FAT1 mutations cause a glomerulotubular nephropathy
FAT1 mutations cause a glomerulotubular nephropathy
About this item
Full title
Author / Creator
Gee, Heon Yung , Sadowski, Carolin E. , Aggarwal, Pardeep K. , Porath, Jonathan D. , Yakulov, Toma A. , Schueler, Markus , Lovric, Svjetlana , Ashraf, Shazia , Braun, Daniela A. , Halbritter, Jan , Fang, Humphrey , Airik, Rannar , Vega-Warner, Virginia , Cho, Kyeong Jee , Chan, Timothy A. , Morris, Luc G. T. , ffrench-Constant, Charles , Allen, Nicholas , McNeill, Helen , Büscher, Rainer , Kyrieleis, Henriette , Wallot, Michael , Gaspert, Ariana , Kistler, Thomas , Milford, David V. , Saleem, Moin A. , Keng, Wee Teik , Alexander, Stephen I. , Valentini, Rudolph P. , Licht, Christoph , Teh, Jun C. , Bogdanovic, Radovan , Koziell, Ania , Bierzynska, Agnieszka , Soliman, Neveen A. , Otto, Edgar A. , Lifton, Richard P. , Holzman, Lawrence B. , Sibinga, Nicholas E. S. , Walz, Gerd , Tufro, Alda and Hildebrandt, Friedhelm
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in
FAT1
cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of
FAT1
results in decreased cell adhesion and...
Alternative Titles
Full title
FAT1 mutations cause a glomerulotubular nephropathy
Authors, Artists and Contributors
Author / Creator
Sadowski, Carolin E.
Aggarwal, Pardeep K.
Porath, Jonathan D.
Yakulov, Toma A.
Schueler, Markus
Lovric, Svjetlana
Ashraf, Shazia
Braun, Daniela A.
Halbritter, Jan
Fang, Humphrey
Airik, Rannar
Vega-Warner, Virginia
Cho, Kyeong Jee
Chan, Timothy A.
Morris, Luc G. T.
ffrench-Constant, Charles
Allen, Nicholas
McNeill, Helen
Büscher, Rainer
Kyrieleis, Henriette
Wallot, Michael
Gaspert, Ariana
Kistler, Thomas
Milford, David V.
Saleem, Moin A.
Keng, Wee Teik
Alexander, Stephen I.
Valentini, Rudolph P.
Licht, Christoph
Teh, Jun C.
Bogdanovic, Radovan
Koziell, Ania
Bierzynska, Agnieszka
Soliman, Neveen A.
Otto, Edgar A.
Lifton, Richard P.
Holzman, Lawrence B.
Sibinga, Nicholas E. S.
Walz, Gerd
Tufro, Alda
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_28d36207928640028a9a892d5c32fd4f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_28d36207928640028a9a892d5c32fd4f
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms10822
