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2. Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

Author

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

Published
2024
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4. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

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

Published
2023
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5. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Author

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

Published
2023
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6. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Author

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.

Published
2023
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7. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Author

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

Subjects
FSGS, SRNS, TRIM8, epilepsy, genomics, monogenic, nuclear body, Adult, Animals, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Developmental Disabilities, Epilepsy, Female, Glomerulosclerosis, Focal Segmental, Humans, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Proteins, Phenotype, Podocytes, Exome Sequencing
Abstract

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, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin ligase tripartite motif containing 8. To establish whether TRIM8 variants represent a cause of FSGS, we aggregated exome/genome-sequencing data for 2,501 pediatric FSGS/SRNS-affected individuals and 48,556 control subjects, detecting eight heterozygous TRIM8 truncating variants in affected subjects but none in control subjects (p = 3.28 × 10-11). In all six cases with available parental DNA, we demonstrated de novo inheritance (p = 2.21 × 10-15). Reverse phenotyping revealed neurodevelopmental disease in all eight families. We next analyzed ES from 9,067 individuals with epilepsy, yielding three additional families with truncating TRIM8 variants. Clinical review revealed FSGS in all. All TRIM8 variants cause protein truncation clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Wild-type TRIM8 overexpressed in immortalized human podocytes and neuronal cells localized to nuclear bodies, while constructs harboring patient-specific variants mislocalized diffusely to the nucleoplasm. Co-localization studies demonstrated that Gemini and Cajal bodies frequently abut a TRIM8 nuclear body. Truncating TRIM8 DNVs cause a neuro-renal syndrome via aberrant TRIM8 localization, implicating nuclear bodies in FSGS and developmental brain disease.

Published
2021

8. Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease

Author

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

Published
2023
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9. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David, Batourina, Ekaterina, Sampson, Matthew, Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina, Vivante, Asaf, Shril, Shirlee, Kil, Byum, Marasà, Maddalena, Zhang, Jun, Na, Young-Ji, Lim, Tze, Ahram, Dina, Weng, Patricia, Heinzen, Erin, Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna, 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, Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark, Darlow, John, Puri, Prem, Barton, David, Furth, Susan, Warady, Bradley, Gucev, Zoran, Lozanovski, Vladimir, Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida, Campistol, Josep, Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig, Lin, Fangming, Miranda, Débora, Oliveira, Eduardo, Simões-E-Silva, Ana, Barasch, Jonathan, Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia, Mendelsohn, Cathy, Gharavi, Ali, and Sanna-Cherchi, Simone

Subjects
Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney, Male, Urinary Tract, Urogenital Abnormalities, Vesico-Ureteral Reflux
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Published
2019

10. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Author

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

Published
2023
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11. Autoantibodies Targeting Nephrin in Podocytopathies

Author

Hengel, Felicitas E., primary, Dehde, Silke, additional, Lassé, Morit, additional, Zahner, Gunther, additional, Seifert, Larissa, additional, Schnarre, Annabel, additional, Kretz, Oliver, additional, Demir, Fatih, additional, Pinnschmidt, Hans O., additional, Grahammer, Florian, additional, Lucas, Renke, additional, Mehner, Lea Maxima, additional, Zimmermann, Tom, additional, Billing, Anja M., additional, Oh, Jun, additional, Mitrotti, Adele, additional, Pontrelli, Paola, additional, Debiec, Hanna, additional, Dossier, Claire, additional, Colucci, Manuela, additional, Emma, Francesco, additional, Smoyer, William E., additional, Weins, Astrid, additional, Schaefer, Franz, additional, Alachkar, Nada, additional, Diemert, Anke, additional, Hogan, Julien, additional, Hoxha, Elion, additional, Wiech, Thorsten, additional, Rinschen, Markus M., additional, Ronco, Pierre, additional, Vivarelli, Marina, additional, Gesualdo, Loreto, additional, Tomas, Nicola M., additional, and Huber, Tobias B., additional

