Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Jeremiah Martino"'
Autor:
Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
Abstract African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this di
Externí odkaz:
https://doaj.org/article/9f6233ad88a44f828fd1c0264b712139
Autor:
Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
Publikováno v:
Am J Hum Genet
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w
Autor:
Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk
Publikováno v:
Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori: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; Jarmolinski, 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, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora 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.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori: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; Jarmolinski, 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, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora 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.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group
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 signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277
https://ruj.uj.edu.pl/xmlui/handle/item/108818
https://ruj.uj.edu.pl/xmlui/handle/item/108818
Autor:
David Fasel, Magdalena Janezcko, Miguel Verbitsky, Katarina Vukojević, Monica Bodria, Edgar A. Otto, Hila Milo Rasouly, Virginia Vega-Warner, Marijan Saraga, Jeremiah Martino, Landino Allegri, Iuliana Ionita-Laza, Adele Mitrotti, Krzysztof Kiryluk, Joanna A.E. van Wijk, Richard P. Lifton, Claudia Izzi, David Goldstein, Vinicio Goj, Loreto Gesualdo, Velibor Tasic, Shrikant Mane, Ali G. Gharavi, Matthew G. Sampson, Adela Arapović, Gianluigi Ardissino, Young Ji Na, Marcin Zaniew, Rik Westland, Francesco Scolari, Simone Sanna-Cherchi, Erica E. Davis, Christopher E. Gillies, Shirlee Shril, Friedhelm Hildebrandt, Lorraine Fievet, Anna Materna-Kiryluk, Anna Latos-Bielenska, Cathy Mendelsohn, Valentina P Capone, Gabriel Makar, Qingxue Liu, Priya Krithivasan, Kamal Khan, Sitharthan Kamalakaran, Nicholas Katsanis, Gian Marco Ghiggeri, Igor Pediaditakis, Maddalena Gigante
Publikováno v:
Sanna-Cherchi, S, Khan, K, Westland, R, Krithivasan, P, Fievet, L, Rasouly, H M, Ionita-Laza, I, Capone, V P, Fasel, D A, Kiryluk, K, Kamalakaran, S, Bodria, M, Otto, E A, Sampson, M G, Gillies, C E, Vega-Warner, V, Vukojevic, K, Pediaditakis, I, Makar, G S, Mitrotti, A, Verbitsky, M, Martino, J, Liu, Q, Na, Y J, Goj, V, Ardissino, G, Gigante, M, Gesualdo, L, Janezcko, M, Zaniew, M, Mendelsohn, C L, Shril, S, Hildebrandt, F, van Wijk, J A E, Arapovic, A, Saraga, M, Allegri, L, Izzi, C, Scolari, F, Tasic, V, Ghiggeri, G M, Latos-Bielenska, A, Kiryluk, A M, Mane, S, Goldstein, D B, Lifton, R P, Katsanis, N, Davis, E E & Gharavi, A G 2017, ' Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations ', American journal of human genetics, vol. 101, no. 5, pp. 789-802 . https://doi.org/10.1016/j.ajhg.2017.09.018
American journal of human genetics, 101(5), 789-802. Cell Press
American journal of human genetics, 101(5), 789-802. Cell Press
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3a42ca76a4b241c69576911f5ac925
https://research.vumc.nl/en/publications/7a1c3557-be57-428b-a383-e7214d46b178
https://research.vumc.nl/en/publications/7a1c3557-be57-428b-a383-e7214d46b178
Autor:
