genetic renal disease

  • Factor H–Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy
    Factor H–Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy
    Bárbara Márquez-Tirado, Josué Gutiérrez-Tenorio, Agustín Tortajada, Laura Lucientes Continente, Fernando Caravaca-Fontán, Talat H. Malik, Raquel Roldán Montero, Sandra Elías, Ana Saiz Gonzalez, Gema Fernández-Juarez, Pilar Sánchez-Corral, Matthew C. Pickering, Manuel Praga, Santiago Rodríguez de Córdoba and Elena Goicoechea de Jorge
    JASN May 2022, ASN.2021101318; DOI: https://doi.org/10.1681/ASN.2021101318
  • A Founder Mutation in <em>EHD1</em> Presents with Tubular Proteinuria and Deafness
    A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness
    Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai and Richard Warth
    JASN April 2022, 33 (4) 732-745; DOI: https://doi.org/10.1681/ASN.2021101312
  • Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA
    Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA
    Daan Viering, Karl P. Schlingmann, Marguerite Hureaux, Tom Nijenhuis, Andrew Mallett, Melanie M.Y. Chan, André van Beek, Albertien M. van Eerde, Jean-Marie Coulibaly, Marion Vallet, Stéphane Decramer, Solenne Pelletier, Günter Klaus, Martin Kömhoff, Rolf Beetz, Chirag Patel, Mohan Shenoy, Eric J. Steenbergen, Glenn Anderson, Ernie M.H.F. Bongers, Carsten Bergmann, Daan Panneman, Richard J. Rodenburg, Robert Kleta, Pascal Houillier, Martin Konrad, Rosa Vargas-Poussou, Nine V.A.M. Knoers, Detlef Bockenhauer, Jeroen H.F. de Baaij and the Genomics England Research Consortium
    JASN February 2022, 33 (2) 305-325; DOI: https://doi.org/10.1681/ASN.2021050596
  • Detection of <em>PKD1</em> and <em>PKD2</em> Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
    Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing
    Zhengmao Zhang, Hanwen Bai, Jon Blumenfeld, Andrew B. Ramnauth, Irina Barash, Martin Prince, Adrian Y. Tan, Alber Michaeel, Genyan Liu, Ines Chicos, Lior Rennert, Stavros Giannakopoulos, Karen Larbi, Stuart Hughes, Steven P. Salvatore, Brian D. Robinson, Sandip Kapur and Hanna Rennert
    JASN December 2021, 32 (12) 3114-3129; DOI: https://doi.org/10.1681/ASN.2021050690
  • mTOR-Activating Mutations in <em>RRAGD</em> Are Causative for Kidney Tubulopathy and Cardiomyopathy
    mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
    Karl P. Schlingmann, François Jouret, Kuang Shen, Anukrati Nigam, Francisco J. Arjona, Claudia Dafinger, Pascal Houillier, Deborah P. Jones, Felix Kleinerüschkamp, Jun Oh, Nathalie Godefroid, Mehmet Eltan, Tülay Güran, Stéphane Burtey, Marie-Christine Parotte, Jens König, Alina Braun, Caro Bos, Maria Ibars Serra, Holger Rehmann, Fried J.T. Zwartkruis, Kirsten Y. Renkema, Karin Klingel, Eric Schulze-Bahr, Bernhard Schermer, Carsten Bergmann, Janine Altmüller, Holger Thiele, Bodo B. Beck, Karin Dahan, David Sabatini, Max C. Liebau, Rosa Vargas-Poussou, Nine V.A.M. Knoers, Martin Konrad and Jeroen H.F. de Baaij
    JASN November 2021, 32 (11) 2885-2899; DOI: https://doi.org/10.1681/ASN.2021030333
  • Urine APOL1 Isoforms Reflect Plasma-Derived Liver-Synthesized Proteins
    Urine APOL1 Isoforms Reflect Plasma-Derived Liver-Synthesized Proteins
    Magnus Althage, Timothy M. Heinrich, Tasso Miliotis, Anna Bogstedt, Lijun Ma, Michael D. Gautreaux, Pamela J. Hicks, Nicholette D. Palmer, Iain MacPhee, Judith Hartleib-Geschwindner, Peter J. Greasley and Barry I. Freedman
    JASN October 2021, 32 (10) 2442-2444; DOI: https://doi.org/10.1681/ASN.2021030411
  • Prevalence Estimates of Predicted Pathogenic <em>COL4A3–COL4A5</em> Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
    Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
    Joel Gibson, Rachel Fieldhouse, Melanie M.Y. Chan, Omid Sadeghi-Alavijeh, Leslie Burnett, Valerio Izzi, Anton V. Persikov, Daniel P. Gale, Helen Storey, Judy Savige and on behalf of the Genomics England Research Consortium
    JASN September 2021, 32 (9) 2273-2290; DOI: https://doi.org/10.1681/ASN.2020071065
  • A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (<em>RCAN1</em>) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS
    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 July 2021, 32 (7) 1682-1695; DOI: https://doi.org/10.1681/ASN.2020081234
  • Diagnosis, Education, and Care of Patients with <em>APOL1</em>-Associated Nephropathy: A Delphi Consensus and Systematic Review
    Open Access
    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 July 2021, 32 (7) 1765-1778; DOI: https://doi.org/10.1681/ASN.2020101399
  • Mutations in <em>PRDM15</em> Are a Novel Cause of Galloway-Mowat Syndrome
    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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