Published
2024
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12. What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management

Author

Mitrotti, Adele, primary, Di Bari, Ighli, additional, Giliberti, Marica, additional, Franzin, Rossana, additional, Conserva, Francesca, additional, Chiusolo, Anna, additional, Gigante, Maddalena, additional, Accetturo, Matteo, additional, Cafiero, Cesira, additional, Ricciato, Luisa, additional, Stea, Emma Diletta, additional, Forleo, Cinzia, additional, Gallone, Anna, additional, Rossini, Michele, additional, Fiorentino, Marco, additional, Castellano, Giuseppe, additional, Pontrelli, Paola, additional, and Gesualdo, Loreto, additional

Published
2024
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14. Strong protective effect of theAPOL1p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

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

Published
2023
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15. Effect of music therapy intervention on anxiety and pain during percutaneous renal biopsy: a randomized controlled trial.

Author

Giordano, Filippo, Mitrotti, Adele, Losurdo, Antonia, Esposito, Flavia, Granata, Antonio, Pesino, Alessandra, Rossini, Michele, Natale, Patrizia, Dileo, Vincenzo, Fiorentino, Marco, and Gesualdo, Loreto

Subjects
*MUSIC therapy, *RENAL biopsy, *RANDOMIZED controlled trials, *PAIN management, *HEART beat
Abstract

Background Percutaneous renal biopsy (PRB) may subject patients to emotional distress and pain before and during the biopsy. The aim of this study was to evaluate the effects of complementary/non-pharmacological interventions such as music therapy (MT) on anxiety, pain and satisfaction in renal patients undergoing PRB. Methods A prospective, single-centre, single-blind, randomized controlled two-arm trial was conducted. Patients ≥18 years of age, hospitalized at the Nephrology, Dialysis and Transplantation Unit (Bari, Italy) and scheduled for PRB were screened. Participants were assigned to standard treatment (CG) or to the music therapy (MT) intervention group. Participants in the MT group received standard care and an MT intervention by a certified music therapist qualified in guided imagery and music. The CG patients received the standard of care. MT and CG patients were subjected to identical measurements (pre/post) of the parameters in the State Trait Anxiety Inventory Y1 (STAI-Y1), visual analogue scale for pain (VAS-P) and satisfaction (VAS-S) and heart rate variability. Results A statistically significant difference in the anxiety scores after PRB between MT and CG patients (STAI-Y1 35.4 ± 6.2 versus 42.9 ± 9.0) was observed. MT also had strong and significant effects on VAS-P compared with CG (5.0 ± 1.4 versus 6.3 ± 1.3, respectively; P  < .001) and VAS-S (7.8 ± 1.0 versus 6.0 ± 0.9, respectively; P  < .001). Decreased activity of the sympathetic nervous system and increased activity of the parasympathetic nervous system was observed after PRB in the MT group. Conclusion Our study supports the use of MT to mitigate the psychological anxiety, pain and sympathetic activation associated with PRB. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Convalescent plasma therapy in aHUS patient with SARS-CoV-2 infection

Author

Stea Emma Diletta, Pronzo Virginia, Pesce Francesco, Fiorentino Marco, Mitrotti Adele, Di Leo Vincenzo, Cortese Cosma, Casanova Annalisa, Nestola Sebastiano, Capaccio Flavia, and Gesualdo Loreto

Abstract

Endotheliosis, thrombotic microangiopathy and complement system over activation have been described as pathologic features of tissue damage in the setting of coronavirus disease. Interestingly, complement-mediated cell injury is also a typical feature of atypical Hemolytic Uremic Syndrome. Indeed, a growing body of literature has described a higher risk of microangiopathy recurrence, in aHUS patients who test positive for SARS-CoV-2. The correct clinical and therapeutic management patients with a history of HUS and SARS-CoV-2 infection is not well established. We report a case of SARS-CoV-2 infection in an aHUS patient who did not develop a recurrence of the disease and that was successfully treated with convalescent immune plasma therapy.

