human genetics

  • New Ways of Finding New Genes for Old Diseases
    Richard N. Sandford
    JASN October 2019, ASN.2019090940; DOI: https://doi.org/10.1681/ASN.2019090940
  • 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
  • <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 August 2019, ASN.2019030298; DOI: https://doi.org/10.1681/ASN.2019030298
  • 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
  • Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
    Nina Mann, Daniela A. Braun, Kassaundra Amann, Weizhen Tan, Shirlee Shril, Dervla M. Connaughton, Makiko Nakayama, Ronen Schneider, Thomas M. Kitzler, Amelie T. van der Ven, Jing Chen, Hadas Ityel, Asaf Vivante, Amar J. Majmundar, Ankana Daga, Jillian K. Warejko, Svjetlana Lovric, Shazia Ashraf, Tilman Jobst-Schwan, Eugen Widmeier, Hannah Hugo, Shrikant M. Mane, Leslie Spaneas, Michael J.G. Somers, Michael A. Ferguson, Avram Z. Traum, Deborah R. Stein, Michelle A. Baum, Ghaleb H. Daouk, Richard P. Lifton, Shannon Manzi, Khashayar Vakili, Heung Bae Kim, Nancy M. Rodig and Friedhelm Hildebrandt
    JASN February 2019, 30 (2) 201-215; DOI: https://doi.org/10.1681/ASN.2018060575
  • Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
    Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
    Fengxiao Bu, Yuzhou Zhang, Kai Wang, Nicolo Ghiringhelli Borsa, Michael B. Jones, Amanda O. Taylor, Erika Takanami, Nicole C. Meyer, Kathy Frees, Christie P. Thomas, Carla Nester and Richard J.H. Smith
    JASN December 2018, 29 (12) 2809-2819; DOI: https://doi.org/10.1681/ASN.2018070759
  • Genetic Variants Associated with Circulating Fibroblast Growth Factor 23
    Genetic Variants Associated with Circulating Fibroblast Growth Factor 23
    Cassianne Robinson-Cohen, Traci M. Bartz, Dongbing Lai, T. Alp Ikizler, Munro Peacock, Erik A. Imel, Erin D. Michos, Tatiana M. Foroud, Kristina Akesson, Kent D. Taylor, Linnea Malmgren, Kunihiro Matsushita, Maria Nethander, Joel Eriksson, Claes Ohlsson, Daniel Mellström, Myles Wolf, Osten Ljunggren, Fiona McGuigan, Jerome I. Rotter, Magnus Karlsson, Michael J. Econs, Joachim H. Ix, Pamela L. Lutsey, Bruce M. Psaty, Ian H. de Boer and Bryan R. Kestenbaum
    JASN October 2018, 29 (10) 2583-2592; DOI: https://doi.org/10.1681/ASN.2018020192

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