641 results on '"Gharavi, Ali G"'
Search Results
2. Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy
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Wooden, Benjamin, Beenken, Andrew, Martinelli, Elena, Saida, Ken, Knob, Andrea L., Ke, Juntao, Pisani, Isabella, Jin, Gina, Lane, Brandon, Mitrotti, Adele, Colby, Elizabeth, Lim, Tze Y., Guglielmi, Francesca, Osborne, Amy J., Ahram, Dina F., Wang, Chen, Armand, Farid, Zanoni, Francesca, Bomback, Andrew S., Delsante, Marco, Appel, Gerald B., Ferrari, Massimo R.A., Martino, Jeremiah, Sahdeo, Sunil, Breckenridge, David, Petrovski, Slavé, Paul, Dirk S., Hall, Gentzon, Magistroni, Riccardo, Murtas, Corrado, Feriozzi, Sandro, Rampino, Teresa, Esposito, Pasquale, Helmuth, Margaret E., Sampson, Matthew G., Kretzler, Matthias, Kiryluk, Krzysztof, Shril, Shirlee, Gesualdo, Loreto, Maggiore, Umberto, Fiaccadori, Enrico, Gbadegesin, Rasheed, Santoriello, Dominick, DʼAgati, Vivette D., Saleem, Moin A., Gharavi, Ali G., Hildebrandt, Friedhelm, Pollak, Martin R., Goldstein, David B., and Sanna-Cherchi, Simone
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- 2024
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3. Increased risk of kidney failure in patients with genetic kidney disorders
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Elliott, Mark D., Vena, Natalie, Marasa, Maddalena, Cocchi, Enrico, Bheda, Shiraz, Bogyo, Kelsie, Shang, Ning, Zanoni, Francesca, Verbitsky, Miguel, Wang, Chen, Kolupaeva, Victoria, Jin, Gina, Sofer, Maayan, Pena, Rafael Gras, Canetta, Pietro A., Bomback, Andrew S., Guay-Woodford, Lisa M., Hou, Jean, Gillespie, Brenda W., Robinson, Bruce M., Klein, Jon B., Rheault, Michelle N., Smoyer, William E., Greenbaum, Larry A., Holzman, Larry B., Falk, Ronald J., Parsa, Afshin, Sanna-Cherchi, Simone, Mariani, Laura H., Kretzler, Matthias, Kiryluk, Krzysztof, and Gharavi, Ali G.
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Physiological aspects ,Complications and side effects ,Risk factors ,Medical research ,Genetic disorders -- Physiological aspects -- Complications and side effects ,Chronic kidney failure -- Risk factors -- Physiological aspects ,Medicine, Experimental - Abstract
Introduction Chronic kidney disease (CKD) is a heterogeneous group of conditions affecting over 10% of the population, causing substantial morbidity and mortality (1-3). Genetic kidney disorders are well-recognized causes of [...], BACKGROUND. It is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders. METHODS. Three cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs). RESULTS. Monogenic kidney disorders were identified in 371 patients (6.5%), high-risk APOL1 genotypes in 318 (5.5%), and ACMG SFs in 100 (5.2%). Family history of kidney disease was the strongest predictor of monogenic disorders. After adjustment for traditional risk factors, monogenic kidney disorders were associated with an increased risk of kidney failure (hazard ratio [HR] = 1.72), higher rate of eGFR decline (-3.06 vs. 0.25 mL/min/1.73 [m.sup.2]/year), and lower risk of complete remission ([odds ratio.sub.Not achieving CR] = 5.25). High-risk APOL1 genotypes were associated with an increased risk of kidney failure (HR = 1.67) and faster eGFR decline (-2.28 vs. 0.25 mL/min/1.73 [m.sup.2]), replicating prior findings. ACMG SFs were not associated with personal or family history of associated diseases, but were predicted to impact care in 70% of cases. CONCLUSIONS. Monogenic kidney disorders were associated with an increased risk of kidney failure, faster eGFR decline, and lower rates of complete remission, suggesting opportunities for early identification and intervention based on molecular diagnosis. TRIAL REGISTRATION. NA. FUNDING. National Institute of Diabetes and Digestive and Kidney Diseases grants U24DK100845 (formerly UM1DK100845), U01DK100846 (formerly UM1DK100846), U01DK100876 (formerly UM1DK100876), U01DK100866 (formerly UM1DK100866), U01DK100867 (formerly UM1DK100867), U24DK100845, DK081943, RC2DK116690, 2U01DK100876, 1R01DK136765, 5R01DK082753, and RC2-DK122397; NephCure Kidney International; Department of Defense Research Awards PR201425, W81XWH-16-1-0451, and W81XWH-22-1-0966; National Center for Advancing Translational Sciences grant UL1TR001873; National Library of Medicine grant R01LM013061; National Human Genome Research Institute grant 2U01HG008680.
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- 2024
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4. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
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Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Sr., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., Wong, Craig S., Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., and Gharavi, Ali G.