Published
2022
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18. Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

Author

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

Published
2022
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19. Supplement to: Genetic drivers of kidney defects in the DiGeorge syndrome.

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drosdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Bielenska, Anna Latos, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017

20. Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

Author

Lata, Sneh, Marasa, Maddalena, Li, Yifu, Fasel, David A., Groopman, Emily, Jobanputra, Vaidehi, Rasouly, Hila, Mitrotti, Adele, Westland, Rik, Verbitsky, Miguel, Nestor, Jordan, Slater, Lindsey M., DʼAgati, Vivette, Zaniew, Marcin, Materna-Kiryluk, Anna, Lugani, Francesca, Caridi, Gianluca, Rampoldi, Luca, Mattoo, Aditya, Newton, Chad A., Rao, Maya K., Radhakrishnan, Jai, Ahn, Wooin, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Antignac, Corinne, Markowitz, Glen S., Garcia, Christine K., Kiryluk, Krzysztof, Sanna-Cherchi, Simone, and Gharavi, Ali G.

Published
2018
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21. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017
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22. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

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, Marasa, 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., Simoes-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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24. GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

Author

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

Published
2021
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25. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Author

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

Abstract

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, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin ligase tripartite motif containing 8. To establish whether TRIM8 variants represent a cause of FSGS, we aggregated exome/genome-sequencing data for 2,501 pediatric FSGS/SRNS-affected individuals and 48,556 control subjects, detecting eight heterozygous TRIM8 truncating variants in affected subjects but none in control subjects (p = 3.28 3 10(-11)). In all six cases with available parental DNA, we demonstrated de novo inheritance (p = 2.21 3 10(-15)). Reverse phenotyping revealed neurodevelopmental disease in all eight families. We next analyzed ES from 9,067 individuals with epilepsy, yielding three additional families with truncating TRIM8 variants. Clinical review revealed FSGS in all. All TRIM8 variants cause protein truncation clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Wild-type TRIM8 overexpressed in immortalized human podocytes and neuronal cells localized to nuclear bodies, while constructs harboring patient-specific variants mislocalized diffusely to the nucleoplasm. Co-localization studies demonstrated that Gemini and Cajal bodies frequently abut a TRIM8 nuclear body. Truncating TRIM8 DNVs cause a neuro-renal syndrome via aberrant TRIM8 localization, implicating nuclear bodies in FSGS and developmental brain disease.

Published
2021

27. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Author

Verbitsky, Miguel, primary, Krithivasan, Priya, additional, Batourina, Ekaterina, additional, Khan, Atlas, additional, Graham, Sarah E., additional, Marasà, Maddalena, additional, Kim, Hyunwoo, additional, Lim, Tze Y., additional, Weng, Patricia L., additional, Sánchez-Rodríguez, Elena, additional, Mitrotti, Adele, additional, Ahram, Dina F., additional, Zanoni, Francesca, additional, Fasel, David A., additional, Westland, Rik, additional, Sampson, Matthew G., additional, Zhang, Jun Y., additional, Bodria, Monica, additional, Kil, Byum Hee, additional, Shril, Shirlee, additional, Gesualdo, Loreto, additional, Torri, Fabio, additional, Scolari, Francesco, additional, Izzi, Claudia, additional, van Wijk, Joanna A.E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Barton, David E., additional, Dobson, Mark G., additional, Puri, Prem, additional, Furth, Susan L., additional, Warady, Bradley A., additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Allegri, Landino, additional, Degl'Innocenti, Maria Ludovica, additional, Piaggio, Giorgio, additional, Alam, Shumyle, additional, Gigante, Maddalena, additional, Zaza, Gianluigi, additional, Esposito, Pasquale, additional, Lin, Fangming, additional, Simões-e-Silva, Ana Cristina, additional, Brodkiewicz, Andrzej, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Sikora, Przemyslaw, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Lozanovski, Vladimir J., additional, Gucev, Zoran, additional, Ionita-Laza, Iuliana, additional, Stanaway, Ian B., additional, Crosslin, David R., additional, Wong, Craig S., additional, Hildebrandt, Friedhelm, additional, Barasch, Jonathan, additional, Kenny, Eimear E., additional, Loos, Ruth J.F., additional, Levy, Brynn, additional, Ghiggeri, Gian Marco, additional, Hakonarson, Hakon, additional, Latos-Bieleńska, Anna, additional, Materna-Kiryluk, Anna, additional, Darlow, John M., additional, Tasic, Velibor, additional, Willer, Cristen, additional, Kiryluk, Krzysztof, additional, Sanna-Cherchi, Simone, additional, Mendelsohn, Cathy L., additional, and Gharavi, Ali G., additional

