genetic renal disease

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A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS
Brandon M. Lane, Susan Murray, Katherine Benson, Agnieszka Bierzynska, Megan Chryst-Stangl, Liming Wang, Guanghong Wu, Gianpiero Cavalleri, Brendan Doyle, Neil Fennelly, Anthony Dorman, Shane Conlon, Virginia Vega-Warner, Damian Fermin, Poornima Vijayan, Mohammad Azfar Qureshi, Shirlee Shril, Moumita Barua, Friedhelm Hildebrandt, Martin Pollak, David Howell, Matthew G. Sampson, Moin Saleem, Peter J. Conlon, Robert Spurney and Rasheed Gbadegesin

JASN April 2021, ASN.2020081234; DOI: https://doi.org/10.1681/ASN.2020081234

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Diagnosis, Education, and Care of Patients with APOL1-Associated Nephropathy: A Delphi Consensus and Systematic Review
Barry I. Freedman, Wylie Burke, Jasmin Divers, Lucy Eberhard, Crystal A. Gadegbeku, Rasheed Gbadegesin, Michael E. Hall, Tiffany Jones-Smith, Richard Knight, Jeffrey B. Kopp, Csaba P. Kovesdy, Keith C. Norris, Opeyemi A. Olabisi, Glenda V. Roberts, John R. Sedor and Erika Blacksher

JASN April 2021, ASN.2020101399; DOI: https://doi.org/10.1681/ASN.2020101399

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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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