Pretraga

Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 1050139

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

Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G. et al.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract // Nature genetics, 51 (2019), 1; 117-127 doi:10.1038/s41588-018-0281-y (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1050139 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

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 ; 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

Izvornik
Nature genetics (1061-4036) 51 (2019), 1; 117-127

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
renal replacement therapy ; candidate genes ; vitamin-a ; branching morphogenesis ; genomic disorders ; digeorge-syndrome ; rare variants ; mutations ; disease ; deletion

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Rijeka,
Medicinski fakultet, Split

Profili:

Avatar Url Marijan Saraga (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G. et al.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract // Nature genetics, 51 (2019), 1; 117-127 doi:10.1038/s41588-018-0281-y (međunarodna recenzija, članak, znanstveni)
Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D., Batourina, E. & Sampson, M. (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.
@article{article, author = {Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A. and Batourina, Ekaterina and Sampson, Matthew G. and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P. and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Maras\`{a}, Maddalena and Zhang, Jun Y. and Na, Young-Ji and Lim, Tze Y. and Ahram, Dina and Weng, Patricia L. and Heinzen, Erin L. and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E. and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoli\'{n}ski, Tomasz and Borszewska- Kornacka, Maria K. and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G. and Darlow, John M. and Puri, Prem and Barton, David E. and Furth, Susan L. and Warady, Bradley A. and Gucev, Zoran and Lozanovski, Vladimir J. and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M. and Campistol, Josep M. and Jeanpierre, C\'{e}cile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S. and Lin, Fangming and Miranda, D\'{e}bora M. and Oliveira, Eduardo A. and Sim\~{o}es-e-Silva, Ana Cristina and Barasch, Jonathan M. and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna- Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E. and Mendelsohn, Cathy L. and Gharavi, Ali G. and Sanna-Cherchi, Simone}, year = {2019}, pages = {117-127}, DOI = {10.1038/s41588-018-0281-y}, keywords = {renal replacement therapy, candidate genes, vitamin-a, branching morphogenesis, genomic disorders, digeorge-syndrome, rare variants, mutations, disease, deletion}, journal = {Nature genetics}, doi = {10.1038/s41588-018-0281-y}, volume = {51}, number = {1}, issn = {1061-4036}, title = {The copy number variation landscape of congenital anomalies of the kidney and urinary tract}, keyword = {renal replacement therapy, candidate genes, vitamin-a, branching morphogenesis, genomic disorders, digeorge-syndrome, rare variants, mutations, disease, deletion} }
@article{article, author = {Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A. and Batourina, Ekaterina and Sampson, Matthew G. and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P. and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Maras\`{a}, Maddalena and Zhang, Jun Y. and Na, Young-Ji and Lim, Tze Y. and Ahram, Dina and Weng, Patricia L. and Heinzen, Erin L. and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E. and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoli\'{n}ski, Tomasz and Borszewska- Kornacka, Maria K. and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G. and Darlow, John M. and Puri, Prem and Barton, David E. and Furth, Susan L. and Warady, Bradley A. and Gucev, Zoran and Lozanovski, Vladimir J. and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M. and Campistol, Josep M. and Jeanpierre, C\'{e}cile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S. and Lin, Fangming and Miranda, D\'{e}bora M. and Oliveira, Eduardo A. and Sim\~{o}es-e-Silva, Ana Cristina and Barasch, Jonathan M. and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna- Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E. and Mendelsohn, Cathy L. and Gharavi, Ali G. and Sanna-Cherchi, Simone}, year = {2019}, pages = {117-127}, DOI = {10.1038/s41588-018-0281-y}, keywords = {renal replacement therapy, candidate genes, vitamin-a, branching morphogenesis, genomic disorders, digeorge-syndrome, rare variants, mutations, disease, deletion}, journal = {Nature genetics}, doi = {10.1038/s41588-018-0281-y}, volume = {51}, number = {1}, issn = {1061-4036}, title = {The copy number variation landscape of congenital anomalies of the kidney and urinary tract}, keyword = {renal replacement therapy, candidate genes, vitamin-a, branching morphogenesis, genomic disorders, digeorge-syndrome, rare variants, mutations, disease, deletion} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

Citati:

    Altmetrijski pokazatelji:


    Podijeli:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font
    CROSBI koristi kolačiće (cookies) kako bi poboljšao funkcionalnost stranice.