Published
2021
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29. Podocytes

Author

Giliberti, Marica, primary, Mitrotti, Adele, additional, and Gesualdo, Loreto, additional

Published
2020
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30. Diagnostic Utility of Exome Sequencing for Kidney Disease

Author

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

Abstract

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 1 in 10 persons globally. METHODS We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients for whom detailed clinical data were available, the clinical implications of diagnostic and other medically relevant findings. RESULTS In all, 3037 patients (91.6%) were over 21 years of age, and 1179 (35.6%) were of self-identified non-European ancestry. We detected diagnostic variants in 307 of the 3315 patients (9.3%), encompassing 66 different monogenic disorders. Of the disorders detected, 39 (59%) were found in only a single patient. Diagnostic variants were detected across all clinically defined categories, including congenital or cystic renal disease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of 281 patients [17.1%]). Of the 2187 patients assessed, 34 (1.6%) had genetic findings for medically actionable disorders that, although unrelated to their nephropathy, would also lead to subspecialty referral and inform renal management. CONCLUSIONS Exome sequencing in a combined cohort of more than 3000 patients with chronic kidney disease yielded a genetic diagnosis in just under 10% of cases.

Published
2019
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34. Diagnostic Utility of Exome Sequencing for Kidney Disease

Author

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

Published
2019
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35. Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

Author

Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G., Pediatric surgery, ACS - Microcirculation, and Amsterdam Reproduction & Development (AR&D)

Abstract

(The American Journal of Human Genetics 101, 789–802; November 2, 2017) In the version of this paper originally published, the author's name Anna Materna-Kiryluk was incorrectly hyphenated. It appears correctly here and online. The authors apologize for this error.

Published
2017
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36. The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, primary, Westland, Rik, additional, Perez, Alejandra, additional, Kiryluk, Krzysztof, additional, Liu, Qingxue, additional, Krithivasan, Priya, additional, Mitrotti, Adele, additional, Fasel, David A., additional, Batourina, Ekaterina, additional, Sampson, Matthew G., additional, Bodria, Monica, additional, Werth, Max, additional, Kao, Charlly, additional, Martino, Jeremiah, additional, Capone, Valentina P., additional, Vivante, Asaf, additional, Shril, Shirlee, additional, Kil, Byum Hee, additional, Marasà, Maddalena, additional, Zhang, Jun Y., additional, Na, Young-Ji, additional, Lim, Tze Y., additional, Ahram, Dina, additional, Weng, Patricia L., additional, Heinzen, Erin L., additional, Carrea, Alba, additional, Piaggio, Giorgio, additional, Gesualdo, Loreto, additional, Manca, Valeria, additional, Masnata, Giuseppe, additional, Gigante, Maddalena, additional, Cusi, Daniele, additional, Izzi, Claudia, additional, Scolari, Francesco, additional, van Wijk, Joanna A. E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Zamboli, Pasquale, additional, White, Hope, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Krakowska, Anna, additional, Sikora, Przemyslaw, additional, Jarmoliński, Tomasz, additional, Borszewska-Kornacka, Maria K., additional, Pawluch, Robert, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Dobson, Mark G., additional, Darlow, John M., additional, Puri, Prem, additional, Barton, David E., additional, Furth, Susan L., additional, Warady, Bradley A., additional, Gucev, Zoran, additional, Lozanovski, Vladimir J., additional, Tasic, Velibor, additional, Pisani, Isabella, additional, Allegri, Landino, additional, Rodas, Lida M., additional, Campistol, Josep M., additional, Jeanpierre, Cécile, additional, Alam, Shumyle, additional, Casale, Pasquale, additional, Wong, Craig S., additional, Lin, Fangming, additional, Miranda, Débora M., additional, Oliveira, Eduardo A., additional, Simões-e-Silva, Ana Cristina, additional, Barasch, Jonathan M., additional, Levy, Brynn, additional, Wu, Nan, additional, Hildebrandt, Friedhelm, additional, Ghiggeri, Gian Marco, additional, Latos-Bielenska, Anna, additional, Materna-Kiryluk, Anna, additional, Zhang, Feng, additional, Hakonarson, Hakon, additional, Papaioannou, Virginia E., additional, Mendelsohn, Cathy L., additional, Gharavi, Ali G., additional, and Sanna-Cherchi, Simone, additional

