The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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

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

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f1b5da3f4139cc905ca7e6de1a725ce
https://pubmed.ncbi.nlm.nih.gov/28456345

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development

Autor: Rebecca Darlay, Manuela Hunziker, Prem Puri, Cliona Molony, Mark G Dobson, David E. Barton, John M Darlow, Andrew Green, Heather J. Cordell

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 7-29 (2014)
Molecular Genetics & Genomic Medicine

Primary vesicoureteric reflux (VUR), the retrograde flow of urine from the bladder toward the kidneys, results from a developmental anomaly of the vesicoureteric valve mechanism, and is often associated with other urinary tract anomalies. It is the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa4fea15f877b30904c8197254a860d7
https://doi.org/10.1002/mgg3.22

VH replacement in rearranged immunoglobulin genes

Autor: John M Darlow, David I. Stott

Publikováno v: Immunology. 114:155-165

Examples suggesting that all or part of the V(H) segment of a rearranged V(H)DJ(H) may be replaced by all or part of another V(H) have been appearing since the 1980s. Evidence has been presented of two rather different types of replacement. One of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8da4209179111c5a269f54e335aad47
https://doi.org/10.1111/j.1365-2567.2004.02084.x

Secondary structures in d(CGG) and d(CCG) repeat tracts 1 1Edited by I. Tinoco

Autor: David R. F. Leach, John M Darlow

Publikováno v: Journal of Molecular Biology. 275:3-16

Several studies have been made to elucidate the nature of secondary structures in the single strands of d(CGG)·d(CCG) repeat tracts but with conflicting conclusions. Here, we review this work and attempt to come towards consensus. Some investigators

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f8bb9af88c8b4ff8d6e71a9b0441fbab
https://doi.org/10.1006/jmbi.1997.1453