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The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Nature genetics, 51 (2019), 1; 117-127. https://doi.org/10.1038/s41588-018-0281-y
Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasà, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmoliński, Tomasz; Borszewska- Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cécile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Débora M.; Oliveira, Eduardo A.; Simões-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna- Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone Više autora...

Institucijski repozitorij: Repozitorij Medicinskog fakulteta u Rijeci

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Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P. ... Sanna Cherchi, S. (2019). The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics, 51. (1), 117-127. doi: 10.1038/s41588-018-0281-y

Verbitsky, Miguel, et al. "The copy number variation landscape of congenital anomalies of the kidney and urinary tract." Nature genetics, vol. 51, br. 1, 2019, str. 117-127. https://doi.org/10.1038/s41588-018-0281-y

Verbitsky, Miguel, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, et al. "The copy number variation landscape of congenital anomalies of the kidney and urinary tract." Nature genetics 51, br. 1 (2019): 117-127. https://doi.org/10.1038/s41588-018-0281-y

Verbitsky, M., et al. (2019) 'The copy number variation landscape of congenital anomalies of the kidney and urinary tract', Nature genetics, 51(1), str. 117-127. doi: 10.1038/s41588-018-0281-y

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, i sur.. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics [Internet]. 2019. [pristupljeno 27.12.2024.];51(1):117-127. doi: 10.1038/s41588-018-0281-y

M. Verbitsky, et al., "The copy number variation landscape of congenital anomalies of the kidney and urinary tract", Nature genetics, vol. 51, br. 1, str. 117-127, 2019. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:595940. [Citirano: 27.12.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:184:595940
Podaci o radu
Naslov (engleski)The copy number variation landscape of congenital anomalies of the kidney and urinary tract
AutorMiguel Verbitsky
AutorRik Westland
AutorAlejandra Perez
AutorKrzysztof Kiryluk
AutorQingxue Liu
AutorPriya Krithivasan
AutorAdele Mitrotti
AutorDavid A. Fasel
AutorEkaterina Batourina
AutorMatthew G. Sampson
AutorMonica Bodria
AutorMax Werth
AutorCharlly Kao
AutorJeremiah Martino
AutorValentina P. Capone
AutorAsaf Vivante
AutorShirlee Shril
AutorByum Hee Kil
AutorMaddalena Marasà
AutorJun Y. Zhang
AutorYoung-Ji Na
AutorTze Y. Lim
AutorDina Ahram
AutorPatricia L. Weng
AutorErin L. Heinzen
AutorAlba Carrea
AutorGiorgio Piaggio
AutorLoreto Gesualdo
AutorValeria Manca
AutorGiuseppe Masnata
AutorMaddalena Gigante
AutorDaniele Cusi
AutorClaudia Izzi
AutorFrancesco Scolari
AutorJoanna A. E. van Wijk
AutorMarijan Saraga
AutorDomenico Santoro
AutorGiovanni Conti
AutorPasquale Zamboli
AutorHope White
AutorDorota Drozdz
AutorKatarzyna Zachwieja
AutorMonika Miklaszewska
AutorMarcin Tkaczyk
AutorDaria Tomczyk
AutorAnna Krakowska
AutorPrzemyslaw Sikora
AutorTomasz Jarmoliński
AutorMaria K. Borszewska- Kornacka
AutorRobert Pawluch
AutorMaria Szczepanska
AutorPiotr Adamczyk
AutorMalgorzata Mizerska-Wasiak
AutorGrazyna Krzemien
AutorAgnieszka Szmigielska
AutorMarcin Zaniew
AutorMark G. Dobson
AutorJohn M. Darlow
AutorPrem Puri
AutorDavid E. Barton
AutorSusan L. Furth
AutorBradley A. Warady
AutorZoran Gucev
AutorVladimir J. Lozanovski
AutorVelibor Tasic
AutorIsabella Pisani
AutorLandino Allegri
AutorLida M. Rodas
AutorJosep M. Campistol
AutorCécile Jeanpierre
AutorShumyle Alam
AutorPasquale Casale
AutorCraig S. Wong
AutorFangming Lin
AutorDébora M. Miranda
AutorEduardo A. Oliveira
AutorAna Cristina Simões-e-Silva
AutorJonathan M. Barasch
AutorBrynn Levy
AutorNan Wu
AutorFriedhelm Hildebrandt
AutorGian Marco Ghiggeri
AutorAnna Latos-Bielenska
AutorAnna Materna- Kiryluk
AutorFeng Zhang
AutorHakon Hakonarson
AutorVirginia E. Papaioannou
AutorCathy L. Mendelsohn
AutorAli G. Gharavi
AutorSimone Sanna-Cherchi
Autorova ustanovaSveučilište u Rijeci
Medicinski fakultet
(Katedra za pedijatriju)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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 (i.e. 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 ; 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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaNature genetics
Brojčani podacivol. 51, br. 1, str. 117-127
p-ISSN1061-4036
DOIhttps://doi.org/10.1038/s41588-018-0281-y
URN:NBNurn:nbn:hr:184:595940
Datum objave publikacije2019
URL dokumentahttp://bib.irb.hr/1050139
Vrsta resursaTekst
Prava pristupaOgraničen pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2022-03-10 14:15:04