COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
About this item
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Author / Creator
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, Shazia , 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 , Rötig, Agnès , Nürnberg, Gudrun , Becker, Christian , Wang, Su , Ozaltin, Fatih , Topaloglu, Rezan , Bakkaloglu, Aysin , Bakkaloglu, Sevcan A , Müller, Dominik , Beissert, Antje , Mir, Sevgi , Berdeli, Afig , Varpizen, Seza , Zenker, Martin , Matejas, Verena , Santos-Ocaña, Carlos , Navas, Placido , Kusakabe, Takehiro , Kispert, Andreas , Akman, Sema , Soliman, Neveen A , Krick, Stefanie , Mundel, Peter , Reiser, Jochen , Nürnberg, Peter , Clarke, Catherine F , Wiggins, Roger C , Faul, Christian and Hildebrandt, Friedhelm
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in c...
Alternative Titles
Full title
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Authors, Artists and Contributors
Author / Creator
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, Shazia
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
Rötig, Agnès
Nürnberg, Gudrun
Becker, Christian
Wang, Su
Ozaltin, Fatih
Topaloglu, Rezan
Bakkaloglu, Aysin
Bakkaloglu, Sevcan A
Müller, Dominik
Beissert, Antje
Mir, Sevgi
Berdeli, Afig
Varpizen, Seza
Zenker, Martin
Matejas, Verena
Santos-Ocaña, Carlos
Navas, Placido
Kusakabe, Takehiro
Kispert, Andreas
Akman, Sema
Soliman, Neveen A
Krick, Stefanie
Mundel, Peter
Reiser, Jochen
Nürnberg, Peter
Clarke, Catherine F
Wiggins, Roger C
Faul, Christian
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3083770
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3083770
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI45693