Hana Flögelová, Marijan Saraga, Maria Szczepańska, John M Darlow, Nicholas Katsanis, Barry Honig, Donald Petrey, Ali Samii, Akira Imamoto, Adele Mitrotti, Vladimir J Lozanovski, Bradley A. Warady, Max Werth, Qingxue Liu, Susan L. Furth, Mirna Saraga-Babić, Silvia E. Racedo, Grażyna Krzemień, Yangfan P. Liu, Rik Westland, Christopher E. Gillies, Iain A. Drummond, Alba Carrea, Matthew G. Sampson, Nicholas J Steers, Rémi Salomon, Rong Deng, Valentina P Capone, V. D’Agati, Virginia E. Papaioannou, Richard P. Lifton, Katarina Vukojević, Claudia Izzi, Małgorzata Mizerska-Wasiak, Francesco Scolari, Marcin Tkaczyk, Joanna A.E. van Wijk, Gabriel Makar, Prem Puri, Esther Lopez-Rivera, Loreto Gesualdo, Bernice E. Morrow, Jonathan Barasch, Velibor Tasic, Marcin Zaniew, Cécile Jeanpierre, Adela Arapović, Asaf Vivante, Donna M. McDonald-McGinn, Terrence B. Crowley, Monica Bodria, Daniele Cusi, Wassila Carpentier, Craig S. Wong, Ali G. Gharavi, Miguel Verbitsky, David Fasel, Zhonghai Yan, Edgar A. Otto, David E. Barton, Zoran Gucev, Monika Miklaszewska, Virginia Vega-Warner, Dorota Drozdz, Jeremiah Martino, Elaine H. Zackai, Agnieszka Szmigielska, Anna Latos-Bielenska, Mariarosa Maiorana, Anna Materna-Kiryluk, Landino Allegri, Dominique Gaillard, Laurence Heidet, Friedhelm Hildebrandt, Hakon Hakonarson, Gian Marco Ghiggeri, Simone Sanna-Cherchi, Nenad Kunac, Przemysław Sikora, Emilio Casolari, Krzysztof Kiryluk, Blair R. Anderson
Publikováno v:
New England Journal of Medicine, 376(8), 742-754. Massachussetts Medical Society
Lopez-Rivera, E, Liu, Y P, Verbitsky, M, Anderson, B R, Capone, V P, Otto, E A, Yan, Z, Mitrotti, A, Martino, J, Steers, N J, Fasel, D A, Vukojevic, K, Deng, R, Racedo, S E, Liu, Q, Werth, M, Westland, R, Vivante, A, Makar, G S, Bodria, M, Sampson, M G, Gillies, C E, Vega-Warner, V, Maiorana, M, Petrey, D S, Honig, B, Lozanovski, V J, Salomon, R, Heidet, L, Carpentier, W, Gaillard, D, Carrea, A, Gesualdo, L, Cusi, D, Izzi, C, Scolari, F, Van Wijk, J A E, Arapovic, A, Saraga-Babic, M, Saraga, M, Kunac, N, Samii, A, McDonald-McGinn, D M, Crowley, T B, Zackai, E H, Drozdz, D, Miklaszewska, M, Tkaczyk, M, Sikora, P, Szczepanska, M, Mizerska-Wasiak, M, Krzemien, G, Szmigielska, A, Zaniew, M, Darlow, J M, Puri, P, Barton, D, Casolari, E, Furth, S L, Warady, B A, Gucev, Z, Hakonarson, H, Flogelova, H, Tasic, V, Latos-Bielenska, A, Materna-Kiryluk, A, Allegri, L, Wong, C S, Drummond, I A, D'Agati, V, Imamoto, A, Barasch, J M, Hildebrandt, F, Kiryluk, K, Lifton, R P, Morrow, B E, Jeanpierre, C, Papaioannou, V E, Ghiggeri, G M, Gharavi, A G, Katsanis, N & Sanna-Cherchi, S 2017, ' Genetic drivers of kidney defects in the digeorge syndrome ', New England Journal of Medicine, vol. 376, no. 8, pp. 742-754 . https://doi.org/10.1056/NEJMoa1609009
New England Journal of Medicine
New England Journal of Medicine, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
New England Journal of Medicine, Massachusetts Medical Society, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
The New England journal of medicine
376 (2017): 742–754. doi:10.1056/NEJMoa1609009
info:cnr-pdr/source/autori:Lopez-Rivera, E.; Liu, Y. P.; Verbitsky, M.; Anderson, B. R.; Capone, V. P.; Otto, E. A.; Yan, Z.; Mitrotti, A.; Martino, J.; Steers, N. J.; Fasel, D. A.; Vukojevic, K.; Deng, R.; Racedo, S. E.; Liu, Q.; Werth, M.; Westland, R.; Vivante, A.; Makar, G. S.; Bodria, M.; Sampson, M. G.; Gillies, C. E.; Vega-Warner, V.; Maiorana, M.; Petrey, D. S.; Honig, B.; Lozanovski, V. J.; Salomon, R.; Heidet, L.; Carpentier, W.; Gaillard, D.; Carrea, A.; Gesualdo, L.; Cusi, D.; Izzi, C.; Scolari, F.; van