Nature Communications (May 2018)
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
- 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
Affiliations
- Shazia Ashraf
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Hiroki Kudo
- Department of Pediatrics, Tohoku University School of Medicine
- Jia Rao
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Atsuo Kikuchi
- Department of Pediatrics, Tohoku University School of Medicine
- Eugen Widmeier
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Jennifer A. Lawson
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Weizhen Tan
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Tobias Hermle
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Jillian K. Warejko
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Shirlee Shril
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Merlin Airik
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Tilman Jobst-Schwan
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Svjetlana Lovric
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Daniela A. Braun
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Heon Yung Gee
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- David Schapiro
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Amar J. Majmundar
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Carolin E. Sadowski
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Werner L. Pabst
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Ankana Daga
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Amelie T. van der Ven
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Johanna M. Schmidt
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- Boon Chuan Low
- Department of Biological Sciences, National University of Singapore
- Anjali Bansal Gupta
- Mechanobiology Institute, National University of Singapore
- Brajendra K. Tripathi
- Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health
- Jenny Wong
- Division of Nephrology, Icahn School of Medicine at Mount Sinai
- Kirk Campbell
- Division of Nephrology, Icahn School of Medicine at Mount Sinai
- Kay Metcalfe
- Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre
- Denny Schanze
- Institute of Human Genetics, University Hospital Magdeburg
- Tetsuya Niihori
- Department of Medical Genetics, Tohoku University School of Medicine
- Hiroshi Kaito
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Kandai Nozu
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Hiroyasu Tsukaguchi
- 2nd Department of Internal Medicine, Kansai Medical University
- Ryojiro Tanaka
- Department of Nephrology, Hyogo Prefectural Kobe Children’s Hospital
- Kiyoshi Hamahira
- Department of Pediatrics, Himeji Red Cross Hospital
- Yasuko Kobayashi
- Department of Pediatrics, Gunma University Graduate School of Medicine
- Takumi Takizawa
- Department of Pediatrics, Gunma University Graduate School of Medicine
- Ryo Funayama
- Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine
- Keiko Nakayama
- Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine
- Yoko Aoki
- Department of Medical Genetics, Tohoku University School of Medicine
- Naonori Kumagai
- Department of Pediatrics, Tohoku University School of Medicine
- Kazumoto Iijima
- Department of Pediatrics, Kobe University Graduate School of Medicine
- Henry Fehrenbach
- Department of Pediatric Nephrology, Children’s Hospital
- Jameela A. Kari
- Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University
- Sherif El Desoky
- Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University
- Sawsan Jalalah
- Pathology Department, King Abdulaziz University
- Radovan Bogdanovic
- Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of Medicine
- Nataša Stajić
- Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of Medicine
- Hildegard Zappel
- Department for Paediatrics II, University of Göttingen
- Assel Rakhmetova
- Department of Nephrology, Asfendiyarov Kazakh National Medical University
- Sharon-Rose Wassmer
- Department of Nephrology, Luzerner Kantonsspital
- Therese Jungraithmayr
- Department of Pediatrics, University Medical Center Innsbruck
- Juergen Strehlau
- Department of Pediatric Nephrology, Hannover Medical School
- Aravind Selvin Kumar
- Department of Pediatric Nephrology and Medical Genetics, Institute of Child Health and Hospital for Children, TN Dr.M.G.R. Medical University
- Arvind Bagga
- Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences
- Neveen A. Soliman
- Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University
- Shrikant M. Mane
- Department of Genetics, Yale University School of Medicine
- Lewis Kaufman
- Division of Nephrology, Icahn School of Medicine at Mount Sinai
- Douglas R. Lowy
- Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health
- Mohamad A. Jairajpuri
- Department of Biosciences, Jamia Millia Islamia
- Richard P. Lifton
- Department of Genetics, Yale University School of Medicine
- York Pei
- Division of Nephrology, University Health Network, and University of Toronto
- Martin Zenker
- Institute of Human Genetics, University Hospital Magdeburg
- Shigeo Kure
- Department of Pediatrics, Tohoku University School of Medicine
- Friedhelm Hildebrandt
- Department of Medicine, Boston Children’s Hospital, Harvard Medical School
- DOI
- https://doi.org/10.1038/s41467-018-04193-w
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 14
Abstract
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.