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- 2024
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5. The All of Us Research Program: Data quality, utility, and diversity
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Ramirez, Andrea H, Sulieman, Lina, Schlueter, David J, Halvorson, Alese, Qian, Jun, Ratsimbazafy, Francis, Loperena, Roxana, Mayo, Kelsey, Basford, Melissa, Deflaux, Nicole, Muthuraman, Karthik N, Natarajan, Karthik, Kho, Abel, Xu, Hua, Wilkins, Consuelo, Anton-Culver, Hoda, Boerwinkle, Eric, Cicek, Mine, Clark, Cheryl R, Cohn, Elizabeth, Ohno-Machado, Lucila, Schully, Sheri D, Ahmedani, Brian K, Argos, Maria, Cronin, Robert M, O’Donnell, Christopher, Fouad, Mona, Goldstein, David B, Greenland, Philip, Hebbring, Scott J, Karlson, Elizabeth W, Khatri, Parinda, Korf, Bruce, Smoller, Jordan W, Sodeke, Stephen, Wilbanks, John, Hentges, Justin, Mockrin, Stephen, Lunt, Christopher, Devaney, Stephanie A, Gebo, Kelly, Denny, Joshua C, Carroll, Robert J, Glazer, David, Harris, Paul A, Hripcsak, George, Philippakis, Anthony, Roden, Dan M, Program, the All of Us Research, Ahmedani, Brian, Johnson, Christine D Cole, Ahsan, Habib, Antoine-LaVigne, Donna, Singleton, Glendora, Topol, Eric, Baca-Motes, Katie, Steinhubl, Steven, Wade, James, Begale, Mark, Jain, Praduman, Sutherland, Scott, Lewis, Beth, Behringer, Melissa, Gharavi, Ali G, Bier, Louise, Brilliant, Murray H, Murali, Narayana, Hebbring, Scott Joseph, Farrar-Edwards, Dorothy, Burnside, Elizabeth, Drezner, Marc K, Taylor, Amy, Channamsetty, Veena, Montalvo, Wanda, Sharma, Yashoda, Chinea, Carmen, Jenks, Nancy, Thibodeau, Steve, Holmes, Beverly Wilson, Schlueter, Eric, Collier, Ever, Winkler, Joyce, Corcoran, John, D’Addezio, Nick, Daviglus, Martha, Winn, Robert, Roden, Dan, Denny, Joshua, Doheny, Kim, Nickerson, Debbie, Eichler, Evan, Jarvik, Gail, and Funk, Gretchen
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Networking and Information Technology R&D (NITRD) ,Clinical Research ,Cardiovascular ,Cancer ,Generic health relevance ,Good Health and Well Being ,All of Us Research Program ,cloud-based analytics ,cohort study ,electronic health records ,precision medicine - Abstract
The All of Us Research Program seeks to engage at least one million diverse participants to advance precision medicine and improve human health. We describe here the cloud-based Researcher Workbench that uses a data passport model to democratize access to analytical tools and participant information including survey, physical measurement, and electronic health record (EHR) data. We also present validation study findings for several common complex diseases to demonstrate use of this novel platform in 315,000 participants, 78% of whom are from groups historically underrepresented in biomedical research, including 49% self-reporting non-White races. Replication findings include medication usage pattern differences by race in depression and type 2 diabetes, validation of known cancer associations with smoking, and calculation of cardiovascular risk scores by reported race effects. The cloud-based Researcher Workbench represents an important advance in enabling secure access for a broad range of researchers to this large resource and analytical tools.
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- 2022
6. Bridging the Gap in Genomic Implementation: Identifying User Needs for Precision Nephrology
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Kneifati-Hayek, Jerard Z., Zachariah, Teena, Ahn, Wooin, Khan, Atlas, Kiryluk, Krzysztof, Mohan, Sumit, Weng, Chunhua, Gharavi, Ali G., and Nestor, Jordan G.
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- 2024
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7. Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients
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Ma, Becky M., Elefant, Naama, Tedesco, Martina, Bogyo, Kelsie, Vena, Natalie, Murthy, Sarath K., Bheda, Shiraz A., Yang, Sandy, Tomar, Nikita, Zhang, Jun Y., Husain, Syed Ali, Mohan, Sumit, Kiryluk, Krzysztof, Rasouly, Hila Milo, and Gharavi, Ali G.
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- 2024
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8. Genetic versus self-reported African ancestry of the recipient and neighborhood predictors of kidney transplantation outcomes in 2 multiethnic urban cohorts
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Zanoni, Francesca, Neugut, Y. Dana, Obayemi, Joy E., Liu, Lili, Zhang, Jun Y., Ratner, Lloyd E., Cohen, David J., Mohan, Sumit, Gharavi, Ali G., Keating, Brendan, and Kiryluk, Krzysztof
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- 2024
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9. Polygenic risk alters the penetrance of monogenic kidney disease
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Khan, Atlas, Shang, Ning, Nestor, Jordan G., Weng, Chunhua, Hripcsak, George, Harris, Peter C., Gharavi, Ali G., and Kiryluk, Krzysztof
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- 2023
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10. The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
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Kong, Xiao-Fei, Bogyo, Kelsie, Kapoor, Sheena, Shea, Patrick R., Groopman, Emily E., Thomas-Wilson, Amanda, Cocchi, Enrico, Milo Rasouly, Hila, Zheng, Beishi, Sun, Siming, Zhang, Junying, Martinez, Mercedes, Vittorio, Jennifer M., Dove, Lorna M., Marasa, Maddalena, Wang, Timothy C., Verna, Elizabeth C., Worman, Howard J., Gharavi, Ali G., Goldstein, David B., and Wattacheril, Julia
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- 2023
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11. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
