genetics and development

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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 October 2020, ASN.2020040478; 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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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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Protein Kinase 2β Is Expressed in Neural Crest-Derived Urinary Pacemaker Cells and Required for Pyeloureteric Contraction
Samir M. Iskander, Meghan M. Feeney, Kirby Yee and Norman D. Rosenblum

JASN April 2018, 29 (4) 1198-1209; DOI: https://doi.org/10.1681/ASN.2017090951

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The Era of Human Developmental Nephrology
Ryuichi Nishinakamura

JASN March 2018, 29 (3) 705-706; DOI: https://doi.org/10.1681/ASN.2017121280

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