Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syn...

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Autores principales:	Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. van der Ven, Johanna M. Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant M. Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad A. Jairajpuri, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/5fa7365ce28f4895a98f2773a190db3e
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spelling	oai:doaj.org-article:5fa7365ce28f4895a98f2773a190db3e2021-12-02T16:56:43ZMutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment10.1038/s41467-018-04193-w2041-1723https://doaj.org/article/5fa7365ce28f4895a98f2773a190db3e2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04193-whttps://doaj.org/toc/2041-1723Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syndrome.Shazia AshrafHiroki KudoJia RaoAtsuo KikuchiEugen WidmeierJennifer A. LawsonWeizhen TanTobias HermleJillian K. WarejkoShirlee ShrilMerlin AirikTilman Jobst-SchwanSvjetlana LovricDaniela A. BraunHeon Yung GeeDavid SchapiroAmar J. MajmundarCarolin E. SadowskiWerner L. PabstAnkana DagaAmelie T. van der VenJohanna M. SchmidtBoon Chuan LowAnjali Bansal GuptaBrajendra K. TripathiJenny WongKirk CampbellKay MetcalfeDenny SchanzeTetsuya NiihoriHiroshi KaitoKandai NozuHiroyasu TsukaguchiRyojiro TanakaKiyoshi HamahiraYasuko KobayashiTakumi TakizawaRyo FunayamaKeiko NakayamaYoko AokiNaonori KumagaiKazumoto IijimaHenry FehrenbachJameela A. KariSherif El DesokySawsan JalalahRadovan BogdanovicNataša StajićHildegard ZappelAssel RakhmetovaSharon-Rose WassmerTherese JungraithmayrJuergen StrehlauAravind Selvin KumarArvind BaggaNeveen A. SolimanShrikant M. ManeLewis KaufmanDouglas R. LowyMohamad A. JairajpuriRichard P. LiftonYork PeiMartin ZenkerShigeo KureFriedhelm HildebrandtNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Shazia Ashraf Hiroki Kudo Jia Rao Atsuo Kikuchi Eugen Widmeier Jennifer A. Lawson Weizhen Tan Tobias Hermle Jillian K. Warejko Shirlee Shril Merlin Airik Tilman Jobst-Schwan Svjetlana Lovric Daniela A. Braun Heon Yung Gee David Schapiro Amar J. Majmundar Carolin E. Sadowski Werner L. Pabst Ankana Daga Amelie T. van der Ven Johanna M. Schmidt Boon Chuan Low Anjali Bansal Gupta Brajendra K. Tripathi Jenny Wong Kirk Campbell Kay Metcalfe Denny Schanze Tetsuya Niihori Hiroshi Kaito Kandai Nozu Hiroyasu Tsukaguchi Ryojiro Tanaka Kiyoshi Hamahira Yasuko Kobayashi Takumi Takizawa Ryo Funayama Keiko Nakayama Yoko Aoki Naonori Kumagai Kazumoto Iijima Henry Fehrenbach Jameela A. Kari Sherif El Desoky Sawsan Jalalah Radovan Bogdanovic Nataša Stajić Hildegard Zappel Assel Rakhmetova Sharon-Rose Wassmer Therese Jungraithmayr Juergen Strehlau Aravind Selvin Kumar Arvind Bagga Neveen A. Soliman Shrikant M. Mane Lewis Kaufman Douglas R. Lowy Mohamad A. Jairajpuri Richard P. Lifton York Pei Martin Zenker Shigeo Kure Friedhelm Hildebrandt Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
description	Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syndrome.
format	article
author	Shazia Ashraf Hiroki Kudo Jia Rao Atsuo Kikuchi Eugen Widmeier Jennifer A. Lawson Weizhen Tan Tobias Hermle Jillian K. Warejko Shirlee Shril Merlin Airik Tilman Jobst-Schwan Svjetlana Lovric Daniela A. Braun Heon Yung Gee David Schapiro Amar J. Majmundar Carolin E. Sadowski Werner L. Pabst Ankana Daga Amelie T. van der Ven Johanna M. Schmidt Boon Chuan Low Anjali Bansal Gupta Brajendra K. Tripathi Jenny Wong Kirk Campbell Kay Metcalfe Denny Schanze Tetsuya Niihori Hiroshi Kaito Kandai Nozu Hiroyasu Tsukaguchi Ryojiro Tanaka Kiyoshi Hamahira Yasuko Kobayashi Takumi Takizawa Ryo Funayama Keiko Nakayama Yoko Aoki Naonori Kumagai Kazumoto Iijima Henry Fehrenbach Jameela A. Kari Sherif El Desoky Sawsan Jalalah Radovan Bogdanovic Nataša Stajić Hildegard Zappel Assel Rakhmetova Sharon-Rose Wassmer Therese Jungraithmayr Juergen Strehlau Aravind Selvin Kumar Arvind Bagga Neveen A. Soliman Shrikant M. Mane Lewis Kaufman Douglas R. Lowy Mohamad A. Jairajpuri Richard P. Lifton York Pei Martin Zenker Shigeo Kure Friedhelm Hildebrandt
author_facet	Shazia Ashraf Hiroki Kudo Jia Rao Atsuo Kikuchi Eugen Widmeier Jennifer A. Lawson Weizhen Tan Tobias Hermle Jillian K. Warejko Shirlee Shril Merlin Airik Tilman Jobst-Schwan Svjetlana Lovric Daniela A. Braun Heon Yung Gee David Schapiro Amar J. Majmundar Carolin E. Sadowski Werner L. Pabst Ankana Daga Amelie T. van der Ven Johanna M. Schmidt Boon Chuan Low Anjali Bansal Gupta Brajendra K. Tripathi Jenny Wong Kirk Campbell Kay Metcalfe Denny Schanze Tetsuya Niihori Hiroshi Kaito Kandai Nozu Hiroyasu Tsukaguchi Ryojiro Tanaka Kiyoshi Hamahira Yasuko Kobayashi Takumi Takizawa Ryo Funayama Keiko Nakayama Yoko Aoki Naonori Kumagai Kazumoto Iijima Henry Fehrenbach Jameela A. Kari Sherif El Desoky Sawsan Jalalah Radovan Bogdanovic Nataša Stajić Hildegard Zappel Assel Rakhmetova Sharon-Rose Wassmer Therese Jungraithmayr Juergen Strehlau Aravind Selvin Kumar Arvind Bagga Neveen A. Soliman Shrikant M. Mane Lewis Kaufman Douglas R. Lowy Mohamad A. Jairajpuri Richard P. Lifton York Pei Martin Zenker Shigeo Kure Friedhelm Hildebrandt
author_sort	Shazia Ashraf
title	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
title_short	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
title_full	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
title_fullStr	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
title_full_unstemmed	Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
title_sort	mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/5fa7365ce28f4895a98f2773a190db3e
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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

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