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Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., and Sanna-Cherchi, Simone
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- 2023
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12. Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits
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Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., and Kiryluk, Krzysztof
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- 2023
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13. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
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Kiryluk, Krzysztof, Sanchez-Rodriguez, Elena, Zhou, Xu-Jie, Zanoni, Francesca, Liu, Lili, Mladkova, Nikol, Khan, Atlas, Marasa, Maddalena, Zhang, Jun Y., Balderes, Olivia, Sanna-Cherchi, Simone, Bomback, Andrew S., Canetta, Pietro A., Appel, Gerald B., Radhakrishnan, Jai, Trimarchi, Hernan, Sprangers, Ben, Cattran, Daniel C., Reich, Heather, Pei, York, Ravani, Pietro, Galesic, Kresimir, Maixnerova, Dita, Tesar, Vladimir, Stengel, Benedicte, Metzger, Marie, Canaud, Guillaume, Maillard, Nicolas, Berthoux, Francois, Berthelot, Laureline, Pillebout, Evangeline, Monteiro, Renato, Nelson, Raoul, Wyatt, Robert J., Smoyer, William, Mahan, John, Samhar, Al-Akash, Hidalgo, Guillermo, Quiroga, Alejandro, Weng, Patricia, Sreedharan, Raji, Selewski, David, Davis, Keefe, Kallash, Mahmoud, Vasylyeva, Tetyana L., Rheault, Michelle, Chishti, Aftab, Ranch, Daniel, Wenderfer, Scott E., Samsonov, Dmitry, Claes, Donna J., Akchurin, Oleh, Goumenos, Dimitrios, Stangou, Maria, Nagy, Judit, Kovacs, Tibor, Fiaccadori, Enrico, Amoroso, Antonio, Barlassina, Cristina, Cusi, Daniele, Del Vecchio, Lucia, Battaglia, Giovanni Giorgio, Bodria, Monica, Boer, Emanuela, Bono, Luisa, Boscutti, Giuliano, Caridi, Gianluca, Lugani, Francesca, Ghiggeri, GianMarco, Coppo, Rosanna, Peruzzi, Licia, Esposito, Vittoria, Esposito, Ciro, Feriozzi, Sandro, Polci, Rosaria, Frasca, Giovanni, Galliani, Marco, Garozzo, Maurizio, Mitrotti, Adele, Gesualdo, Loreto, Granata, Simona, Zaza, Gianluigi, Londrino, Francesco, Magistroni, Riccardo, Pisani, Isabella, Magnano, Andrea, Marcantoni, Carmelita, Messa, Piergiorgio, Mignani, Renzo, Pani, Antonello, Ponticelli, Claudio, Roccatello, Dario, Salvadori, Maurizio, Salvi, Erica, Santoro, Domenico, Gembillo, Guido, Savoldi, Silvana, Spotti, Donatella, Zamboli, Pasquale, Izzi, Claudia, Alberici, Federico, Delbarba, Elisa, Florczak, Michał, Krata, Natalia, Mucha, Krzysztof, Pączek, Leszek, Niemczyk, Stanisław, Moszczuk, Barbara, Pańczyk-Tomaszewska, Malgorzata, Mizerska-Wasiak, Malgorzata, Perkowska-Ptasińska, Agnieszka, Bączkowska, Teresa, Durlik, Magdalena, Pawlaczyk, Krzysztof, Sikora, Przemyslaw, Zaniew, Marcin, Kaminska, Dorota, Krajewska, Magdalena, Kuzmiuk-Glembin, Izabella, Heleniak, Zbigniew, Bullo-Piontecka, Barbara, Liberek, Tomasz, Dębska-Slizien, Alicja, Hryszko, Tomasz, Materna-Kiryluk, Anna, Miklaszewska, Monika, Szczepańska, Maria, Dyga, Katarzyna, Machura, Edyta, Siniewicz-Luzeńczyk, Katarzyna, Pawlak-Bratkowska, Monika, Tkaczyk, Marcin, Runowski, Dariusz, Kwella, Norbert, Drożdż, Dorota, Habura, Ireneusz, Kronenberg, Florian, Prikhodina, Larisa, van Heel, David, Fontaine, Bertrand, Cotsapas, Chris, Wijmenga, Cisca, Franke, Andre, Annese, Vito, Gregersen, Peter K., Parameswaran, Sreeja, Weirauch, Matthew, Kottyan, Leah, Harley, John B., Suzuki, Hitoshi, Narita, Ichiei, Goto, Shin, Lee, Hajeong, Kim, Dong Ki, Kim, Yon Su, Park, Jin-Ho, Cho, BeLong, Choi, Murim, Van Wijk, Ans, Huerta, Ana, Ars, Elisabet, Ballarin, Jose, Lundberg, Sigrid, Vogt, Bruno, Mani, Laila-Yasmin, Caliskan, Yasar, Barratt, Jonathan, Abeygunaratne, Thilini, Kalra, Philip A., Gale, Daniel P., Panzer, Ulf, Rauen, Thomas, Floege, Jürgen, Schlosser, Pascal, Ekici, Arif B., Eckardt, Kai-Uwe, Chen, Nan, Xie, Jingyuan, Lifton, Richard P., Loos, Ruth J. F., Kenny, Eimear E., Ionita-Laza, Iuliana, Köttgen, Anna, Julian, Bruce A., Novak, Jan, Scolari, Francesco, Zhang, Hong, and Gharavi, Ali G.
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- 2023
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14. Targeting WIP1 phosphatase promotes partial remission in experimental collapsing glomerulopathy
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Duret, Lou C., Hamidouche, Tynhinane, Steers, Nicholas J., Pons, Catherine, Soubeiran, Nicolas, Buret, Delphine, Gilson, Eric, Gharavi, Ali G., D’Agati, Vivette D., and Shkreli, Marina
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- 2024
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15. Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies
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Martino, Jeremiah, Liu, Qingxue, Vukojevic, Katarina, Ke, Juntao, Lim, Tze Y., Khan, Atlas, Gupta, Yask, Perez, Alejandra, Yan, Zonghai, Milo Rasouly, Hila, Vena, Natalie, Lippa, Natalie, Giordano, Jessica L., Saraga, Marijan, Saraga-Babic, Mirna, Westland, Rik, Bodria, Monica, Piaggio, Giorgio, Bendapudi, Pavan K., Iglesias, Alejandro D., Wapner, Ronald J., Tasic, Velibor, Wang, Fan, Ionita-Laza, Iuliana, Ghiggeri, Gian Marco, Kiryluk, Krzysztof, Sampogna, Rosemary V., Mendelsohn, Cathy L., D’Agati, Vivette D., Gharavi, Ali G., and Sanna-Cherchi, Simone
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- 2023
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16. The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease
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Dahl, Neera K., Bloom, Michelle S., Chebib, Fouad T., Clark, Dinah, Westemeyer, Maggie, Jandeska, Sara, Zhang, Zhiji, Milo-Rasouly, Hila, Kolupaeva, Victoria, Marasa, Maddalena, Broumand, Varshasb, Fatica, Richard A., Raj, Dominic S., Demko, Zachary P., Marshall, Kyle, Punj, Sumit, Tabriziani, Hossein, Bhorade, Sangeeta, and Gharavi, Ali G.
