Details
Title
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Author
Ashraf, Shazia 1 ; Kudo, Hiroki 2 ; Rao, Jia 3 ; Kikuchi, Atsuo 2
; Widmeier, Eugen 3 ; Lawson, Jennifer A 3 ; Tan, Weizhen 3 ; Hermle, Tobias 3 ; Warejko, Jillian K 3 ; Shril, Shirlee 3 ; Airik, Merlin 3 ; Jobst-Schwan, Tilman 3 ; Lovric, Svjetlana 3 ; Braun, Daniela A 3 ; Gee, Heon Yung 4
; Schapiro, David 3 ; Majmundar, Amar J 3 ; Sadowski, Carolin E 3 ; Pabst, Werner L 3 ; Daga, Ankana 3 ; Amelie T van der Ven 3 ; Schmidt, Johanna M 3 ; Low, Boon Chuan 5 ; Anjali Bansal Gupta 6 ; Tripathi, Brajendra K 7 ; Wong, Jenny 8 ; Campbell, Kirk 8 ; Metcalfe, Kay 9 ; Schanze, Denny 10
; Niihori, Tetsuya 11 ; Kaito, Hiroshi 12 ; Nozu, Kandai 12 ; Tsukaguchi, Hiroyasu 13 ; Tanaka, Ryojiro 14
; Hamahira, Kiyoshi 15 ; Kobayashi, Yasuko 16 ; Takizawa, Takumi 17 ; Funayama, Ryo 18 ; Nakayama, Keiko 18 ; Aoki, Yoko 11 ; Kumagai, Naonori 2 ; Iijima, Kazumoto 12 ; Fehrenbach, Henry 19 ; Kari, Jameela A 20 ; Sherif El Desoky 20 ; Jalalah, Sawsan 21 ; Bogdanovic, Radovan 22 ; Stajić, Nataša 22 ; Zappel, Hildegard 23 ; Assel Rakhmetova 24 ; Sharon-Rose Wassmer 25 ; Jungraithmayr, Therese 26 ; Strehlau, Juergen 27 ; Aravind Selvin Kumar 28 ; Bagga, Arvind 29 ; Soliman, Neveen A 30 ; Mane, Shrikant M 31 ; Kaufman, Lewis 8 ; Lowy, Douglas R 7 ; Jairajpuri, Mohamad A 32 ; Lifton, Richard P 33 ; York, Pei 34 ; Zenker, Martin 10 ; Kure, Shigeo 2 ; Hildebrandt, Friedhelm 3
1 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Biosciences, Jamia Millia Islamia, New Delhi, India
2 Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
3 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
4 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea
5 Department of Biological Sciences, National University of Singapore, Singapore, Singapore; Mechanobiology Institute, National University of Singapore, Singapore, Singapore
6 Mechanobiology Institute, National University of Singapore, Singapore, Singapore
7 Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
8 Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
9 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
10 Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
11 Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
12 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
13 2nd Department of Internal Medicine, Kansai Medical University, Osaka, Japan
14 Department of Nephrology, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Hyogo, Japan
15 Department of Pediatrics, Himeji Red Cross Hospital, Himeji, Hyogo, Japan
16 Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan; Academic Renal Unit, School of Clinical Science, University of Bristol, Bristol, United Kingdom
17 Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan
18 Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
19 Department of Pediatric Nephrology, Children’s Hospital, Memmingen, Germany
20 Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia
21 Pathology Department, King Abdulaziz University, Jeddah, Saudi Arabia
22 Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia
23 Department for Paediatrics II, University of Göttingen, Göttingen, Germany
24 Department of Nephrology, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
25 Department of Nephrology, Luzerner Kantonsspital, Lucerne, Switzerland
26 Department of Pediatrics, University Medical Center Innsbruck, Innsbruck, Austria
27 Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany
28 Department of Pediatric Nephrology and Medical Genetics, Institute of Child Health and Hospital for Children, TN Dr.M.G.R. Medical University, Chennai, India
29 Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
30 Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt
31 Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
32 Department of Biosciences, Jamia Millia Islamia, New Delhi, India
33 Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA
34 Division of Nephrology, University Health Network, and University of Toronto, Toronto, ON, Canada
