APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant by Rasheed Gbadegesin, Elena Martinelli, Yask Gupta, David J. Friedman, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

Get full text

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature by Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z

Get full text

Impact of diet and host genetics on the murine intestinal mycobiome by Yask Gupta, Anna Lara Ernst, Artem Vorobyev, Foteini Beltsiou, Detlef Zillikens, Katja Bieber, Simone Sanna-Cherchi, Angela M. Christiano, Christian D. Sadik, Ralf J. Ludwig, Tanya Sezin

Get full text

FSGS Recurrence Collaboration: Report of a symposium by Debbie S. Gipson, Chia-shi Wang, Eloise Salmon, Rasheed Gbadegesin, Abhijit Naik, Simone Sanna-Cherchi, Alessia Fornoni, Matthias Kretzler, Sandra Merscher, Paul Hoover, Kelley Kidwell, Moin Saleem, Leonardo Riella, Lawrence Holzman, Annette Jackson, Opeyemi Olabisi, Paolo Cravedi, Benjamin Solomon Freedman, Jonathan Himmelfarb, Marina Vivarelli, Jennifer Harder, Jon Klein, George Burke, Michelle Rheault, Cathie Spino, Hailey E. Desmond, Howard Trachtman

Get full text

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract by Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt

Get full text

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome by Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

Get full text

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease by Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

Get full text

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Get full text

Longitudinal Changes in Health-Related Quality of Life in Primary Glomerular Disease: Results From the CureGN Study by Shannon L. Murphy, John D. Mahan, Jonathan P. Troost, Tarak Srivastava, Amy J. Kogon, Yi Cai, T. Keefe Davis, Hilda Fernandez, Alessia Fornoni, Rasheed A. Gbadegesin, Emily Herreshoff, Pietro A. Canetta, Patrick H. Nachman, Bryce B. Reeve, David T. Selewski, Christine B. Sethna, Chia-shi Wang, Sharon M. Bartosh, Debbie S. Gipson, Katherine R. Tuttle, Ali Gharavi, Wooin Ahn, Gerald B. Appel, Rupali S. Avasare, Revekka Babayev, Ibrahim Batal, Andrew S. Bomback, Eric Brown, Eric S. Campenot, Pietro Canetta, Brenda Chan, Vivette D. D’Agati, Hilda Fernandez, Bartosz Foroncewicz, Gian Marco Ghiggeri, William H. Hines, Namrata G. Jain, Krzysztof Kiryluk, Fangming Lin, Francesca Lugani, Maddalena Marasa, Glen Markowitz, Sumit Mohan, Krzysztof Mucha, Thomas L. Nickolas, Jai Radhakrishnan, Maya K. Rao, Renu Regunathan-Shenk, Simone Sanna-Cherchi, Dominick Santoriello, Michael B. Stokes, Natalie Yu, Anthony M. Valeri, Ronald Zviti, Larry A. Greenbaum, William E. Smoyer, Amira Al-Uzri, Isa Ashoor, Diego Aviles, Rossana Baracco, John Barcia, Sharon Bartosh, Craig Belsha, Michael C. Braun, Aftab Chishti, Donna Claes, Carl Cramer, Keefe Davis, Elif Erkan, Daniel Feig, Michael Freundlich, Melisha Hanna, Guillermo Hidalgo, Amrish Jain, Myda Khalid, Mahmoud Kallash, MD, Jerome C. Lane, John Mahan, Nisha Mathews, Carla Nester, Cynthia Pan, Hiren Patel, Adelaide Revell, Rajasree Sreedharan, Julia Steinke, Scott E. Wenderfer, Craig S. Wong, Ronald Falk, William Cook, Vimal Derebail, Agnes Fogo, Adil Gasim, Todd Gehr, Raymond Harris, Jason Kidd, Louis-Philippe Laurin, Will Pendergraft, Vincent Pichette, Thomas Brian Powell, Matthew B. Renfrow, Virginie Royal, Lawrence B. Holzman, Sharon Adler, Charles Alpers, Raed Bou Matar, Elizabeth Brown, Michael Choi, Katherine M. Dell, Ram Dukkipati, Fernando C. Fervenza, Alessia Fornoni, Crystal Gadegbeku, Patrick Gipson, Leah Hasely, Sangeeta Hingorani, Michelle A. Hladunewich, Jonathan Hogan, J. Ashley Jefferson, Kenar Jhaveri, Duncan B. Johnstone, Frederick Kaskel, Amy Kogan, Jeffrey Kopp, Kevin V. Lemley, Laura Malaga- Dieguez, Kevin Meyers, Alicia Neu, Michelle Marie O'Shaughnessy, John F. O’Toole, Rulan Parekh, Heather Reich, Kimberly Reidy, Helbert Rondon, Kamalanathan K. Sambandam, John R. Sedor, David T. Selewski, Christine B. Sethna, Jeffrey Schelling, John C. Sperati, Agnes Swiatecka-Urban, Howard Trachtman, Katherine R. Tuttle, Joseph Weisstuch, Olga Zhdanova, Brenda Gillespie, Debbie S. Gipson, Emily Herreshoff, Matthias Kretzler, Bruce M. Robinson, Laura Mariani, Jonathan P. Troost, Matthew Wladkowski, Lisa M. Guay-Woodford

Get full text