013, 12 p.
Publication Year :: 2011
Abstract: 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, additional genes and disease [...]

Subjects :: Gene mutations -- Health aspects -- Research
Nephrotic syndrome -- Genetic aspects -- Risk factors -- Research
Deafness -- Genetic aspects -- Risk factors -- Research
Health care industry

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