Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related disease mechanisms. However, for most cases the under...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Vivante, Asaf, Kleppa, Marc-Jens, Schulz, Julian, Kohl, Stefan, Sharma, Amita, Chen, Jing, Shril, Shirlee, Hwang, Daw-Yang, Weiss, Anna-Carina, Kaminski, Michael M., Shukrun, Rachel, Kemper, Markus J., Lehnhardt, Anja, Beetz, Rolf, Sanna-Cherchi, Simone, Verbitsky, Miguel, Gharavi, Ali G., Stuart, Helen M., Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Woolf, Adrian S., Westra, Sjirk J., Doody, Daniel P., Bauer, Stuart B., Lee, Richard S., Adam, Rosalyn M., Lu, Weining, Reutter, Heiko M., Kehinde, Elijah O., Mancini, Erika J., Lifton, Richard P., Tasic, Velibor, Lienkamp, Soeren S., Jüppner, Harald, Kispert, Andreas, Hildebrandt, Friedhelm
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2015
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862256/
https://ncbi.nlm.nih.gov/pubmed/26235987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.07.001
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