; Widmeier, Eugen 3 ; Lawson, Jennifer A 3 ; Tan, Weizhen 3 ; Hermle, Tobias 3 ; Warejko, Jillian K 3 ; Shril, Shirlee 3 ; Airik, Merlin 3 ; Jobst-Schwan, Tilman 3 ; Lovric, Svjetlana 3 ; Braun, Daniela A 3 ; Gee, Heon Yung 4
; Schapiro, David 3 ; Majmundar, Amar J 3 ; Sadowski, Carolin E 3 ; Pabst, Werner L 3 ; Daga, Ankana 3 ; Amelie T van der Ven 3 ; Schmidt, Johanna M 3 ; Low, Boon Chuan 5 ; Anjali Bansal Gupta 6 ; Tripathi, Brajendra K 7 ; Wong, Jenny 8 ; Campbell, Kirk 8 ; Metcalfe, Kay 9 ; Schanze, Denny 10
; Niihori, Tetsuya 11 ; Kaito, Hiroshi 12 ; Nozu, Kandai 12 ; Tsukaguchi, Hiroyasu 13 ; Tanaka, Ryojiro 14
; Hamahira, Kiyoshi 15 ; Kobayashi, Yasuko 16 ; Takizawa, Takumi 17 ; Funayama, Ryo 18 ; Nakayama, Keiko 18 ; Aoki, Yoko 11 ; Kumagai, Naonori 2 ; Iijima, Kazumoto 12 ; Fehrenbach, Henry 19 ; Kari, Jameela A 20 ; Sherif El Desoky 20 ; Jalalah, Sawsan 21 ; Bogdanovic, Radovan 22 ; Stajić, Nataša 22 ; Zappel, Hildegard 23 ; Assel Rakhmetova 24 ; Sharon-Rose Wassmer 25 ; Jungraithmayr, Therese 26 ; Strehlau, Juergen 27 ; Aravind Selvin Kumar 28 ; Bagga, Arvind 29 ; Soliman, Neveen A 30 ; Mane, Shrikant M 31 ; Kaufman, Lewis 8 ; Lowy, Douglas R 7 ; Jairajpuri, Mohamad A 32 ; Lifton, Richard P 33 ; York, Pei 34 ; Zenker, Martin 10 ; Kure, Shigeo 2 ; Hildebrandt, Friedhelm 3
1 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Biosciences, Jamia Millia Islamia, New Delhi, India
2 Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
3 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
4 Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea
5 Department of Biological Sciences, National University of Singapore, Singapore, Singapore; Mechanobiology Institute, National University of Singapore, Singapore, Singapore
6 Mechanobiology Institute, National University of Singapore, Singapore, Singapore
7 Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
8 Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY, USA
9 Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
10 Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany
11 Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan
12 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
13 2nd Department of Internal Medicine, Kansai Medical University, Osaka, Japan
14 Department of Nephrology, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Hyogo, Japan
15 Department of Pediatrics, Himeji Red Cross Hospital, Himeji, Hyogo, Japan
16 Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan; Academic Renal Unit, School of Clinical Science, University of Bristol, Bristol, United Kingdom
17 Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan
18 Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan
19 Department of Pediatric Nephrology, Children’s Hospital, Memmingen, Germany
20 Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia
21 Pathology Department, King Abdulaziz University, Jeddah, Saudi Arabia
22 Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia
23 Department for Paediatrics II, University of Göttingen, Göttingen, Germany
24 Department of Nephrology, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan
25 Department of Nephrology, Luzerner Kantonsspital, Lucerne, Switzerland
26 Department of Pediatrics, University Medical Center Innsbruck, Innsbruck, Austria
27 Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany
28 Department of Pediatric Nephrology and Medical Genetics, Institute of Child Health and Hospital for Children, TN Dr.M.G.R. Medical University, Chennai, India
29 Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
30 Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt
31 Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
32 Department of Biosciences, Jamia Millia Islamia, New Delhi, India
33 Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA
34 Division of Nephrology, University Health Network, and University of Toronto, Toronto, ON, Canada
Pages
1-14
Publication year
2018
Publication date
May 2018
e-ISSN
20411723
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2040742607
Copyright
© 2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.