Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a “podocytopathy.” Methods: We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients. Results:...

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Main Authors: Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Tobias Hermle, Ana C. Onuchic-Whitford, Wei Zhou, Nandini Nagarajan Margam, Roy Duncan, Jonathan Marquez, Mustafa Khokha, Hanan M. Fathy, Jameela A. Kari, Sherif El Desoky, Loai A. Eid, Hazem Subhi Awad, Muna Al-Saffar, Shrikant Mane, Richard P. Lifton, Dieter O. Fürst, Shirlee Shril, Friedhelm Hildebrandt
Format: Article
Language:English
Published: Elsevier 2021-02-01
Series:Kidney International Reports
Subjects:
monogenic kidney disease
nephrotic syndrome
SYNPO2
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024920317113

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http://www.sciencedirect.com/science/article/pii/S2468024920317113

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