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- 2023
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17. Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease
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Marasa, Maddalena, Ahram, Dina F., Rehman, Atteeq U., Mitrotti, Adele, Abhyankar, Avinash, Jain, Namrata G., Weng, Patricia L., Piva, Stacy E., Fernandez, Hilda E., Uy, Natalie S., Chatterjee, Debanjana, Kil, Byum H., Nestor, Jordan G., Felice, Vanessa, Robinson, Dino, Whyte, Dilys, Gharavi, Ali G., Appel, Gerald B., Radhakrishnan, Jai, Santoriello, Dominick, Bomback, Andrew, Lin, Fangming, D’Agati, Vivette D., Jobanputra, Vaidehi, and Sanna-Cherchi, Simone
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- 2023
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18. The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists
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Rasouly, Hila Milo, Balderes, Olivia, Marasa, Maddalena, Fernandez, Hilda, Lipton, Marissa, Lin, Fangming, Gharavi, Ali G., and Sabatello, Maya
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- 2023
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19. Genome-wide polygenic score to predict chronic kidney disease across ancestries
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Khan, Atlas, Turchin, Michael C., Patki, Amit, Srinivasasainagendra, Vinodh, Shang, Ning, Nadukuru, Rajiv, Jones, Alana C., Malolepsza, Edyta, Dikilitas, Ozan, Kullo, Iftikhar J., Schaid, Daniel J., Karlson, Elizabeth, Ge, Tian, Meigs, James B., Smoller, Jordan W., Lange, Christoph, Crosslin, David R., Jarvik, Gail P., Bhatraju, Pavan K., Hellwege, Jacklyn N., Chandler, Paulette, Torvik, Laura Rasmussen, Fedotov, Alex, Liu, Cong, Kachulis, Christopher, Lennon, Niall, Abul-Husn, Noura S., Cho, Judy H., Ionita-Laza, Iuliana, Gharavi, Ali G., Chung, Wendy K., Hripcsak, George, Weng, Chunhua, Nadkarni, Girish, Irvin, Marguerite R., Tiwari, Hemant K., Kenny, Eimear E., Limdi, Nita A., and Kiryluk, Krzysztof
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- 2022
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20. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
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Morris, Andrew P, Le, Thu H, Wu, Haojia, Akbarov, Artur, van der Most, Peter J, Hemani, Gibran, Smith, George Davey, Mahajan, Anubha, Gaulton, Kyle J, Nadkarni, Girish N, Valladares-Salgado, Adan, Wacher-Rodarte, Niels, Mychaleckyj, Josyf C, Dueker, Nicole D, Guo, Xiuqing, Hai, Yang, Haessler, Jeffrey, Kamatani, Yoichiro, Stilp, Adrienne M, Zhu, Gu, Cook, James P, Ärnlöv, Johan, Blanton, Susan H, de Borst, Martin H, Bottinger, Erwin P, Buchanan, Thomas A, Cechova, Sylvia, Charchar, Fadi J, Chu, Pei-Lun, Damman, Jeffrey, Eales, James, Gharavi, Ali G, Giedraitis, Vilmantas, Heath, Andrew C, Ipp, Eli, Kiryluk, Krzysztof, Kramer, Holly J, Kubo, Michiaki, Larsson, Anders, Lindgren, Cecilia M, Lu, Yingchang, Madden, Pamela AF, Montgomery, Grant W, Papanicolaou, George J, Raffel, Leslie J, Sacco, Ralph L, Sanchez, Elena, Stark, Holger, Sundstrom, Johan, Taylor, Kent D, Xiang, Anny H, Zivkovic, Aleksandra, Lind, Lars, Ingelsson, Erik, Martin, Nicholas G, Whitfield, John B, Cai, Jianwen, Laurie, Cathy C, Okada, Yukinori, Matsuda, Koichi, Kooperberg, Charles, Chen, Yii-Der Ida, Rundek, Tatjana, Rich, Stephen S, Loos, Ruth JF, Parra, Esteban J, Cruz, Miguel, Rotter, Jerome I, Snieder, Harold, Tomaszewski, Maciej, Humphreys, Benjamin D, and Franceschini, Nora
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Kidney ,Humans ,Kidney Calculi ,Hypertension ,Histones ,Glomerular Filtration Rate ,Histone Code ,Blood Pressure ,Polymorphism ,Single Nucleotide ,Adult ,Aged ,Middle Aged ,Ethnic Groups ,Female ,Male ,Renal Insufficiency ,Chronic ,Genome-Wide Association Study ,Genetic Loci ,Polymorphism ,Single Nucleotide ,Renal Insufficiency ,Chronic - Abstract
Chronic kidney disease (CKD) affects ~10% of the global population, with considerable ethnic differences in prevalence and aetiology. We assemble genome-wide association studies of estimated glomerular filtration rate (eGFR), a measure of kidney function that defines CKD, in 312,468 individuals of diverse ancestry. We identify 127 distinct association signals with homogeneous effects on eGFR across ancestries and enrichment in genomic annotations including kidney-specific histone modifications. Fine-mapping reveals 40 high-confidence variants driving eGFR associations and highlights putative causal genes with cell-type specific expression in glomerulus, and in proximal and distal nephron. Mendelian randomisation supports causal effects of eGFR on overall and cause-specific CKD, kidney stone formation, diastolic blood pressure and hypertension. These results define novel molecular mechanisms and putative causal genes for eGFR, offering insight into clinical outcomes and routes to CKD treatment development.