Published
2018
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37. The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing

Author

Rasouly, Hila Milo, primary, Groopman, Emily E., additional, Heyman-Kantor, Reuben, additional, Fasel, David A., additional, Mitrotti, Adele, additional, Westland, Rik, additional, Bier, Louise, additional, Weng, Chunhua, additional, Ren, Zhong, additional, Copeland, Brett, additional, Krithivasan, Priya, additional, Chung, Wendy K., additional, Sanna-Cherchi, Simone, additional, Goldstein, David B., additional, and Gharavi, Ali G., additional

Published
2018
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38. Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Author

Lata, Sneh, primary, Marasa, Maddalena, additional, Li, Yifu, additional, Fasel, David A., additional, Groopman, Emily, additional, Jobanputra, Vaidehi, additional, Rasouly, Hila, additional, Mitrotti, Adele, additional, Westland, Rik, additional, Verbitsky, Miguel, additional, Nestor, Jordan, additional, Slater, Lindsey M., additional, D'Agati, Vivette, additional, Zaniew, Marcin, additional, Materna-Kiryluk, Anna, additional, Lugani, Francesca, additional, Caridi, Gianluca, additional, Rampoldi, Luca, additional, Mattoo, Aditya, additional, Newton, Chad A., additional, Rao, Maya K., additional, Radhakrishnan, Jai, additional, Ahn, Wooin, additional, Canetta, Pietro A., additional, Bomback, Andrew S., additional, Appel, Gerald B., additional, Antignac, Corinne, additional, Markowitz, Glen S., additional, Garcia, Christine K., additional, Kiryluk, Krzysztof, additional, Sanna-Cherchi, Simone, additional, and Gharavi, Ali G., additional

Published
2017
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39. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Author

Sanna-Cherchi, Simone, primary, Khan, Kamal, additional, Westland, Rik, additional, Krithivasan, Priya, additional, Fievet, Lorraine, additional, Rasouly, Hila Milo, additional, Ionita-Laza, Iuliana, additional, Capone, Valentina P., additional, Fasel, David A., additional, Kiryluk, Krzysztof, additional, Kamalakaran, Sitharthan, additional, Bodria, Monica, additional, Otto, Edgar A., additional, Sampson, Matthew G., additional, Gillies, Christopher E., additional, Vega-Warner, Virginia, additional, Vukojevic, Katarina, additional, Pediaditakis, Igor, additional, Makar, Gabriel S., additional, Mitrotti, Adele, additional, Verbitsky, Miguel, additional, Martino, Jeremiah, additional, Liu, Qingxue, additional, Na, Young-Ji, additional, Goj, Vinicio, additional, Ardissino, Gianluigi, additional, Gigante, Maddalena, additional, Gesualdo, Loreto, additional, Janezcko, Magdalena, additional, Zaniew, Marcin, additional, Mendelsohn, Cathy Lee, additional, Shril, Shirlee, additional, Hildebrandt, Friedhelm, additional, van Wijk, Joanna A.E., additional, Arapovic, Adela, additional, Saraga, Marijan, additional, Allegri, Landino, additional, Izzi, Claudia, additional, Scolari, Francesco, additional, Tasic, Velibor, additional, Ghiggeri, Gian Marco, additional, Latos-Bielenska, Anna, additional, Materna-Kiryluk, Anna, additional, Mane, Shrikant, additional, Goldstein, David B., additional, Lifton, Richard P., additional, Katsanis, Nicholas, additional, Davis, Erica E., additional, and Gharavi, Ali G., additional

