genetic renal disease

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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Nina Mann, Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt, Svjetlana Lovric, Youying Mao, Shasha Shi, Weizhen Tan, Michael Kühl, Ana C. Onuchic-Whitford, Ernestine Treimer, Thomas M. Kitzler, Franziska Kause, Sven Schumann, Makiko Nakayama, Florian Buerger, Shirlee Shril, Amelie T. van der Ven, Amar J. Majmundar, Kristina Marie Holton, Amy Kolb, Daniela A. Braun, Jia Rao, Tilman Jobst-Schwan, Eva Mildenberger, Thomas Lennert, Alma Kuechler, Dagmar Wieczorek, Oliver Gross, Beate Ermisch-Omran, Anja Werberger, Martin Skalej, Andreas R. Janecke, Neveen A. Soliman, Shrikant M. Mane, Richard P. Lifton, Jan Kadlec, Ernesto Guccione, Michael J. Schmeisser, Martin Zenker and Friedhelm Hildebrandt

JASN March 2021, 32 (3) 580-596; DOI: https://doi.org/10.1681/ASN.2020040490

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Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium
Xuesi Wan, James Perry, Haichen Zhang, Feng Jin, Kathleen A. Ryan, Cristopher Van Hout, Jeffrey Reid, John Overton, Aris Baras, Zhe Han, Elizabeth Streeten, Yanbing Li, Braxton D. Mitchell, Alan R. Shuldiner, Mao Fu and on behalf of the Regeneron Genetics Center

JASN March 2021, 32 (3) 756-765; DOI: https://doi.org/10.1681/ASN.2020071030

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Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy
Hua Sun, Chandra Perez-Gill, Johannes S Schlöndorff, Balajikarthick Subramanian and Martin R. Pollak

JASN February 2021, 32 (2) 307-322; DOI: https://doi.org/10.1681/ASN.2020081109

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Exocyst Genes Are Essential for Recycling Membrane Proteins and Maintaining Slit Diaphragm in Drosophila Nephrocytes
Pei Wen, Fujian Zhang, Yulong Fu, Jun-yi Zhu and Zhe Han

JASN May 2020, 31 (5) 1024-1034; DOI: https://doi.org/10.1681/ASN.2019060591

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Erratum
JASN April 2020, 31 (4) 892; DOI: https://doi.org/10.1681/ASN.2020010083

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GSTM1 Deletion Exaggerates Kidney Injury in Experimental Mouse Models and Confers the Protective Effect of Cruciferous Vegetables in Mice and Humans
Joseph C. Gigliotti, Adrienne Tin, Shirin Pourafshar, Sylvia Cechova, Yves T. Wang, Sun-sang J. Sung, Gabor Bodonyi-Kovacs, Janet V. Cross, Guang Yang, Nhu Nguyen, Fang Chan, Casey Rebholz, Bing Yu, Megan L. Grove, Morgan E. Grams, Anna Köttgen, Robert Scharpf, Phillip Ruiz, Eric Boerwinkle, Josef Coresh and Thu H. Le

JASN January 2020, 31 (1) 102-116; DOI: https://doi.org/10.1681/ASN.2019050449

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TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome
Lina L. Kampf, Ronen Schneider, Lea Gerstner, Roland Thünauer, Mengmeng Chen, Martin Helmstädter, Ali Amar, Ana C. Onuchic-Whitford, Reyner Loza Munarriz, Afig Berdeli, Dominik Müller, Eva Schrezenmeier, Klemens Budde, Shrikant Mane, Kristen M. Laricchia, Heidi L. Rehm, Daniel G. MacArthur, Richard P. Lifton, Gerd Walz, Winfried Römer, Carsten Bergmann, Friedhelm Hildebrandt and Tobias Hermle

JASN December 2019, 30 (12) 2338-2353; DOI: https://doi.org/10.1681/ASN.2019040414

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APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore
Shrijal S. Shah, Herbert Lannon, Leny Dias, Jia-Yue Zhang, Seth L. Alper, Martin R. Pollak and David J. Friedman

JASN December 2019, 30 (12) 2355-2368; DOI: https://doi.org/10.1681/ASN.2019020114

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New Ways of Finding New Genes for Old Diseases
Richard N. Sandford

JASN November 2019, 30 (11) 2037-2039; DOI: https://doi.org/10.1681/ASN.2019090940

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Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
Rany M. Salem, Jennifer N. Todd, Niina Sandholm, Joanne B. Cole, Wei-Min Chen, Darrell Andrews, Marcus G. Pezzolesi, Paul M. McKeigue, Linda T. Hiraki, Chengxiang Qiu, Viji Nair, Chen Di Liao, Jing Jing Cao, Erkka Valo, Suna Onengut-Gumuscu, Adam M. Smiles, Stuart J. McGurnaghan, Jani K. Haukka, Valma Harjutsalo, Eoin P. Brennan, Natalie van Zuydam, Emma Ahlqvist, Ross Doyle, Tarunveer S. Ahluwalia, Maria Lajer, Maria F. Hughes, Jihwan Park, Jan Skupien, Athina Spiliopoulou, Andrew Liu, Rajasree Menon, Carine M. Boustany-Kari, Hyun M. Kang, Robert G. Nelson, Ronald Klein, Barbara E. Klein, Kristine E. Lee, Xiaoyu Gao, Michael Mauer, Silvia Maestroni, Maria Luiza Caramori, Ian H. de Boer, Rachel G. Miller, Jingchuan Guo, Andrew P. Boright, David Tregouet, Beata Gyorgy, Janet K. Snell-Bergeon, David M. Maahs, Shelley B. Bull, Angelo J. Canty, Colin N.A. Palmer, Lars Stechemesser, Bernhard Paulweber, Raimund Weitgasser, Jelizaveta Sokolovska, Vita Rovīte, Valdis Pīrāgs, Edita Prakapiene, Lina Radzeviciene, Rasa Verkauskiene, Nicolae Mircea Panduru, Leif C. Groop, Mark I. McCarthy, Harvest F. Gu, Anna Möllsten, Henrik Falhammar, Kerstin Brismar, Finian Martin, Peter Rossing, Tina Costacou, Gianpaolo Zerbini, Michel Marre, Samy Hadjadj, Amy J. McKnight, Carol Forsblom, Gareth McKay, Catherine Godson, A. Peter Maxwell, Matthias Kretzler, Katalin Susztak, Helen M. Colhoun, Andrzej Krolewski, Andrew D. Paterson, Per-Henrik Groop, Stephen S. Rich, Joel N. Hirschhorn, Jose C. Florez and SUMMIT Consortium, DCCT/EDIC Research Group, GENIE Consortium

JASN October 2019, 30 (10) 2000-2016; DOI: https://doi.org/10.1681/ASN.2019030218

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