Wijk, J. A. E.; Arapovic, A.; Saraga-Babic, M.; Saraga, M.; Kunac, N.; Samii, A.; McDonald-McGinn, D. M.; Crowley, T. B.; Zackai, E. H.; Drozdz, D.; Miklaszewska, M.; Tkaczyk, M.; Sikora, P.; Szczepanska, M.; Mizerska-Wasiak, M.; Krzemien, G.; Szmigielska, A.; Zaniew, M.; Darlow, J. M.; Puri, P.; Barton, D.; Casolari, E.; Furth, S. L.; Warady, B. A.; Gucev, Z.; Hakonarson, H.; Flogelova, H.; Tasic, V.; Latos-Bielenska, A.; Materna-Kiryluk, A.; Allegri, L.; Wong, C. S.; Drummond, I. A.; D'Agati, V.; Imamoto, A.; Barasch, J. M.; Hildebrandt, F.; Kiryluk, K.; Lifton, R. P.; Morrow, B. E.; Jeanpierre, C.; Papaioannou, V. E.; Ghiggeri, G. M.; Gharavi, A. G.; Katsanis, N.; Sanna-Cherchi, S./titolo:Genetic Drivers of Kidney Defects in the DiGeorge Syndrome/doi:10.1056%2FNEJMoa1609009/rivista:The New England journal of medicine (Print)/anno:2017/pagina_da:742/pagina_a:754/intervallo_pagine:742–754/volume:376
Lopez-Rivera, E, Liu, Y P, Verbitsky, M, Anderson, B R, Capone, V P, Otto, E A, Yan, Z, Mitrotti, A, Martino, J, Steers, N J, Fasel, D A, Vukojevic, K, Deng, R, Racedo, S E, Liu, Q, Werth, M, Westland, R, Vivante, A, Makar, G S, Bodria, M, Sampson, M G, Gillies, C E, Vega-Warner, V, Maiorana, M, Petrey, D S, Honig, B, Lozanovski, V J, Salomon, R, Heidet, L, Carpentier, W, Gaillard, D, Carrea, A, Gesualdo, L, Cusi, D, Izzi, C, Scolari, F, Van Wijk, J A E, Arapovic, A, Saraga-Babic, M, Saraga, M, Kunac, N, Samii, A, McDonald-McGinn, D M, Crowley, T B, Zackai, E H, Drozdz, D, Miklaszewska, M, Tkaczyk, M, Sikora, P, Szczepanska, M, Mizerska-Wasiak, M, Krzemien, G, Szmigielska, A, Zaniew, M, Darlow, J M, Puri, P, Barton, D, Casolari, E, Furth, S L, Warady, B A, Gucev, Z, Hakonarson, H, Flogelova, H, Tasic, V, Latos-Bielenska, A, Materna-Kiryluk, A, Allegri, L, Wong, C S, Drummond, I A, D'Agati, V, Imamoto, A, Barasch, J M, Hildebrandt, F, Kiryluk, K, Lifton, R P, Morrow, B E, Jeanpierre, C, Papaioannou, V E, Ghiggeri, G M, Gharavi, A G, Katsanis, N & Sanna-Cherchi, S 2017, ' Genetic drivers of kidney defects in the digeorge syndrome ', New England Journal of Medicine, vol. 376, no. 8, pp. 742-754 . https://doi.org/10.1056/NEJMoa1609009
New England Journal of Medicine
New England Journal of Medicine, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
New England Journal of Medicine, Massachusetts Medical Society, 2017, 376 (8), pp.742-754. ⟨10.1056/NEJMoa1609009⟩
The New England journal of medicine
376 (2017): 742–754. doi:10.1056/NEJMoa1609009
info:cnr-pdr/source/autori:Lopez-Rivera, E.; Liu, Y. P.; Verbitsky, M.; Anderson, B. R.; Capone, V. P.; Otto, E. A.; Yan, Z.; Mitrotti, A.; Martino, J.; Steers, N. J.; Fasel, D. A.; Vukojevic, K.; Deng, R.; Racedo, S. E.; Liu, Q.; Werth, M.; Westland, R.; Vivante, A.; Makar, G. S.; Bodria, M.; Sampson, M. G.; Gillies, C. E.; Vega-Warner, V.; Maiorana, M.; Petrey, D. S.; Honig, B.; Lozanovski, V. J.; Salomon, R.; Heidet, L.; Carpentier, W.; Gaillard, D.; Carrea, A.; Gesualdo, L.; Cusi, D.; Izzi, C.; Scolari, F.; van Wijk, J. A. E.; Arapovic, A.; Saraga-Babic, M.; Saraga, M.; Kunac, N.; Samii, A.; McDonald-McGinn, D. M.; Crowley, T. B.; Zackai, E. H.; Drozdz, D.; Miklaszewska, M.; Tkaczyk, M.; Sikora, P.; Szczepanska, M.; Mizerska-Wasiak, M.; Krzemien, G.; Szmigielska, A.; Zaniew, M.; Darlow, J. M.; Puri, P.; Barton, D.; Casolari, E.; Furth, S. L.; Warady, B. A.; Gucev, Z.; Hakonarson, H.; Flogelova, H.; Tasic, V.; Latos-Bielenska, A.; Materna-Kiryluk, A.; Allegri, L.; Wong, C. S.; Drummond, I. A.; D'Agati, V.; Imamoto, A.; Barasch, J. M.; Hildebrandt, F.; Kiryluk, K.; Lifton, R. P.; Morrow, B. E.; Jeanpierre, C.; Papaioannou, V. E.; Ghiggeri, G. M.; Gharavi, A. G.; Katsanis, N.; Sanna-Cherchi, S./titolo:Genetic Drivers of Kidney Defects in the DiGeorge Syndrome/doi:10.1056%2FNEJMoa1609009/rivista:The New England journal of medicine (Print)/anno:2017/pagina_da:742/pagina_a:754/intervallo_pagine:742–754/volume:376