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- 2019
21. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
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Ahram, Dina F., Lim, Tze Y., Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E., Marasa, Maddalena, Zhang, Jun Y., Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J., Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P., Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B., Uy, Natalie S., Rao, Maya K., Canetta, Pietro A., Bomback, Andrew S., Nestor, Jordan G., Hays, Thomas, Cohen, David J., Finale, Carolina, Wijk, Joanna A.E. van, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G., Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, and Sanna-Cherchi, Simone
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- 2023
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22. The All of Us Research Program: Data quality, utility, and diversity
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Ahmedani, Brian, Cole Johnson, Christine D., Ahsan, Habib, Antoine-LaVigne, Donna, Singleton, Glendora, Anton-Culver, Hoda, Topol, Eric, Baca-Motes, Katie, Steinhubl, Steven, Wade, James, Begale, Mark, Jain, Praduman, Sutherland, Scott, Lewis, Beth, Korf, Bruce, Behringer, Melissa, Gharavi, Ali G., Goldstein, David B., Hripcsak, George, Bier, Louise, Boerwinkle, Eric, Brilliant, Murray H., Murali, Narayana, Hebbring, Scott Joseph, Farrar-Edwards, Dorothy, Burnside, Elizabeth, Drezner, Marc K., Taylor, Amy, Channamsetty, Veena, Montalvo, Wanda, Sharma, Yashoda, Chinea, Carmen, Jenks, Nancy, Cicek, Mine, Thibodeau, Steve, Holmes, Beverly Wilson, Schlueter, Eric, Collier, Ever, Winkler, Joyce, Corcoran, John, D’Addezio, Nick, Daviglus, Martha, Winn, Robert, Wilkins, Consuelo, Roden, Dan, Denny, Joshua, Doheny, Kim, Nickerson, Debbie, Eichler, Evan, Jarvik, Gail, Funk, Gretchen, Philippakis, Anthony, Rehm, Heidi, Lennon, Niall, Kathiresan, Sekar, Gabriel, Stacey, Gibbs, Richard, Gil Rico, Edgar M., Glazer, David, Grand, Joannie, Greenland, Philip, Harris, Paul, Shenkman, Elizabeth, Hogan, William R., Igho-Pemu, Priscilla, Pollan, Cliff, Jorge, Milena, Okun, Sally, Karlson, Elizabeth W., Smoller, Jordan, Murphy, Shawn N., Ross, Margaret Elizabeth, Kaushal, Rainu, Winford, Eboni, Wallace, Febe, Khatri, Parinda, Kheterpal, Vik, Ojo, Akinlolu, Moreno, Francisco A., Kron, Irving, Peterson, Rachele, Menon, Usha, Lattimore, Patricia Watkins, Leviner, Noga, Obedin-Maliver, Juno, Lunn, Mitchell, Malik-Gagnon, Lynda, Mangravite, Lara, Marallo, Adria, Marroquin, Oscar, Visweswaran, Shyam, Reis, Steven, Marshall, Gailen, Jr., McGovern, Patrick, Mignucci, Deb, Moore, John, Munoz, Fatima, Talavera, Gregory, O'Connor, George T., O'Donnell, Christopher, Ohno-Machado, Lucila, Orr, Greg, Randal, Fornessa, Theodorou, Andreas A., Reiman, Eric, Roxas-Murray, Mercedita, Stark, Louisa, Tepp, Ronnie, Zhou, Alicia, Topper, Scott, Trousdale, Rhonda, Tsao, Phil, Weidman, Lisa, Weiss, Scott T., Wellis, David, Whittle, Jeffrey, Wilson, Amanda, Zuchner, Stephan, Zwick, Michael E., Ramirez, Andrea H., Sulieman, Lina, Schlueter, David J., Halvorson, Alese, Qian, Jun, Ratsimbazafy, Francis, Loperena, Roxana, Mayo, Kelsey, Basford, Melissa, Deflaux, Nicole, Muthuraman, Karthik N., Natarajan, Karthik, Kho, Abel, Xu, Hua, Clark, Cheryl R., Cohn, Elizabeth, Schully, Sheri D., Ahmedani, Brian K., Argos, Maria, Cronin, Robert M., O’Donnell, Christopher, Fouad, Mona, Hebbring, Scott J., Smoller, Jordan W., Sodeke, Stephen, Wilbanks, John, Hentges, Justin, Mockrin, Stephen, Lunt, Christopher, Devaney, Stephanie A., Gebo, Kelly, Denny, Joshua C., Carroll, Robert J., Harris, Paul A., and Roden, Dan M.
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- 2022
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23. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Köttgen, Anna, Cornec-Le Gall, Emilie, Halbritter, Jan, Kiryluk, Krzysztof, Mallett, Andrew J., Parekh, Rulan S., Rasouly, Hila Milo, Sampson, Matthew G., Tin, Adrienne, Antignac, Corinne, Ars, Elisabet, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora, Fukagawa, Masafumi, Gale, Daniel P., Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna, Gross, Oliver, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S., Nicholls, Kathleen, Nozu, Kandai, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone, Savige, Judy, Sayer, John A., Scolari, Francesco, Sedor, John R., Sim, Xueling, Somlo, Stefan, Susztak, Katalin, Tayo, Bamidele O., Torra, Roser, van Eerde, Albertien M., Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., and Gharavi, Ali G.
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- 2022
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24. Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits
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Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., and Kiryluk, Krzysztof
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- 2022
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25. Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes
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Elliott, Mark D., Marasa, Maddalena, Cocchi, Enrico, Vena, Natalie, Zhang, Jun Y., Khan, Atlas, Krishna Murthy, Sarath, Bheda, Shiraz, Milo Rasouly, Hila, Povysil, Gundula, Kiryluk, Krzysztof, and Gharavi, Ali G.
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- 2023
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26. Emerging Genetic Insight into ATIN
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Khan, Atlas and Gharavi, Ali G.
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- 2023
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27. Genomic Disorders in CKD across the Lifespan
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Verbitsky, Miguel, Krishnamurthy, Sarathbabu, Krithivasan, Priya, Hughes, Daniel, Khan, Atlas, Marasà, Maddalena, Vena, Natalie, Khosla, Pavan, Zhang, Junying, Lim, Tze Y., Glessner, Joseph T., Weng, Chunhua, Shang, Ning, Shen, Yufeng, Hripcsak, George, Hakonarson, Hakon, Ionita-Laza, Iuliana, Levy, Brynn, Kenny, Eimear E., Loos, Ruth J.F., Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Crosslin, David R., Furth, Susan, Warady, Bradley A., Igo, Robert P., Jr., Iyengar, Sudha K., Wong, Craig S., Parsa, Afshin, Feldman, Harold I., and Gharavi, Ali G.
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- 2023
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28. Improving data quality in observational research studies: Report of the Cure Glomerulonephropathy (CureGN) network
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Gillespie, Brenda W., Laurin, Louis-Philippe, Zinsser, Dawn, Lafayette, Richard, Marasa, Maddalena, Wenderfer, Scott E., Vento, Suzanne, Poulton, Caroline, Barisoni, Laura, Zee, Jarcy, Helmuth, Margaret, Lugani, Francesca, Kamel, Margret, Hill-Callahan, Peg, Hewitt, Stephen M., Mariani, Laura H., Smoyer, William E., Greenbaum, Larry A., Gipson, Debbie S., Robinson, Bruce M., Gharavi, Ali G., Guay-Woodford, Lisa M., and Trachtman, Howard
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- 2021
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29. Genetic testing for kidney disease of unknown etiology
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Hays, Thomas, Groopman, Emily E., and Gharavi, Ali G.
