SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant developmental disorder characterized by hearing loss. In branchio-oto-renal (BOR) syndrome, malformations of the kidney or ur...

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Autori principali: Ruf, Rainer G., Xu, Pin-Xian, Silvius, Derek, Otto, Edgar A., Beekmann, Frank, Muerb, Ulla T., Kumar, Shrawan, Neuhaus, Thomas J., Kemper, Markus J., Raymond, Richard M., Brophy, Patrick D., Berkman, Jennifer, Gattas, Michael, Hyland, Valentine, Ruf, Eva-Maria, Schwartz, Charles, Chang, Eugene H., Smith, Richard J. H., Stratakis, Constantine A., Weil, Dominique, Petit, Christine, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2004
Soggetti:
Biological Sciences
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC419562/
https://ncbi.nlm.nih.gov/pubmed/15141091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0308475101
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