Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT. METHODS: We applied whole-exome sequencing to analyz...

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Publicado en:J Am Soc Nephrol
Main Authors: van der Ven, Amelie T., Connaughton, Dervla M., Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-yang, Schulz, Julian, Braun, Daniela A., Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K., Daga, Ankana, Majmundar, Amar J., Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A., Hugo, Hannah, Kitzler, Thomas M., Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R., Baum, Michelle A., Somers, Michael J.G., Rodig, Nancy M., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S., Eid, Loai A., Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Wilson, Michael W., Mane, Shrikant M., Lifton, Richard P., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Reutter, Heiko M., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado: American Society of Nephrology 2018
Assuntos:
Basic Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6115658/
https://ncbi.nlm.nih.gov/pubmed/30143558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2017121265
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