Article
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Proceedings of the National Academy of Sciences of the United States of America - 25 May 2004
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
Abstract excerpt
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 urinary tract are associated. Haploinsufficiency for the human gene EYA1, a homologue of the Drosophila gene eyes...
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