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- 2020
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30. Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies
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Shang, Ning, Khan, Atlas, Polubriaginof, Fernanda, Zanoni, Francesca, Mehl, Karla, Fasel, David, Drawz, Paul E., Carrol, Robert J., Denny, Joshua C., Hathcock, Matthew A., Arruda-Olson, Adelaide M., Peissig, Peggy L., Dart, Richard A., Brilliant, Murray H., Larson, Eric B., Carrell, David S., Pendergrass, Sarah, Verma, Shefali Setia, Ritchie, Marylyn D., Benoit, Barbara, Gainer, Vivian S., Karlson, Elizabeth W., Gordon, Adam S., Jarvik, Gail P., Stanaway, Ian B., Crosslin, David R., Mohan, Sumit, Ionita-Laza, Iuliana, Tatonetti, Nicholas P., Gharavi, Ali G., Hripcsak, George, Weng, Chunhua, and Kiryluk, Krzysztof
- Published
- 2021
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31. Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group
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Franceschini, Nora, Feldman, David L., Berg, Jonathan S., Besse, Whitney, Chang, Alexander R., Dahl, Neera K., Gbadegesin, Rasheed, Pollak, Martin R., Rasouly, Hila Milo, Smith, Richard J.H., Winkler, Cheryl A., Gharavi, Ali G., Ars, Elisabet, Reza Bekheirnia, Mir, Bier, Louise, Bleyer, Anthony J., Fuller, Lindsey J., Halbritter, Jan, Harris, Peter C., Kiryluk, Krzysztof, Knoers, Nine V.A.M., Kopp, Jeffrey B., Kramer, Holly, Lagas, Sharon S., Lieske, John C., Lu, Weining, Mannon, Roslyn B., Markowitz, Glen, Moe, Orson W., Nadkarni, Girish N., Nast, Cynthia C., Parekh, Rulan S., Pei, York, Reed, Katie, Rehm, Heidi L., Richards, Denay J., Roberts, Mary-Beth, Sabatello, Maya, Salant, David J., Sampson, Matthew G., Sanna-Cherchi, Simone, Santoriello, Dominick, Sedor, John R., Sneddon, Tam P., Watnick, Terry, Wilfond, Benjamin S., Williams, Winfred W., and Wong, Craig S.
- Abstract
About 37 million people in the United States have chronic kidney disease, a disease that encompasses multiple causes. About 10% or more of kidney diseases in adults and as many as 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.
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- 2024
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32. Rare genetic causes of complex kidney and urological diseases
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Groopman, Emily E., Povysil, Gundula, Goldstein, David. B., and Gharavi, Ali G.
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- 2020
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33. The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
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Zhao, Emily, Bomback, Miles, Khan, Atlas, Krishna Murthy, Sarath, Solowiejczyk, David, Vora, Neeta L., Gilmore, Kelly L., Giordano, Jessica L., Wapner, Ronald J., Sanna‐Cherchi, Simone, Lyford, Alex, Jelin, Angie C., Gharavi, Ali G., and Hays, Thomas
- Abstract
Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre‐ and postnatal phenotypes associated with GREB1L. Methods: We solicited cases from the Fetal Sequencing Consortium, screened a population‐based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes. Results: One hundred twenty‐seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot. Conclusion: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants. Key points: What is Already Known? GREB1L is associated prenatally with Potter's sequence, and postnatally with less severe anomalies of the kidney, uterus, inner ear, and heart.Known cardiac anomalies are aortic stenosis and ventricular hypertrophy. What does this Study Add? We identified complex congenital heart disease (CHD) associated with GREB1L.Clinicians should consider GREB1L testing in the setting of CHD, particularly outflow tract anomalies.Clinicians should consider pre‐ and postnatal screening for cardiac anomalies in the setting of GREB1L variants. [ABSTRACT FROM AUTHOR]
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- 2024
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34. Mutations in DSTYK and Dominant Urinary Tract Malformations
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Sanna-Cherchi, Simone, Sampogna, Rosemary V, Papeta, Natalia, Burgess, Katelyn E, Nees, Shannon N, Perry, Brittany J, Choi, Murim, Bodria, Monica, Liu, Yan, Weng, Patricia L, Lozanovski, Vladimir J, Verbitsky, Miguel, Lugani, Francesca, Sterken, Roel, Paragas, Neal, Caridi, Gianluca, Carrea, Alba, Dagnino, Monica, Materna-Kiryluk, Anna, Santamaria, Giuseppe, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Kacak, Nilgun, Bianco, Beatrice, Giberti, Stefania, Gigante, Maddalena, Piaggio, Giorgio, Gesualdo, Loreto, Vukic, Durdica Kosuljandic, Vukojevic, Katarina, Saraga-Babic, Mirna, Saraga, Marijan, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Casu, Domenica, State, Matthew, Scolari, Francesco, Ravazzolo, Roberto, Kiryluk, Krzysztof, Al-Awqati, Qais, D'Agati, Vivette D, Drummond, Iain A, Tasic, Velibor, Lifton, Richard P, Ghiggeri, Gian Marco, and Gharavi, Ali G
- Subjects
Urologic Diseases ,Pediatric ,Congenital Structural Anomalies ,Human Genome ,Kidney Disease ,Biotechnology ,Genetics ,Clinical Research ,1.1 Normal biological development and functioning ,2.1 Biological and endogenous factors ,Underpinning research ,Aetiology ,Renal and urogenital ,Adult ,Animals ,Base Sequence ,Child ,Exome ,Female ,Gene Knockdown Techniques ,Genetic Linkage ,Genome-Wide Association Study ,Heterozygote ,Humans ,Infant ,Kidney ,Male ,Mice ,Molecular Sequence Data ,Mutation ,Pedigree ,RNA ,Small Interfering ,Receptor-Interacting Protein Serine-Threonine Kinases ,Urinary Tract ,Urogenital Abnormalities ,Young Adult ,Medical and Health Sciences ,General & Internal Medicine - Abstract
BackgroundCongenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.MethodsWe performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members). We also performed a sequence analysis in 311 unrelated patients, as well as histologic and functional studies.ResultsLinkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single, rare, deleterious variant within these linkage intervals, a heterozygous splice-site mutation in the dual serine-threonine and tyrosine protein kinase gene (DSTYK). This variant, which resulted in aberrant splicing of messenger RNA, was present in all affected family members. Additional, independent DSTYK mutations, including nonsense and splice-site mutations, were detected in 7 of 311 unrelated patients. DSTYK is highly expressed in the maturing epithelia of all major organs, localizing to cell membranes. Knockdown in zebrafish resulted in developmental defects in multiple organs, which suggested loss of fibroblast growth factor (FGF) signaling. Consistent with this finding is the observation that DSTYK colocalizes with FGF receptors in the ureteric bud and metanephric mesenchyme. DSTYK knockdown in human embryonic kidney cells inhibited FGF-stimulated phosphorylation of extracellular-signal-regulated kinase (ERK), the principal signal downstream of receptor tyrosine kinases.ConclusionsWe detected independent DSTYK mutations in 2.3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling. (Funded by the National Institutes of Health and others.).
