Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
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Author / Creator
Braun, Daniela A. , Lovric, Svjetlana , Schapiro, David , Schneider, Ronen , Marquez, Jonathan , Asif, Maria , Hussain, Muhammad Sajid , Daga, Ankana , Widmeier, Eugen , Rao, Jia , Ashraf, Shazia , Tan, Weizhen , Lusk, C. Patrick , Kolb, Amy , Jobst-Schwan, Tilman , Schmidt, Johanna Magdalena , Hoogstraten, Charlotte A. , Eddy, Kaitlyn , Kitzler, Thomas M. , Shril, Shirlee , Moawia, Abubakar , Schrage, Kathrin , Khayyat, Arwa Ishaq A. , Lawson, Jennifer A. , Gee, Heon Yung , Warejko, Jillian K. , Hermle, Tobias , Majmundar, Amar J. , Hugo, Hannah , Budde, Birgit , Motameny, Susanne , Altmüller, Janine , Noegel, Angelika Anna , Fathy, Hanan M. , Gale, Daniel P. , Waseem, Syeda Seema , Khan, Ayaz , Kerecuk, Larissa , Hashmi, Seema , Mohebbi, Nilufar , Ettenger, Robert , Serdaroğlu, Erkin , Alhasan, Khalid A. , Hashem, Mais , Goncalves, Sara , Ariceta, Gema , Ubetagoyena, Mercedes , Antonin, Wolfram , Baig, Shahid Mahmood , Alkuraya, Fowzan S. , Shen, Qian , Xu, Hong , Antignac, Corinne , Lifton, Richard P. , Mane, Shrikant , Nürnberg, Peter , Khokha, Mustafa K. and Hildebrandt, Friedhelm
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
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More information
Scope and Contents
Contents
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore com...
Alternative Titles
Full title
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Authors, Artists and Contributors
Author / Creator
Lovric, Svjetlana
Schapiro, David
Schneider, Ronen
Marquez, Jonathan
Asif, Maria
Hussain, Muhammad Sajid
Daga, Ankana
Widmeier, Eugen
Rao, Jia
Ashraf, Shazia
Tan, Weizhen
Lusk, C. Patrick
Kolb, Amy
Jobst-Schwan, Tilman
Schmidt, Johanna Magdalena
Hoogstraten, Charlotte A.
Eddy, Kaitlyn
Kitzler, Thomas M.
Shril, Shirlee
Moawia, Abubakar
Schrage, Kathrin
Khayyat, Arwa Ishaq A.
Lawson, Jennifer A.
Gee, Heon Yung
Warejko, Jillian K.
Hermle, Tobias
Majmundar, Amar J.
Hugo, Hannah
Budde, Birgit
Motameny, Susanne
Altmüller, Janine
Noegel, Angelika Anna
Fathy, Hanan M.
Gale, Daniel P.
Waseem, Syeda Seema
Khan, Ayaz
Kerecuk, Larissa
Hashmi, Seema
Mohebbi, Nilufar
Ettenger, Robert
Serdaroğlu, Erkin
Alhasan, Khalid A.
Hashem, Mais
Goncalves, Sara
Ariceta, Gema
Ubetagoyena, Mercedes
Antonin, Wolfram
Baig, Shahid Mahmood
Alkuraya, Fowzan S.
Shen, Qian
Xu, Hong
Antignac, Corinne
Lifton, Richard P.
Mane, Shrikant
Nürnberg, Peter
Khokha, Mustafa K.
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6159964
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6159964
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI98688
