Article
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.
Kidney international - 1 May 2011
Marion Vincent, Schlicht Dominique, Mockel Anaïs, Caillard Sophie, Imhoff Olivier, Stoetzel Corinne, van Dijk Paul, Brandt Christian, Moulin Bruno, Dollfus Hélène
Abstract excerpt
Studies of the primary cilium, now known to be present in all cells, have undergone a revolution, in part, because mutation of many of its proteins causes a large number of diseases, including cystic kidney disease. Bardet-Biedl syndrome (BBS) is an inherited ciliopathy characterized, among other dysfunctions, by renal defects for which the precise role of the cilia in kidney function remains unclear. We studied...
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