human genetics

  • 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
  • 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 February 2021, ASN.2020050681; DOI: https://doi.org/10.1681/ASN.2020050681
  • 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
  • Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen
    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
  • Contributions of Rare Gene Variants to Familial and Sporadic FSGS
    Contributions of Rare Gene Variants to Familial and Sporadic FSGS
    Minxian Wang, Justin Chun, Giulio Genovese, Andrea U. Knob, Ava Benjamin, Maris S. Wilkins, David J. Friedman, Gerald B. Appel, Richard P. Lifton, Shrikant Mane and Martin R. Pollak
    JASN September 2019, 30 (9) 1625-1640; DOI: https://doi.org/10.1681/ASN.2019020152
  • Exome-Based Rare-Variant Analyses in CKD
    Exome-Based Rare-Variant Analyses in CKD
    Sophia Cameron-Christie, Charles J. Wolock, Emily Groopman, Slavé Petrovski, Sitharthan Kamalakaran, Gundula Povysil, Dimitrios Vitsios, Mengqi Zhang, Jan Fleckner, Ruth E. March, Sahar Gelfman, Maddalena Marasa, Yifu Li, Simone Sanna-Cherchi, Krzysztof Kiryluk, Andrew S. Allen, Bengt C. Fellström, Carolina Haefliger, Adam Platt, David B. Goldstein and Ali G. Gharavi
    JASN June 2019, 30 (6) 1109-1122; DOI: https://doi.org/10.1681/ASN.2018090909
  • Mutations in <em>NUP160</em> Are Implicated in Steroid-Resistant Nephrotic Syndrome
    Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome
    Feng Zhao, Jun-yi Zhu, Adam Richman, Yulong Fu, Wen Huang, Nan Chen, Xiaoxia Pan, Cuili Yi, Xiaohua Ding, Si Wang, Ping Wang, Xiaojing Nie, Jun Huang, Yonghui Yang, Zihua Yu and Zhe Han
    JASN May 2019, 30 (5) 840-853; DOI: https://doi.org/10.1681/ASN.2018080786
  • Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population
    Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population
    Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Masayuki Usami, Atsushi Takahashi, Yukihide Momozawa, Kichiya Suzuki, Soichi Ogishima, Atsushi Shimizu, Mamoru Satoh, Keitaro Matsuo, Haruo Mikami, Mariko Naito, Kenji Wakai, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Shoichiro Tsugane, Kenjiro Kohri, Alan S.L. Yu, Takahiro Yasui, Yoshinori Murakami, Michiaki Kubo and Koichi Matsuda
    JASN May 2019, 30 (5) 855-864; DOI: https://doi.org/10.1681/ASN.2018090942

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