Advillin acts upstream of phospholipase C euro1 in steroid-resistant nephrotic syndrome
Advillin acts upstream of phospholipase C euro1 in steroid-resistant nephrotic syndrome
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Author / Creator
Rao, Jia , Ashraf, Shazia , Tan, Weizhen , van der Ven, Amelie T , Gee, Heon Yung , Braun, Daniela A , Fehér, Krisztina , George, Sudeep P , Esmaeilniakooshkghazi, Amin , Choi, Won-Il , Jobst-Schwan, Tilman , Schneider, Ronen , Schmidt, Johanna Magdalena , Widmeier, Eugen , Warejko, Jillian K , Hermle, Tobias , Schapiro, David , Lovric, Svjetlana , Shril, Shirlee , Daga, Ankana , Nayir, Ahmet , Shenoy, Mohan , Tse, Yincent , Bald, Martin , Helmchen, Udo , Mir, Sevgi , Berdeli, Afig , Kari, Jameela A , El Desoky, Sherif , Soliman, Neveen A , Bagga, Arvind , Mane, Shrikant , Jairajpuri, Mohamad A , Lifton, Richard P , Khurana, Seema , Martins, Jose C and Hildebrandt, Friedhelm
Publisher
Ann Arbor: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
Ann Arbor: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted coloc...
Alternative Titles
Full title
Advillin acts upstream of phospholipase C euro1 in steroid-resistant nephrotic syndrome
Authors, Artists and Contributors
Author / Creator
Ashraf, Shazia
Tan, Weizhen
van der Ven, Amelie T
Gee, Heon Yung
Braun, Daniela A
Fehér, Krisztina
George, Sudeep P
Esmaeilniakooshkghazi, Amin
Choi, Won-Il
Jobst-Schwan, Tilman
Schneider, Ronen
Schmidt, Johanna Magdalena
Widmeier, Eugen
Warejko, Jillian K
Hermle, Tobias
Schapiro, David
Lovric, Svjetlana
Shril, Shirlee
Daga, Ankana
Nayir, Ahmet
Shenoy, Mohan
Tse, Yincent
Bald, Martin
Helmchen, Udo
Mir, Sevgi
Berdeli, Afig
Kari, Jameela A
El Desoky, Sherif
Soliman, Neveen A
Bagga, Arvind
Mane, Shrikant
Jairajpuri, Mohamad A
Lifton, Richard P
Khurana, Seema
Martins, Jose C
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1974541072
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1974541072
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI94138