Published
2017
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41. The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Author

Rasouly, Hila Milo, Groopman, Emily E., Heyman-Kantor, Reuben, Fasel, David A., Mitrotti, Adele, Westland, Rik, Bier, Louise, Weng, Chunhua, Ren, Zhong, Copeland, Brett, Krithivasan, Priya, Chung, Wendy K., Sanna-Cherchi, Simone, Goldstein, David B., and Gharavi, Ali G.

Subjects
GENITOURINARY diseases, KIDNEY diseases, EXOMES, MEDICAL referrals, ALLELES, GENE frequency, DIAGNOSIS, DIAGNOSTIC errors, GENES, DISEASES in men, RESEARCH funding
Abstract

Background: Exome sequencing is increasingly being used for clinical diagnostics, with an impetus to expand reporting of incidental findings across a wide range of disorders. Analysis of population cohorts can help reduce risk for genetic variant misclassification and resultant unnecessary referrals to subspecialists.Objective: To examine the burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing.Design: Secondary analysis of genetic data.Setting: A tertiary care academic medical center.Patients: A convenience sample of exome sequence data from 7974 self-declared healthy adults.Measurements: Assessment of the prevalence of candidate pathogenic variants in 625 genes associated with Mendelian kidney and genitourinary disorders.Results: Of all participants, 23.3% carried a candidate pathogenic variant, most of which were attributable to previously reported variants that had implausibly high allele frequencies. In particular, 25 genes (discovered before the creation of the Exome Aggregation Consortium, a genetic database comprising data from a large control population) accounted for 67.7% of persons with candidate pathogenic variants. After stringent filtering based on allele frequency, 1.4% of persons still had a candidate pathogenic variant, an excessive rate given the prevalence of monogenic kidney and genitourinary disorders. Manual annotation of a subset of variants showed that the majority would be classified as nonbenign under current guidelines for clinical sequence interpretation and could prompt subspecialty referrals if returned.Limitation: Limited access to health record data prevented comprehensive assessment of the phenotypic concordance with genetic diagnoses.Conclusion: Widespread reporting of incidental genetic findings related to kidney and genitourinary disorders will require stringent curation of clinical variant databases and detailed case-level review to avoid genetic misdiagnosis and unnecessary referrals. These findings motivate similar analyses for genes relevant to other medical subspecialties.Primary Funding Source: National Institute of Diabetes and Digestive and Kidney Diseases and National Human Genome Research Institute. [ABSTRACT FROM AUTHOR]

Published
2019
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42. The Genetics of Idiopathic Nephrotic Syndrome at the Population Level

Author

Wooden, Benjamin, Jin, Gina, Mitrotti, Adele, Gupta, Yask, Elliott, Mark, Lim, Tze Yin, Canetta, Pietro A., Marasa, Maddalena, Khan, Atlas, Montini, Giovanni, Tasic, Velibor, Giordano, Mario, Scolari, Francesco, Conti, Giovanni, Magistroni, Riccardo, Bomback, Andrew S., Kiryluk, Krzysztof, Fiaccadori, Enrico, Gesualdo, Loreto, Caliskan, Yasar, D'Agati, Vivette D., Ghiggeri, Gian Marco, Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2023
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44. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Author

