genetics and development

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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

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mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants
Ping Zhu, Qi Qiu, Peter C. Harris, Xiaolei Xu and Xueying Lin

JASN April 2021, 32 (4) 822-836; DOI: https://doi.org/10.1681/ASN.2020070991

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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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Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis
Veronica Arora, Suliman Khan, Ayman W. El-Hattab, Ratna Dua Puri, Maria Eugenia Rocha, Rijad Merdzanic, Omid Paknia, Christian Beetz, Arndt Rolfs, Aida M. Bertoli-Avella, Peter Bauer and Ishwar C. Verma

JASN January 2021, 32 (1) 223-228; DOI: https://doi.org/10.1681/ASN.2020040478

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Integration of GWAS Summary Statistics and Gene Expression Reveals Target Cell Types Underlying Kidney Function Traits
Yong Li, Stefan Haug, Pascal Schlosser, Alexander Teumer, Adrienne Tin, Cristian Pattaro, Anna Köttgen and Matthias Wuttke

JASN October 2020, 31 (10) 2326-2340; DOI: https://doi.org/10.1681/ASN.2020010051

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Pax2 and Pax8 Proteins Regulate Urea Transporters and Aquaporins to Control Urine Concentration in the Adult Kidney
Ann M. Laszczyk, Atsuko Y. Higashi, Sanjeevkumar R. Patel, Craig N. Johnson, Abdul Soofi, Saji Abraham and Gregory R. Dressler

JASN June 2020, 31 (6) 1212-1225; DOI: https://doi.org/10.1681/ASN.2019090962

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Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice
Theun de Groot, Lena K. Ebert, Birgitte Mønster Christensen, Karolina Andralojc, Lydie Cheval, Alain Doucet, Cungui Mao, Ruben Baumgarten, Benjamin E. Low, Roger Sandhoff, Michael V. Wiles, Peter M.T. Deen and Ron Korstanje

JASN December 2019, 30 (12) 2322-2336; DOI: https://doi.org/10.1681/ASN.2018050549

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Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
Rory J. Olson, Katharina Hopp, Harrison Wells, Jessica M. Smith, Jessica Furtado, Megan M. Constans, Diana L. Escobar, Aron M. Geurts, Vicente E. Torres and Peter C. Harris

JASN November 2019, 30 (11) 2113-2127; DOI: https://doi.org/10.1681/ASN.2019020150

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Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression
Tracy Nelson, Heino Velazquez, Nancy Troiano and Jackie A. Fretz

JASN September 2019, 30 (9) 1559-1572; DOI: https://doi.org/10.1681/ASN.2018070699

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Sprouty1 Controls Genitourinary Development via its N-Terminal Tyrosine
Marta Vaquero, Sara Cuesta, Carlos Anerillas, Gisela Altés, Joan Ribera, M. Albert Basson, Jonathan D. Licht, Joaquim Egea and Mario Encinas

JASN August 2019, 30 (8) 1398-1411; DOI: https://doi.org/10.1681/ASN.2018111085

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