FAT1 mutations cause a glomerulotubular nephropathy

FAT1 mutations cause a glomerulotubular nephropathy

Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerul...

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Autores principales: Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2016
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Acceso en línea:https://doaj.org/article/28d36207928640028a9a892d5c32fd4f
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spelling oai:doaj.org-article:28d36207928640028a9a892d5c32fd4f2021-12-02T17:31:49ZFAT1 mutations cause a glomerulotubular nephropathy10.1038/ncomms108222041-1723https://doaj.org/article/28d36207928640028a9a892d5c32fd4f2016-02-01T00:00:00Zhttps://doi.org/10.1038/ncomms10822https://doaj.org/toc/2041-1723Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerular and tubular function and that FAT1 mutations can cause SRNS.Heon Yung GeeCarolin E. SadowskiPardeep K. AggarwalJonathan D. PorathToma A. YakulovMarkus SchuelerSvjetlana LovricShazia AshrafDaniela A. BraunJan HalbritterHumphrey FangRannar AirikVirginia Vega-WarnerKyeong Jee ChoTimothy A. ChanLuc G. T. MorrisCharles ffrench-ConstantNicholas AllenHelen McNeillRainer BüscherHenriette KyrieleisMichael WallotAriana GaspertThomas KistlerDavid V. MilfordMoin A. SaleemWee Teik KengStephen I. AlexanderRudolph P. ValentiniChristoph LichtJun C. TehRadovan BogdanovicAnia KoziellAgnieszka BierzynskaNeveen A. SolimanEdgar A. OttoRichard P. LiftonLawrence B. HolzmanNicholas E. S. SibingaGerd WalzAlda TufroFriedhelm HildebrandtNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Heon Yung Gee
Carolin E. Sadowski
Pardeep K. Aggarwal
Jonathan D. Porath
Toma A. Yakulov
Markus Schueler
Svjetlana Lovric
Shazia Ashraf
Daniela A. Braun
Jan Halbritter
Humphrey Fang
Rannar Airik
Virginia Vega-Warner
Kyeong Jee Cho
Timothy A. Chan
Luc G. T. Morris
Charles ffrench-Constant
Nicholas Allen
Helen McNeill
Rainer Büscher
Henriette Kyrieleis
Michael Wallot
Ariana Gaspert
Thomas Kistler
David V. Milford
Moin A. Saleem
Wee Teik Keng
Stephen I. Alexander
Rudolph P. Valentini
Christoph Licht
Jun C. Teh
Radovan Bogdanovic
Ania Koziell
Agnieszka Bierzynska
Neveen A. Soliman
Edgar A. Otto
Richard P. Lifton
Lawrence B. Holzman
Nicholas E. S. Sibinga
Gerd Walz
Alda Tufro
Friedhelm Hildebrandt
FAT1 mutations cause a glomerulotubular nephropathy
description Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerular and tubular function and that FAT1 mutations can cause SRNS.
format article
author Heon Yung Gee
Carolin E. Sadowski
Pardeep K. Aggarwal
Jonathan D. Porath
Toma A. Yakulov
Markus Schueler
Svjetlana Lovric
Shazia Ashraf
Daniela A. Braun
Jan Halbritter
Humphrey Fang
Rannar Airik
Virginia Vega-Warner
Kyeong Jee Cho
Timothy A. Chan
Luc G. T. Morris
Charles ffrench-Constant
Nicholas Allen
Helen McNeill
Rainer Büscher
Henriette Kyrieleis
Michael Wallot
Ariana Gaspert
Thomas Kistler
David V. Milford
Moin A. Saleem
Wee Teik Keng
Stephen I. Alexander
Rudolph P. Valentini
Christoph Licht
Jun C. Teh
Radovan Bogdanovic
Ania Koziell
Agnieszka Bierzynska
Neveen A. Soliman
Edgar A. Otto
Richard P. Lifton
Lawrence B. Holzman
Nicholas E. S. Sibinga
Gerd Walz
Alda Tufro
Friedhelm Hildebrandt
author_facet Heon Yung Gee
Carolin E. Sadowski
Pardeep K. Aggarwal
Jonathan D. Porath
Toma A. Yakulov
Markus Schueler
Svjetlana Lovric
Shazia Ashraf
Daniela A. Braun
Jan Halbritter
Humphrey Fang
Rannar Airik
Virginia Vega-Warner
Kyeong Jee Cho
Timothy A. Chan
Luc G. T. Morris
Charles ffrench-Constant
Nicholas Allen
Helen McNeill
Rainer Büscher
Henriette Kyrieleis
Michael Wallot
Ariana Gaspert
Thomas Kistler
David V. Milford
Moin A. Saleem
Wee Teik Keng
Stephen I. Alexander
Rudolph P. Valentini
Christoph Licht
Jun C. Teh
Radovan Bogdanovic
Ania Koziell
Agnieszka Bierzynska
Neveen A. Soliman
Edgar A. Otto
Richard P. Lifton
Lawrence B. Holzman
Nicholas E. S. Sibinga
Gerd Walz
Alda Tufro
Friedhelm Hildebrandt
author_sort Heon Yung Gee
title FAT1 mutations cause a glomerulotubular nephropathy
title_short FAT1 mutations cause a glomerulotubular nephropathy
title_full FAT1 mutations cause a glomerulotubular nephropathy
title_fullStr FAT1 mutations cause a glomerulotubular nephropathy
title_full_unstemmed FAT1 mutations cause a glomerulotubular nephropathy
title_sort fat1 mutations cause a glomerulotubular nephropathy
publisher Nature Portfolio
publishDate 2016
url https://doaj.org/article/28d36207928640028a9a892d5c32fd4f
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