Gupta Y, Friedman DJ, McNulty M, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, and Sanna-Cherchi S

Abstract

Black Americans have a significantly higher risk of developing chronic kidney disease (CKD), especially focal segmental glomerulosclerosis (FSGS), than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this disparity. While 13% of Black Americans carry the high-risk recessive genotypes, only a fraction of these individuals develops FSGS or kidney failure, indicating the involvement of additional disease modifiers. Here, we show that the presence of the APOL1 p.N264K missense variant, when co-inherited with the G2 APOL1 risk allele, substantially reduces the penetrance of the G1G2 and G2G2 high-risk genotypes by rendering these genotypes low-risk. These results align with prior functional evidence showing that the p.N264K variant reduces the toxicity of the APOL1 high-risk alleles. These findings have important implications for our understanding of the mechanisms of APOL1 -associated nephropathy, as well as for the clinical management of individuals with high-risk genotypes that include the G2 allele.

Published
2023
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45. The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.

Author

Vaisitti T, Peritore D, Magistroni P, Ricci A, Lombardini L, Gringeri E, Catalano S, Spada M, Sciveres M, Di Giorgio A, Limongelli G, Varrenti M, Gerosa G, Terzi A, Pace Napoleone C, Amodeo A, Ragni L, Dello Strologo L, Benetti E, Fontana I, Testa S, Peruzzi L, Mitrotti A, Abbate S, Comai G, Gotti E, Schiavon M, Boffini M, De Angelis D, Bertani A, Pinelli D, Torre M, Poggi C, Deaglio S, Cardillo M, and Amoroso A

Subjects
Child, Humans, Italy, Quality of Life, Registries, Transplant Recipients, Kidney Transplantation, Organ Transplantation
Abstract

Background: Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare diseases have a genetic background and most of them are monogenic conditions. In addition, while the majority of these diseases is still incurable, early diagnosis and specific treatment can improve patients' quality of life. Transplantation is among the therapeutic options and represents the definitive treatment for end-stage organ failure, both in children and adults. The aim of this paper was to analyze, in a large cohort of Italian patients, the main rare genetic diseases that led to organ transplantation, specifically pointing the attention on the pediatric cohort., Results: To the purpose of our analysis, we considered heart, lung, liver and kidney transplants included in the Transplant Registry (TR) of the Italian National Transplantation Center in the 2002-2019 timeframe. Overall, 49,404 recipients were enrolled in the cohort, 5.1% of whom in the pediatric age. For 40,909 (82.8%) transplant recipients, a disease diagnosis was available, of which 38,615 in the adult cohort, while 8,495 patients (17.2%) were undiagnosed. There were 128 disease categories, and of these, 117 were listed in the main rare disease databases. In the pediatric cohort, 2,294 (5.6%) patients had a disease diagnosis: of the 2,126 (92.7%) patients affected by a rare disease, 1,402 (61.1%) presented with a monogenic condition. As expected, the frequencies of pathologies leading to organ failure were different between the pediatric and the adult cohort. Moreover, the pediatric group was characterized, compared to the adult one, by an overall better survival of the graft at ten years after transplant, with the only exception of lung transplants. When comparing survival considering rare vs non-rare diseases or rare and monogenic vs rare non-monogenic conditions, no differences were highlighted for kidney and lung transplants, while rare diseases had a better survival in liver as opposed to heart transplants., Conclusions: This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children., (© 2021. The Author(s).)

Published
2021
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46. [Medicine and Nephrology from Social Networks].

Author

Montinaro V, Cataldo E, Cianciotta F, Colucci V, D'Ettorre G, Di Leo V, Giliberti M, Mitrotti A, and Villani C

Subjects
Humans, Medicine, Nephrology, Social Networking
Published
2018

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