prikaz prve stranice dokumenta The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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Scientific paper - Original scientific paper
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 More authors...

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

Cite this document

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, no. 1, 2019, pp. 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, no. 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), pp. 117-127. doi: 10.1038/s41588-018-0281-y

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, and sur.. The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics [Internet]. 2019 [cited 2024 May 01];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, no. 1, pp. 117-127, 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:595940. [Accessed: 01 May 2024]

Metadata
Title (english)The copy number variation landscape of congenital anomalies of the kidney and urinary tract
AuthorMiguel Verbitsky
AuthorRik Westland
AuthorAlejandra Perez
AuthorKrzysztof Kiryluk
AuthorQingxue Liu
AuthorPriya Krithivasan
AuthorAdele Mitrotti
AuthorDavid A. Fasel
AuthorEkaterina Batourina
AuthorMatthew G. Sampson
AuthorMonica Bodria
AuthorMax Werth
AuthorCharlly Kao
AuthorJeremiah Martino
AuthorValentina P. Capone
AuthorAsaf Vivante
AuthorShirlee Shril
AuthorByum Hee Kil
AuthorMaddalena Marasà
AuthorJun Y. Zhang
AuthorYoung-Ji Na
AuthorTze Y. Lim
AuthorDina Ahram
AuthorPatricia L. Weng
AuthorErin L. Heinzen
AuthorAlba Carrea
AuthorGiorgio Piaggio
AuthorLoreto Gesualdo
AuthorValeria Manca
AuthorGiuseppe Masnata
AuthorMaddalena Gigante
AuthorDaniele Cusi
AuthorClaudia Izzi
AuthorFrancesco Scolari
AuthorJoanna A. E. van Wijk
AuthorMarijan Saraga
AuthorDomenico Santoro
AuthorGiovanni Conti
AuthorPasquale Zamboli
AuthorHope White
AuthorDorota Drozdz
AuthorKatarzyna Zachwieja
AuthorMonika Miklaszewska
AuthorMarcin Tkaczyk
AuthorDaria Tomczyk
AuthorAnna Krakowska
AuthorPrzemyslaw Sikora
AuthorTomasz Jarmoliński
AuthorMaria K. Borszewska- Kornacka
AuthorRobert Pawluch
AuthorMaria Szczepanska
AuthorPiotr Adamczyk
AuthorMalgorzata Mizerska-Wasiak
AuthorGrazyna Krzemien
AuthorAgnieszka Szmigielska
AuthorMarcin Zaniew
AuthorMark G. Dobson
AuthorJohn M. Darlow
AuthorPrem Puri
AuthorDavid E. Barton
AuthorSusan L. Furth
AuthorBradley A. Warady
AuthorZoran Gucev
AuthorVladimir J. Lozanovski
AuthorVelibor Tasic
AuthorIsabella Pisani
AuthorLandino Allegri
AuthorLida M. Rodas
AuthorJosep M. Campistol
AuthorCécile Jeanpierre
AuthorShumyle Alam
AuthorPasquale Casale
AuthorCraig S. Wong
AuthorFangming Lin
AuthorDébora M. Miranda
AuthorEduardo A. Oliveira
AuthorAna Cristina Simões-e-Silva
AuthorJonathan M. Barasch
AuthorBrynn Levy
AuthorNan Wu
AuthorFriedhelm Hildebrandt
AuthorGian Marco Ghiggeri
AuthorAnna Latos-Bielenska
AuthorAnna Materna- Kiryluk
AuthorFeng Zhang
AuthorHakon Hakonarson
AuthorVirginia E. Papaioannou
AuthorCathy L. Mendelsohn
AuthorAli G. Gharavi
AuthorSimone Sanna-Cherchi
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleNature genetics
Numberingvol. 51, no. 1, pp. 117-127
p-ISSN1061-4036
DOIhttps://doi.org/10.1038/s41588-018-0281-y
URN:NBNurn:nbn:hr:184:595940
Publication2019
Document URLhttp://bib.irb.hr/1050139
Type of resourceText
Access conditionsRestricted access
Terms of useLicence In copyright icon
Created on2022-03-10 14:15:04