human genetics

  • Urine Uromodulin and Genetics of its Variation
    Nora Franceschini and Thu H. Le
    JASN March 2022, 33 (3) 461-462; DOI: https://doi.org/10.1681/ASN.2022010027
  • 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
  • Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease
    Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease
    Linus Butt, David Unnersjö-Jess, Martin Höhne, Robert Hahnfeldt, Dervla Reilly, Markus M. Rinschen, Ingo Plagmann, Paul Diefenhardt, Sebastian Brähler, Paul T. Brinkkötter, Hjalmar Brismar, Hans Blom, Bernhard Schermer and Thomas Benzing
    JASN January 2022, 33 (1) 138-154; DOI: https://doi.org/10.1681/ASN.2020060858
  • Alpha Globin Gene Copy Number Is Associated with Prevalent Chronic Kidney Disease and Incident End-Stage Kidney Disease among Black Americans
    Open Access
    Alpha Globin Gene Copy Number Is Associated with Prevalent Chronic Kidney Disease and Incident End-Stage Kidney Disease among Black Americans
    A. Parker Ruhl, Neal Jeffries, Yu Yang, Rakhi P. Naik, Amit Patki, Lydia H. Pecker, Bryan T. Mott, Neil A. Zakai, Cheryl A. Winkler, Jeffrey B. Kopp, Leslie A. Lange, Marguerite R. Irvin, Orlando M. Gutierrez, Mary Cushman and Hans C. Ackerman
    JASN January 2022, 33 (1) 213-224; DOI: https://doi.org/10.1681/ASN.2021050653
  • 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
  • Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
    Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
    Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, Atlas Khan, Sarah E. Graham, Maddalena Marasà, Hyunwoo Kim, Tze Y. Lim, Patricia L. Weng, Elena Sánchez-Rodríguez, Adele Mitrotti, Dina F. Ahram, Francesca Zanoni, David A. Fasel, Rik Westland, Matthew G. Sampson, Jun Y. Zhang, Monica Bodria, Byum Hee Kil, Shirlee Shril, Loreto Gesualdo, Fabio Torri, Francesco Scolari, Claudia Izzi, Joanna A.E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, David E. Barton, Mark G. Dobson, Prem Puri, Susan L. Furth, Bradley A. Warady, Isabella Pisani, Enrico Fiaccadori, Landino Allegri, Maria Ludovica Degl'Innocenti, Giorgio Piaggio, Shumyle Alam, Maddalena Gigante, Gianluigi Zaza, Pasquale Esposito, Fangming Lin, Ana Cristina Simões-e-Silva, Andrzej Brodkiewicz, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Maria Szczepanska, Piotr Adamczyk, Marcin Tkaczyk, Daria Tomczyk, Przemyslaw Sikora, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Vladimir J. Lozanovski, Zoran Gucev, Iuliana Ionita-Laza, Ian B. Stanaway, David R. Crosslin, Craig S. Wong, Friedhelm Hildebrandt, Jonathan Barasch, Eimear E. Kenny, Ruth J.F. Loos, Brynn Levy, Gian Marco Ghiggeri, Hakon Hakonarson, Anna Latos-Bieleńska, Anna Materna-Kiryluk, John M. Darlow, Velibor Tasic, Cristen Willer, Krzysztof Kiryluk, Simone Sanna-Cherchi, Cathy L. Mendelsohn and Ali G. Gharavi
    JASN April 2021, 32 (4) 805-820; DOI: https://doi.org/10.1681/ASN.2020050681
  • Interaction between <em>G</em><em>ALNT12</em> and <em>C1GALT1</em> Associates with Galactose-Deficient IgA1 and IgA Nephropathy
    Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy
    Yan-Na Wang, Xu-Jie Zhou, Pei Chen, Gui-Zhen Yu, Xue Zhang, Ping Hou, Li-Jun Liu, Su-Fang Shi, Ji-Cheng Lv and Hong Zhang
    JASN March 2021, 32 (3) 545-552; DOI: https://doi.org/10.1681/ASN.2020060823
  • Erratum
    JASN April 2020, 31 (4) 892; DOI: https://doi.org/10.1681/ASN.2020010083
  • 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
  • <em>ALG9</em> Mutation Carriers Develop Kidney and Liver Cysts
    ALG9 Mutation Carriers Develop Kidney and Liver Cysts
    Whitney Besse, Alex R. Chang, Jonathan Z. Luo, William J. Triffo, Bryn S. Moore, Ashima Gulati, Dustin N. Hartzel, Shrikant Mane, Regeneron Genetics Center, Vicente E. Torres, Stefan Somlo and Tooraj Mirshahi
    JASN November 2019, 30 (11) 2091-2102; DOI: https://doi.org/10.1681/ASN.2019030298

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