Academic Journal
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y)
| العنوان: | Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y) |
|---|---|
| المؤلفون: | Verbitsky M., Westland R., Perez A., Kiryluk K., Liu Q., Krithivasan P., Mitrotti A., Fasel D. A., Batourina E., Sampson M. G., Bodria M., Werth M., Kao C., Martino J., Capone V. P., Vivante A., Shril S., Kil B. H., Marasa M., Zhang J. Y., Na Y. -J., Lim T. Y., Ahram D., Weng P. L., Heinzen E. L., Carrea A., Piaggio G., Gesualdo L., Manca V., Masnata G., Gigante M., Cusi D., Izzi C., Scolari F., van Wijk J. A. E., Saraga M., Santoro D., Conti G., Zamboli P., White H., Drozdz D., Zachwieja K., Miklaszewska M., Tkaczyk M., Tomczyk D., Krakowska A., Sikora P., Jarmolinski T., Borszewska-Kornacka M. K., Pawluch R., Szczepanska M., Adamczyk P., Mizerska-Wasiak M., Krzemien G., Szmigielska A., Zaniew M., Dobson M. G., Darlow J. M., Puri P., Barton D. E., Furth S. L., Warady B. A., Gucev Z., Lozanovski V. J., Tasic V., Pisani I., Allegri L., Rodas L. M., Campistol J. M., Jeanpierre C., Alam S., Casale P., Wong C. S., Lin F., Miranda D. M., Oliveira E. A., Simoes-e-Silva A. C., Barasch J. M., Levy B., Wu N., Hildebrandt F., Ghiggeri G. M., Latos-Bielenska A., Materna-Kiryluk A., Zhang F., Hakonarson H., Papaioannou V. E., Mendelsohn C. L., Gharavi A. G., Sanna-Cherchi S. |
| المساهمون: | Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Na, Y. -J., Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmolinski, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., Sanna-Cherchi, S. |
| سنة النشر: | 2019 |
| المجموعة: | Università degli Studi di Messina: IRIS |
| مصطلحات موضوعية: | cakut, renal, genetics |
| الوصف: | 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 (that is, 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; and 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/30816350; info:eu-repo/semantics/altIdentifier/wos/WOS:000462767500023; volume:51; issue:4; firstpage:764; lastpage:764; numberofpages:1; journal:NATURE GENETICS; http://hdl.handle.net/11570/3148929; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062447067; http://www.nature.com/ng/index.html |
| DOI: | 10.1038/s41588-019-0376-0 |
| الاتاحة: | http://hdl.handle.net/11570/3148929 https://doi.org/10.1038/s41588-019-0376-0 http://www.nature.com/ng/index.html |
| رقم الانضمام: | edsbas.22CB88B8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41588-019-0376-0 |
|---|