The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

The molecular basis of nephronophthisis 1 , the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome 2 are poorly understood. Using positional cloning, we here identify mutations in...

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Veröffentlicht in:	Nature genetics 2006-06, Vol.38 (6), p.674-681
Hauptverfasser:	Sayer, John A, Otto, Edgar A, O'Toole, John F, Nurnberg, Gudrun, Kennedy, Michael A, Becker, Christian, Hennies, Hans Christian, Helou, Juliana, Attanasio, Massimo, Fausett, Blake V, Utsch, Boris, Khanna, Hemant, Liu, Yan, Drummond, Iain, Kawakami, Isao, Kusakabe, Takehiro, Tsuda, Motoyuki, Ma, Li, Lee, Hwankyu, Larson, Ronald G, Allen, Susan J, Wilkinson, Christopher J, Nigg, Erich A, Shou, Chengchao, Lillo, Concepcion, Williams, David S, Hoppe, Bernd, Kemper, Markus J, Neuhaus, Thomas, Parisi, Melissa A, Glass, Ian A, Petry, Marianne, Kispert, Andreas, Gloy, Joachim, Ganner, Athina, Walz, Gerd, Zhu, Xueliang, Goldman, Daniel, Nurnberg, Peter, Swaroop, Anand, Leroux, Michel R, Hildebrandt, Friedhelm
Format:	Artikel
Sprache:	eng
Schlagworte:	Activating Transcription Factor 4 - genetics Agriculture Animal Genetics and Genomics Animals Antigens, Neoplasm - genetics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Cellular proteins Central nervous system Chromosomes Cloning Danio rerio DNA binding proteins Female Freshwater Fundamental and applied biological sciences. Psychology Gene Function Genetic aspects Genetic disorders Genetic Linkage Genetics of eukaryotes. Biological and molecular evolution Health aspects Human Genetics Humans In Situ Hybridization Joubert syndrome Kidney diseases Kidneys letter Male Malformations of the nervous system Medical sciences Mutation Neoplasm Proteins - genetics Neurology Pedigree Photoreception Physiological aspects Proteins Risk factors Syndrome Young adults Zebrafish
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