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- 2013
35. Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study
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Milo Rasouly, Hila, Wynn, Julia, Marasa, Maddalena, Reingold, Rachel, Chatterjee, Debanjana, Kapoor, Sheena, Piva, Stacy, Kil, Byum Hee, Mu, Xueru, Alvarez, Maria, Nestor, Jordan, Mehl, Karla, Revah-Politi, Anya, Lippa, Natalie, Ernst, Michelle E., Bier, Louise, Espinal, Aileen, Haser, Bianca, Sinha, Anoushka, Halim, Ian, Fasel, David, Cuneo, Nicole, Thompson, Jacqueline J., Verbitsky, Miguel, Cohn, Elizabeth G., Goldman, Jill, Marder, Karen, Klitzman, Robert L., Orjuela, Manuela A., So, Yat S., Fedotov, Alex, Crew, Katherine D., Kiryluk, Krzysztof, Appelbaum, Paul S., Weng, Chunhua, Siegel, Karolynn, Gharavi, Ali G., and Chung, Wendy K.
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- 2019
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36. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
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Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, and Gibbs, Richard A.
- Published
- 2019
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37. The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasà, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., and Sanna-Cherchi, Simone
- Published
- 2019
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38. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
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Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E, Bodria, Monica, Sampson, Matthew G, Hadley, Dexter, Nees, Shannon N, Verbitsky, Miguel, Perry, Brittany J, Sterken, Roel, Lozanovski, Vladimir J, Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L, Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K, Lifton, Richard P, Sanders, Stephan, State, Matthew, Clark, Lorraine N, Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F, Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, and Gharavi, Ali G
- Subjects
Prevention ,Kidney Disease ,Human Genome ,Genetics ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Renal and urogenital ,Case-Control Studies ,Chromosome Aberrations ,DNA Copy Number Variations ,Genetic Association Studies ,Genotype ,Humans ,Kidney Diseases ,Molecular Sequence Annotation ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.
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- 2012
39. A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy in the Mouse
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Zheng, Zongyu, Schmidt-Ott, Kai M., Chua, Streamson, Foster, Kirk A., Frankel, Rachelle Z., Pavlidis, Paul, Barasch, Jonathan, Gharavi, Ali G., and Lifton, Richard P.
- Published
- 2005
40. Mapping a Locus for Susceptibility to HIV-1-Associated Nephropathy to Mouse Chromosome 3
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Gharavi, Ali G., Ahmad, Tariq, Wong, Robert D., Hooshyar, Roozbeh, Vaughn, Janene, Oller, Sarah, Frankel, Rachelle Z., Bruggeman, Leslie A., D'Agati, Vivette D., Klotman, Paul E., and Lifton, Richard P.
- Published
- 2004
41. Strong protective effect of theAPOL1p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
- Author
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Gupta, Yask, primary, Friedman, David J., additional, McNulty, Michelle, additional, Khan, Atlas, additional, Lane, Brandon, additional, Wang, Chen, additional, Ke, Juntao, additional, Jin, Gina, additional, Wooden, Benjamin, additional, Knob, Andrea L., additional, Lim, Tze Y., additional, Appel, Gerald B., additional, Huggins, Kinsie, additional, Liu, Lili, additional, Mitrotti, Adele, additional, Stangl, Megan C., additional, Bomback, Andrew, additional, Westland, Rik, additional, Bodria, Monica, additional, Marasa, Maddalena, additional, Shang, Ning, additional, Cohen, David J., additional, Crew, Russell J., additional, Morello, William, additional, Canetta, Pietro, additional, Radhakrishnan, Jai, additional, Martino, Jeremiah, additional, Liu, Qingxue, additional, Chung, Wendy K., additional, Espinoza, Angelica, additional, Luo, Yuan, additional, Wei, Wei-Qi, additional, Feng, Qiping, additional, Weng, Chunhua, additional, Fang, Yilu, additional, Kullo, Iftikhar J., additional, Naderian, Mohammadreza, additional, Limdi, Nita, additional, Irvin, Marguerite R., additional, Tiwari, Hemant, additional, Mohan, Sumit, additional, Rao, Maya, additional, Dube, Geoffrey, additional, Chaudhary, Ninad S., additional, Gutiérrez, Orlando M., additional, Judd, Suzanne E., additional, Cushman, Mary, additional, Lange, Leslie A., additional, Lange, Ethan M., additional, Bivona, Daniel L., additional, Verbitsky, Miguel, additional, Winkler, Cheryl A., additional, Kopp, Jeffrey B., additional, Santoriello, Dominick, additional, Batal, Ibrahim, additional, Brant Pinheiro, Sérgio Veloso, additional, Araújo Oliveira, Eduardo, additional, e Silva, Ana Cristina Simoes, additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Lin, Fangming, additional, Gesualdo, Loreto, additional, Amoroso, Antonio, additional, Ghiggeri, Gian Marco, additional, D’Agati, Vivette D., additional, Magistroni, Riccardo, additional, Kenny, Eimear E., additional, Loos, Ruth J.F., additional, Montini, Giovanni, additional, Hildebrandt, Friedhelm, additional, Paul, Dirk S., additional, Petrovski, Slavé, additional, Goldstein, David B., additional, Kretzler, Matthias, additional, Gbadegesin, Rasheed, additional, Gharavi, Ali G., additional, Kiryluk, Krzysztof, additional, Sampson, Matthew G., additional, Pollak, Martin R., additional, and Sanna-Cherchi, Simone, additional
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- 2023
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42. Not all proteinuria is created equal
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Beenken, Andrew, Barasch, Jonathan M., and Gharavi, Ali G.
