genetic renal disease

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A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
Mahdi Salih, Ivan Gautschi, Miguel X. van Bemmelen, Michael Di Benedetto, Alice S. Brooks, Dorien Lugtenberg, Laurent Schild and Ewout J. Hoorn

JASN November 2017, 28 (11) 3291-3299; DOI: https://doi.org/10.1681/ASN.2016111163

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Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract
Laurence Heidet, Vincent Morinière, Charline Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bole-Feysot, Patrick Nitschké, Frédéric Tores, Marc Bras, Marc Jeanpierre, Christine Pietrement, Dominique Gaillard, Marie Gonzales, Robert Novo, Elise Schaefer, Joëlle Roume, Jelena Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac and Cécile Jeanpierre

JASN October 2017, 28 (10) 2901-2914; DOI: https://doi.org/10.1681/ASN.2017010043

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A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q₁₀ Supplementation
Jun-yi Zhu, Yulong Fu, Adam Richman, Zhanzheng Zhao, Patricio E. Ray and Zhe Han

JASN September 2017, 28 (9) 2607-2617; DOI: https://doi.org/10.1681/ASN.2016060626

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Sickle Cell Trait and the Risk of ESRD in Blacks
Rakhi P. Naik, Marguerite R. Irvin, Suzanne Judd, Orlando M. Gutiérrez, Neil A. Zakai, Vimal K. Derebail, Carmen Peralta, Michael R. Lewis, Degui Zhi, Donna Arnett, William McClellan, James G. Wilson, Alexander P. Reiner, Jeffrey B. Kopp, Cheryl A. Winkler and Mary Cushman

JASN July 2017, 28 (7) 2180-2187; DOI: https://doi.org/10.1681/ASN.2016101086

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Intercalated Cell Depletion and Vacuolar H⁺-ATPase Mistargeting in an Ae1 R607H Knockin Model
Rizwan Mumtaz, Francesco Trepiccione, J. Christopher Hennings, Antje K. Huebner, Bettina Serbin, Nicolas Picard, A. K. M. Shahid Ullah, Teodor G. Păunescu, Diane E. Capen, Rawad M. Lashhab, Isabelle Mouro-Chanteloup, Seth L. Alper, Carsten A. Wagner, Emmanuelle Cordat, Dennis Brown, Dominique Eladari and Christian A. Hübner

JASN May 2017, 28 (5) 1507-1520; DOI: https://doi.org/10.1681/ASN.2016020169

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MAGI2 Mutations Cause Congenital Nephrotic Syndrome
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D. Inward, Hugh J. McCarthy, Michael A. Simpson, Graham M. Lord, Maggie Williams, Gavin I. Welsh, Ania B. Koziell and Moin A. Saleem

JASN May 2017, 28 (5) 1614-1621; DOI: https://doi.org/10.1681/ASN.2016040387

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APOL1-G1 in Nephrocytes Induces Hypertrophy and Accelerates Cell Death
Yulong Fu, Jun-yi Zhu, Adam Richman, Yi Zhang, Xuefang Xie, Jharna R. Das, Jinliang Li, Patricio E. Ray and Zhe Han

JASN April 2017, 28 (4) 1106-1116; DOI: https://doi.org/10.1681/ASN.2016050550

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Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis
John A. Sayer

JASN March 2017, 28 (3) 748-759; DOI: https://doi.org/10.1681/ASN.2016050576

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Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome
Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner and Philip L. Beales

JASN March 2017, 28 (3) 963-970; DOI: https://doi.org/10.1681/ASN.2015091029

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A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis
Rannar Airik, Markus Schueler, Merlin Airik, Jang Cho, Jonathan D. Porath, Elina Mukherjee, Sunder Sims-Lucas and Friedhelm Hildebrandt

JASN December 2016, 27 (12) 3552-3559; DOI: https://doi.org/10.1681/ASN.2015101108

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