Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Autor: 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

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Abstract Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk

Externí odkaz: https://doaj.org/article/1df6c689ebb545a68dd4d7a57a5fefc6

Implementation and feasibility of clinical genome sequencing embedded into the outpatient nephrology care for patients with proteinuric kidney disease

Autor: Maddalena Marasa, Dina F. Ahram, Atteeq U. Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G. Jain, Patricia L. Weng, Stacy E. Piva, Hilda E. Fernandez, Natalie S. Uy, Debanjana Chatterjee, Byum H. Kil, Jordan G. Nestor, Vanessa Felice, Dino Robinson, Dilys Whyte, Ali G. Gharavi, Gerald B. Appel, Jai Radhakrishnan, Dominick Santoriello, Andrew Bomback, Fangming Lin, Vivette D. D’Agati, Vaidehi Jobanputra, Simone Sanna-Cherchi

Publikováno v: Kidney International Reports.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3f137c07262e6fc615807ed22b02225
https://doi.org/10.1016/j.ekir.2023.05.021

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Autor: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis

Publikováno v: Am J Hum Genet

Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18
https://doi.org/10.1016/j.ajhg.2021.01.008

GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

Autor: Dmitry Samsonov, Edyta Machura, Dita Maixnerova, Bénédicte Stengel, Domenico Santoro, Loreto Gesualdo, Silvana Savoldi, Raoul D. Nelson, Florian Kronenberg, Hajeong Lee, Licia Peruzzi, Gianluca Caridi, Magdalena Krajewska, Vladimir Tesar, Richard P. Lifton, William E. Smoyer, Erica Salvi, Marcin Zaniew, Magdalena Durlik, Guillaume Canaud, Heather N. Reich, Luisa Bono, Anna Köttgen, Pietro A. Canetta, Maurizio Garozzo, Marco Galliani, Bertrand Fontaine, Thomas Rauen, Renzo Mignani, Maria Szczepańska, Carmelita Marcantoni, Lili Liu, Pietro Ravani, Andrea Magnano, Aftab S. Chishti, Ulf Panzer, Dong Ki Kim, T Baczkowska, Ben Sprangers, Lucia Del Vecchio, Dorota Drozdz, Larisa Prikhodina, John B. Harley, Tomasz Liberek, Monika Pawlak-Bratkowska, Maria Stangou, Ichiei Narita, José Ballarín, Hernán Trimarchi, Barbara Moszczuk, Agnieszka Perkowska-Ptasińska, Maurizio Salvadori, Laureline Berthelot, Francesca Lugani, Katarzyna Siniewicz-Luzeńczyk, Claudia Izzi, Peter K. Gregersen, Isabella Pisani, Michelle N. Rheault, Adele Mitrotti, Ruth J. F. Loos, Xu-jie Zhou, Krzysztof Pawlaczyk, Kai-Uwe Eckardt, Giovanni Frasca, Piergiorgio Messa, Elisabet Ars, Antonio Amoroso, Evangeline Pillebout, Vito Annese, Kresimir Galesic, Tibor Kovács, Hitoshi Suzuki, Krzysztof Kiryluk, Nan Chen, Guido Gembillo, Olivia Balderes, Ciro Esposito, Małgorzata Mizerska-Wasiak, Daniel P. Gale, Sreeja Parameswaran, Michał Florczak, Jai Radhakrishnan, Alicja Dbska-Slizien, Ireneusz Habura, Matthew T. Weirauch, Belong Cho, Guillermo Hidalgo, John D. Mahan, Bruce A. Julian, Andre Franke, Alejandro Quiroga, Rosanna Coppo, Atlas Khan, Murim Choi, Giuliano Boscutti, Izabella Kuzmiuk-Glembin, Nicolas Maillard, Rosaria Polci, Jonathan Barratt, Dario Roccatello, Donna J. Claes, Marie Metzger, Chris Cotsapas, Yasar Caliskan, Raji Sreedharan, Judit Nagy, Francesca Zanoni, Monica Bodria, Dariusz Runowski, Hong Zhang, Magorzata Panczyk-Tomaszewska, Robert J. Wyatt, Claudio Ponticelli, Nikol Mladkova, Przemysław Sikora, Marcin Tkaczyk, Riccardo Magistroni, Gerald B. Appel, Ans van Wijk, Krzysztof Mucha, Barbara Bułło-Piontecka, Jan Novak, Giovanni-Giorgio Battaglia, Anna Materna-Kiryluk, Emanuela Boer, Francesco Scolari, David A. van Heel, Tomasz Hryszko, Keefe Davis, Thilini Abeygunaratne, Simone Sanna-Cherchi, Zbigniew Heleniak, Eimear E. Kenny, Sigrid Lundberg, Al-Akash Samhar, Francesco Londrino, Tetyana L. Vasylyeva, Scott E. Wenderfer, Federico Alberici, Yon Su Kim, Enrico Fiaccadori, Bruno Vogt, Gianluigi Zaza, Stanisaw Niemczyk, Patricia L. Weng, Donatella Spotti, Gian Marco Ghiggeri, Dimitrios Goumenos, Daniel Ranch, David T. Selewski, Monika Miklaszewska, Laila-Yasmin Mani, Jin-Ho Park, Jürgen Floege, Antonello Pani, Renato C. Monteiro, Leszek Paczek, Akchurin Oleh, Maddalena Marasa, Ana Huerta, Sandro Feriozzi, Simona Granata, Andrew S. Bomback, Pascal Schlosser, York Pei, Vittoria Esposito, Mahmoud Kallash, Pasquale Zamboli, Cisca Wijmenga, Daniele Cusi, Elena Sanchez-Rodriguez, Ali G. Gharavi, Francois Berthoux, Shin Goto, Natalia Krata, Leah C. Kottyan, Norbert Kwella, Iuliana Ionita-Laza, Daniel C. Cattran, Cristina Barlassina, Arif B. Ekici, Katarzyna Dyga, Philip A. Kalra, Dorota Kamińska, Jingyuan Xie, Elisa Delbarba, Jun-Ying Zhang

IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. We performed a genome-wide association study involving 10,146 kidney biopsy-diagnosed IgAN cases and 28,751 matched controls across 17 internation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd596edcd6b021f97171556b363ec458
https://doi.org/10.1101/2021.11.19.21265383

Diagnostic Utility of Exome Sequencing for Kidney Disease

Autor: Hila Milo-Rasouly, Sophia R. Cameron-Christie, Vimla Aggarwal, Carolina Haefliger, Byum Hee Kil, Adam Platt, Brett Copeland, Andrew S. Bomback, Wan Yee Lam, Natalie S Uy, Simone Sanna-Cherchi, Junying Zhang, Rachel Reingold, Zhong Ren, Stacy Piva, Adele Mitrotti, David J. Cohen, Debanjana Chatterjee, Ruth March, Emily E. Groopman, Maddalena Marasa, Drew Bradbury, Sumit Mohan, Michael DiVecchia, David Goldstein, Shumyle Alam, Colin D. Malone, Jordan G. Nestor, Jan Fleckner, Chunhua Weng, Gerald B. Appel, Yifu Li, Priya Krithivasan, Russell J. Crew, Neha Dagaonkar, Olivia Balderes, Karla Mehl, David Fasel, Holly J. Snyder, Maya K. Rao, Joshua Bridgers, Geoffrey K. Dube, Krzysztof Kiryluk, Pietro A. Canetta, Bengt Fellström, Ali G. Gharavi, Jai Radhakrishnan, Wooin Ahn, Caroline Mebane, Slavé Petrovski, Xueru Mu, Sitharthan Kamalakaran

Publikováno v: New England Journal of Medicine. 380:142-151

BACKGROUND: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e8c8b3cbd348e504a27d334077dccd
https://doi.org/10.1056/nejmoa1806891