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Proteinuria -- Development and progression ,Hypertension -- Development and progression ,Angiotensins ,Type 2 diabetes -- Development and progression ,Enzymes ,Enzyme inhibitors ,Chronic kidney failure -- Development and progression ,Genes ,Kidney diseases ,Aldosterone ,Glucocorticoids ,Diseases ,Health care industry - Abstract
Albuminuria acts as a marker of progressive chronic kidney disease and as an indicator for initiation of hypertension treatment via modulation of the renin-angiotensin-aldosterone system with angiotensin receptor blockers or angiotensin-converting enzyme inhibitors. However, the true significance of albuminuria has yet to be fully defined. Is it merely a marker of underlying pathophysiology, or does it play a causal role in the progression of kidney disease? The answer remains under debate. In this issue of the JCI, Bedin et al. used next-generation sequencing data to identify patients with chronic proteinuria who had biallelic variants in the cubilin gene (CUBN). Through investigation of these pathogenic mutations in CUBN, the authors have further illuminated the clinical implications of albuminuria., Biallelic mutations related to proteinuria The kidneys filter approximately 180 liters of plasma daily to balance the excretion of water, acid, nitrogen, sodium, and potassium with varying environmental conditions. Larger [...]
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- 2020
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43. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
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Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Ren, Hong, Wang, Weiming, Cui, Zhao, Lin, Li, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Liu, Gang, Caliskan, Yasar, Sidore, Carlo, Balderes, Olivia, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Zhang, Dan, Santoro, Domenico, Bonomini, Mario, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Tesar, Vladimir, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Galliani, Marco, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Lugani, Francesca, Ghiggeri, GianMarco, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Cattran, Daniel C., Fervenza, Fernando C., Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Dufek, Stephanie, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Akilesh, Shreeram, Kretzler, Matthias, Beck, Lawrence H., Stengel, Benedicte, Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Brenchley, Paul, Scolari, Francesco, Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, and Kiryluk, Krzysztof
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- 2020
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44. 100 - Approach to the Patient with Renal Disease
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Gharavi, Ali G. and Landry, Donald W.
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- 2024
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45. 1 - Approach to Medicine, the Patient, and the Medical Profession: Medicine as a Learned and Humane Profession
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Goldman, Lee, Cooney, Kathleen A., Bibbins-Domingo, Kirsten, Crow, Mary K., Davidson, Nancy E., Drazen, Jeffrey M., Fraser, Victoria J., Gharavi, Ali G., Hollenberg, Anthony N., Claiborne Johnston, S., and Rustgi, Anil K.
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- 2024
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46. Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program
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Klarin, Derek, Verma, Shefali Setia, Judy, Renae, Dikilitas, Ozan, Wolford, Brooke N., Paranjpe, Ishan, Levin, Michael G., Pan, Cuiping, Tcheandjieu, Catherine, Spin, Joshua M., Lynch, Julie, Assimes, Themistocles L., Åldstedt Nyrønning, Linn, Mattsson, Erney, Edwards, Todd L., Denny, Josh, Larson, Eric, Lee, Ming Ta Michael, Carrell, David, Zhang, Yanfei, Jarvik, Gail P., Gharavi, Ali G., Harley, John, Mentch, Frank, Pacheco, Jennifer A., Hakonarson, Hakon, Skogholt, Anne Heidi, Thomas, Laurent, Gabrielsen, Maiken Elvestad, Hveem, Kristian, Nielsen, Jonas Bille, Zhou, Wei, Fritsche, Lars, Huang, Jie, Natarajan, Pradeep, Sun, Yan V., DuVall, Scott L., Rader, Daniel J., Cho, Kelly, Chang, Kyong-Mi, Wilson, Peter W.F., O’Donnell, Christopher J., Kathiresan, Sekar, Scali, Salvatore T., Berceli, Scott A., Willer, Cristen, Jones, Gregory T., Bown, Matthew J., Nadkarni, Girish, Kullo, Iftikhar J., Ritchie, Marylyn, Damrauer, Scott M., and Tsao, Philip S.
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- 2020
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47. Genetic basis of human congenital anomalies of the kidney and urinary tract
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Sanna-Cherchi, Simone, Westland, Rik, Ghiggeri, Gian Marco, and Gharavi, Ali G.
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Genetic testing -- Research ,Birth defects -- Genetic aspects -- Development and progression -- Diagnosis ,Genetic disorders -- Genetic aspects -- Development and progression -- Diagnosis ,Health care industry - Abstract
The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing., Introduction Congenital anomalies of the kidney and urinary tract (CAKUT) represent a spectrum of developmental malformations that include renal agenesis or hypodysplasia (RHD), multicystic dysplastic kidney (MCDK), ureteropelvic junction obstruction [...]
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- 2018
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48. GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
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Namjou, Bahram, Lingren, Todd, Huang, Yongbo, Parameswaran, Sreeja, Cobb, Beth L., Stanaway, Ian B., Connolly, John J., Mentch, Frank D., Benoit, Barbara, Niu, Xinnan, Wei, Wei-Qi, Carroll, Robert J., Pacheco, Jennifer A., Harley, Isaac T. W., Divanovic, Senad, Carrell, David S., Larson, Eric B., Carey, David J., Verma, Shefali, Ritchie, Marylyn D., Gharavi, Ali G., Murphy, Shawn, Williams, Marc S., Crosslin, David R., Jarvik, Gail P., Kullo, Iftikhar J., Hakonarson, Hakon, Li, Rongling, The eMERGE Network, Xanthakos, Stavra A., and Harley, John B.
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- 2019
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49. The impact of genetic education on referral of patients to genetic evaluation: Findings from a national survey of nephrologists
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Milo Rasouly, Hila, primary, Balderes, Olivia, additional, Marasa, Maddalena, additional, Fernandez, Hilda, additional, Lipton, Marissa, additional, Lin, Fangming, additional, Gharavi, Ali G., additional, and Sabatello, Maya, additional
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- 2023
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50. Genetics of Kidney Disease: The Unexpected Role of Rare Disorders
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Elliott, Mark D., primary, Rasouly, Hila Milo, additional, and Gharavi, Ali G., additional
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- 2023
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