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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Main Authors:	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
Format:	Article
Language:	English
Published:	Nature Publishing Group 2018-05-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-018-04193-w

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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
spellingShingle	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 Nature Communications
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 Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2018-05-01
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.
url	https://doi.org/10.1038/s41467-018-04193-w
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spelling	doaj-5fa7365ce28f4895a98f2773a190db3e2021-05-11T10:23:57ZengNature Publishing GroupNature Communications2041-17232018-05-019111410.1038/s41467-018-04193-wMutations in six nephrosis genes delineate a pathogenic pathway amenable to treatmentShazia Ashraf0Hiroki Kudo1Jia Rao2Atsuo Kikuchi3Eugen Widmeier4Jennifer A. Lawson5Weizhen Tan6Tobias Hermle7Jillian K. Warejko8Shirlee Shril9Merlin Airik10Tilman Jobst-Schwan11Svjetlana Lovric12Daniela A. Braun13Heon Yung Gee14David Schapiro15Amar J. Majmundar16Carolin E. Sadowski17Werner L. Pabst18Ankana Daga19Amelie T. van der Ven20Johanna M. Schmidt21Boon Chuan Low22Anjali Bansal Gupta23Brajendra K. Tripathi24Jenny Wong25Kirk Campbell26Kay Metcalfe27Denny Schanze28Tetsuya Niihori29Hiroshi Kaito30Kandai Nozu31Hiroyasu Tsukaguchi32Ryojiro Tanaka33Kiyoshi Hamahira34Yasuko Kobayashi35Takumi Takizawa36Ryo Funayama37Keiko Nakayama38Yoko Aoki39Naonori Kumagai40Kazumoto Iijima41Henry Fehrenbach42Jameela A. Kari43Sherif El Desoky44Sawsan Jalalah45Radovan Bogdanovic46Nataša Stajić47Hildegard Zappel48Assel Rakhmetova49Sharon-Rose Wassmer50Therese Jungraithmayr51Juergen Strehlau52Aravind Selvin Kumar53Arvind Bagga54Neveen A. Soliman55Shrikant M. Mane56Lewis Kaufman57Douglas R. Lowy58Mohamad A. Jairajpuri59Richard P. Lifton60York Pei61Martin Zenker62Shigeo Kure63Friedhelm Hildebrandt64Department of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Pediatrics, Tohoku University School of MedicineDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Pediatrics, Tohoku University School of MedicineDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolDepartment of Biological Sciences, National University of SingaporeMechanobiology Institute, National University of SingaporeLaboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of HealthDivision of Nephrology, Icahn School of Medicine at Mount SinaiDivision of Nephrology, Icahn School of Medicine at Mount SinaiManchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science CentreInstitute of Human Genetics, University Hospital MagdeburgDepartment of Medical Genetics, Tohoku University School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatrics, Kobe University Graduate School of Medicine2nd Department of Internal Medicine, Kansai Medical UniversityDepartment of Nephrology, Hyogo Prefectural Kobe Children’s HospitalDepartment of Pediatrics, Himeji Red Cross HospitalDepartment of Pediatrics, Gunma University Graduate School of MedicineDepartment of Pediatrics, Gunma University Graduate School of MedicineDivision of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of MedicineDivision of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of MedicineDepartment of Medical Genetics, Tohoku University School of MedicineDepartment of Pediatrics, Tohoku University School of MedicineDepartment of Pediatrics, Kobe University Graduate School of MedicineDepartment of Pediatric Nephrology, Children’s HospitalPediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz UniversityPediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz UniversityPathology Department, King Abdulaziz UniversityInstitute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of MedicineInstitute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of MedicineDepartment for Paediatrics II, University of GöttingenDepartment of Nephrology, Asfendiyarov Kazakh National Medical UniversityDepartment of Nephrology, Luzerner KantonsspitalDepartment of Pediatrics, University Medical Center InnsbruckDepartment of Pediatric Nephrology, Hannover Medical SchoolDepartment of Pediatric Nephrology and Medical Genetics, Institute of Child Health and Hospital for Children, TN Dr.M.G.R. Medical UniversityDivision of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical SciencesDepartment of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo UniversityDepartment of Genetics, Yale University School of MedicineDivision of Nephrology, Icahn School of Medicine at Mount SinaiLaboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of HealthDepartment of Biosciences, Jamia Millia IslamiaDepartment of Genetics, Yale University School of MedicineDivision of Nephrology, University Health Network, and University of TorontoInstitute of Human Genetics, University Hospital MagdeburgDepartment of Pediatrics, Tohoku University School of MedicineDepartment of Medicine, Boston Children’s Hospital, Harvard Medical SchoolNephrotic 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.https://doi.org/10.1038/s41467-018-04193-w

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

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