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Basic Research
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A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, the SRNS Study Group and Friedhelm Hildebrandt
JASN June 2015, 26 (6) 1279-1289; DOI: https://doi.org/10.1681/ASN.2014050489
Carolin E. Sadowski
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Svjetlana Lovric
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Shazia Ashraf
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Werner L. Pabst
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Heon Yung Gee
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Stefan Kohl
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Susanne Engelmann
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Virginia Vega-Warner
†Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;
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Humphrey Fang
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Jan Halbritter
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Michael J. Somers
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Weizhen Tan
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Shirlee Shril
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Inès Fessi
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
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Richard P. Lifton
‡Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut;
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Detlef Bockenhauer
§Institute of Child Health, University College London, London, United Kingdom;
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Sherif El-Desoky
‖Pediatric Nephrology Unit, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia;
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Jameela A. Kari
‖Pediatric Nephrology Unit, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia;
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Martin Zenker
¶Department of Human Genetics, Otto von Guericke University, Magdeburg, Germany;
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Markus J. Kemper
**Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany;
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Dominik Mueller
††Department of Pediatric Nephrology, Medical Faculty of the Charité, Berlin, Germany;
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Hanan M. Fathy
‡‡The Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt;
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Neveen A. Soliman
§§Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt;
‖‖Egyptian Group for Orphan Renal Diseases, Cairo, Egypt; and
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Friedhelm Hildebrandt
*Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
¶¶Howard Hughes Medical Institute, Chevy Chase, Maryland
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Article Information

vol. 26 no. 6 1279-1289
DOI 
https://doi.org/10.1681/ASN.2014050489
PubMed 
25349199

Published By 
American Society of Nephrology
Print ISSN 
1046-6673
Online ISSN 
1533-3450
History 
  • Received for publication May 19, 2014
  • Accepted for publication September 10, 2014
  • Published online May 29, 2015.

Article Versions

  • Earlier version (October 27, 2014 - 08:53).
  • You are viewing the most recent version of this article.
Copyright & Usage 
Copyright © 2015 by the American Society of Nephrology

Author Information

  1. Carolin E. Sadowski*,
  2. Svjetlana Lovric*,
  3. Shazia Ashraf*,
  4. Werner L. Pabst*,
  5. Heon Yung Gee*,
  6. Stefan Kohl*,
  7. Susanne Engelmann*,
  8. Virginia Vega-Warner†,
  9. Humphrey Fang*,
  10. Jan Halbritter*,
  11. Michael J. Somers*,
  12. Weizhen Tan*,
  13. Shirlee Shril*,
  14. Inès Fessi*,
  15. Richard P. Lifton‡,
  16. Detlef Bockenhauer§,
  17. Sherif El-Desoky‖,
  18. Jameela A. Kari‖,
  19. Martin Zenker¶,
  20. Markus J. Kemper**,
  21. Dominik Mueller††,
  22. Hanan M. Fathy‡‡,
  23. Neveen A. Soliman§§‖‖,
  24. the SRNS Study Group and
  25. Friedhelm Hildebrandt*¶¶
  1. *Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts;
  2. †Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;
  3. ‡Department of Genetics and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut;
  4. §Institute of Child Health, University College London, London, United Kingdom;
  5. ‖Pediatric Nephrology Unit, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia;
  6. ¶Department of Human Genetics, Otto von Guericke University, Magdeburg, Germany;
  7. **Department of Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany;
  8. ††Department of Pediatric Nephrology, Medical Faculty of the Charité, Berlin, Germany;
  9. ‡‡The Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt;
  10. §§Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt;
  11. ‖‖Egyptian Group for Orphan Renal Diseases, Cairo, Egypt; and
  12. ¶¶Howard Hughes Medical Institute, Chevy Chase, Maryland
  1. Correspondence:
    Dr. Friedhelm Hildebrandt, Howard Hughes Medical Institute, Division of Nephrology, Department of Medicine, Boston Children’s Hospital, 300 Longwood Avenue, Enders 561, Boston, MA 02115. Email: friedhelm.hildebrandt{at}childrens.harvard.edu

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Journal of the American Society of Nephrology: 26 (6)
Journal of the American Society of Nephrology
Vol. 26, Issue 6
June 2015
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A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, the SRNS Study Group, Friedhelm Hildebrandt
JASN Jun 2015, 26 (6) 1279-1289; DOI: 10.1681/ASN.2014050489

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A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, the SRNS Study Group, Friedhelm Hildebrandt
JASN Jun 2015, 26 (6) 1279-1289; DOI: 10.1681/ASN.2014050489
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