ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
About this item
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Author / Creator
Hoff, Sylvia , Halbritter, Jan , Epting, Daniel , Frank, Valeska , Nguyen, Thanh-Minh T , van Reeuwijk, Jeroen , Boehlke, Christopher , Schell, Christoph , Yasunaga, Takayuki , Helmstädter, Martin , Mergen, Miriam , Filhol, Emilie , Boldt, Karsten , Horn, Nicola , Ueffing, Marius , Otto, Edgar A , Eisenberger, Tobias , Elting, Mariet W , van Wijk, Joanna A E , Bockenhauer, Detlef , Sebire, Neil J , Rittig, Søren , Vyberg, Mogens , Ring, Troels , Pohl, Martin , Pape, Lars , Neuhaus, Thomas J , Elshakhs, Neveen A Soliman , Koon, Sarah J , Harris, Peter C , Grahammer, Florian , Huber, Tobias B , Kuehn, E Wolfgang , Kramer-Zucker, Albrecht , Bolz, Hanno J , Roepman, Ronald , Saunier, Sophie , Walz, Gerd , Hildebrandt, Friedhelm , Bergmann, Carsten and Lienkamp, Soeren S
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in
ANKS6
cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a protein module that includes INVS (NPHP2), NPHP3 and NEK8 (NPHP9).
Nephronophthisis is an autosomal recessive cystic kidney disease t...
Alternative Titles
Full title
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Authors, Artists and Contributors
Author / Creator
Halbritter, Jan
Epting, Daniel
Frank, Valeska
Nguyen, Thanh-Minh T
van Reeuwijk, Jeroen
Boehlke, Christopher
Schell, Christoph
Yasunaga, Takayuki
Helmstädter, Martin
Mergen, Miriam
Filhol, Emilie
Boldt, Karsten
Horn, Nicola
Ueffing, Marius
Otto, Edgar A
Eisenberger, Tobias
Elting, Mariet W
van Wijk, Joanna A E
Bockenhauer, Detlef
Sebire, Neil J
Rittig, Søren
Vyberg, Mogens
Ring, Troels
Pohl, Martin
Pape, Lars
Neuhaus, Thomas J
Elshakhs, Neveen A Soliman
Koon, Sarah J
Harris, Peter C
Grahammer, Florian
Huber, Tobias B
Kuehn, E Wolfgang
Kramer-Zucker, Albrecht
Bolz, Hanno J
Roepman, Ronald
Saunier, Sophie
Walz, Gerd
Hildebrandt, Friedhelm
Bergmann, Carsten
Lienkamp, Soeren S
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786259
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786259
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.2681