International audience; Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic
Autor:
Qingxue Liu, Marcin Tkaczyk, Susan L. Furth, Friedhelm Hildebrandt, Adele Mitrotti, Gian Marco Ghiggeri, Max Werth, Landino Allegri, Daniele Cusi, David Fasel, Nan Wu, Brynn Levy, Francesco Scolari, Joanna A.E. van Wijk, Marijan Saraga, Daria Tomczyk, Pasquale Casale, Piotr Adamczyk, Loreto Gesualdo, Giovanni Conti, Przemysław Sikora, Anna Materna-Kiryluk, Prem Puri, Erin L. Heinzen, Claudia Izzi, Domenico Santoro, Anna Krakowska, Isabella Pisani, Miguel Verbitsky, Mark G Dobson, Priya Krithivasan, Cathy Mendelsohn, Maria K Borszewska-Kornacka, Tomasz Jarmoliński, Jeremiah Martino, Dina Ahram, Maddalena Gigante, Zoran Gucev, Patricia L. Weng, Débora Marques de Miranda, Katarzyna Zachwieja, Tze Y Lim, Dorota Drozdz, Shirlee Shril, Maddalena Marasa, Valentina P Capone, Grażyna Krzemień, Marcin Zaniew, Velibor Tasic, Krzysztof Kiryluk, Alba Carrea, Craig S. Wong, Byum Hee Kil, Lida Rodas, Shumyle Alam, Giuseppe Masnata, Monica Bodria, Rik Westland, Bradley A. Warady, Alejandra Perez, David E. Barton, Hakon Hakonarson, Monika Miklaszewska, Vladimir J Lozanovski, Young Ji Na, John M Darlow, Simone Sanna-Cherchi, Ana Cristina Simões-e-Silva, Pasquale Zamboli, Hope White, Jun Zhang, Fangming Lin, Anna Latos-Bielenska, Eduardo A. Oliveira, Charlly Kao, Maria Szczepańska, Jonathan Barasch, Asaf Vivante, Valeria Manca, Ali G. Gharavi, Feng Zhang, Robert Pawluch, Agnieszka Szmigielska, Matthew G. Sampson, Giorgio Piaggio, Josep M. Campistol, Cécile Jeanpierre, Virginia E. Papaioannou, Ekaterina Batourina, Małgorzata Mizerska-Wasiak
Publikováno v:
Nature Genetics. 51:764-764
In the version of this article initially published, affiliation 38 incorrectly read “ICNU-Nephrology and Urology Department, Barcelona, Spain”; “Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain” is the corre
Publikováno v:
Clinical Journal of the American Society of Nephrology. 2:S25-S35
In recent years, the sequencing of mammalian and microbial genomes has provided the opportunity to study how genetic variation in the host and pathogen influence the course of infectious disease. In the case of HIV-1 infection, such studies have led
Autor:
Joseph E. LeDoux, Patrick R. Hof, John H. Morrison, Jeremiah Martino, Raphael Lamprecht, William G.M. Janssen, Luke R. Johnson, Jason J. Radley
Publikováno v:
European Journal of Neuroscience. 24:876-884
Changes in dendritic spine number and shape are believed to reflect structural plasticity consequent to learning. Previous studies have strongly suggested that the dorsal subnucleus of the lateral amygdala is an important site of physiological plasti
Autor:
Vivette D. D'Agati, Ka Tak Chan, Ali G. Gharavi, Jeremiah Martino, Zongyu Zheng, Shun Mei Liu, Streamson C. Chua, Ruijie Liu, Katalin Susztak, Yifu Li
Publikováno v:
Kidney international. 78(5)
Most mouse models of diabetes do not fully reproduce features of human diabetic nephropathy, limiting their utility in inferring mechanisms of human disease. Here we performed detailed phenotypic and genetic characterization of leptin-receptor (Lepr)
Autor:
Zongyu Zheng, Ali G. Gharavi, Rachelle Z. Frankel, Vivette D. D'Agati, Richard P. Lifton, Paul E. Klotman, Ka T. Chan, Jeremiah Martino, Natalia Papeta
Publikováno v:
Kidney international. 75(4)
HIV-1 transgenic mice on the FVB/NJ background (TgFVB) are a well validated model of HIV-associated nephropathy (HIVAN). A mapping study between TgFVB and CAST/EiJ (CAST) strains showed this trait to be influenced by a major susceptibility locus on c