Article
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Human molecular genetics - 1 Jun 2013
Frank Valeska, Habbig Sandra, Bartram Malte P, Eisenberger Tobias, Veenstra-Knol Hermine E, Decker Christian, Boorsma Reinder A C, Göbel Heike, Nürnberg Gudrun, Griessmann Anabel, Franke Mareike, Borgal Lori, Kohli Priyanka, Völker Linus A, Dötsch Jörg, Nürnberg Peter, Benzing Thomas, Bolz Hanno J, Johnson Colin, Gerkes Erica H, Schermer Bernhard, Bergmann Carsten
Abstract excerpt
Mutations affecting the integrity and function of cilia have been identified in various genes over the last decade accounting for a group of diseases called ciliopathies. Ciliopathies display a broad spectrum of phenotypes ranging from mild manifestations to lethal combinations of multiple severe symptoms and most of them share cystic kidneys as a common feature. Our starting point was a consanguineous pedigree...
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