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Nature Genetics, ISSN 1061-4036, 08/2011, Volume 43, Issue 8, pp. 776 - 784
Journal Article
Nature Cell Biology, ISSN 1465-7392, 01/2012, Volume 14, Issue 1, pp. 61 - 72
Using RNAi screening, proteomics, cell biological and mouse genetics approaches, we have identified a complex of nine proteins, seven of which are disrupted in... 
DISEASE GENES | REGULATOR | OUTER SEGMENT DEVELOPMENT | DISRUPTION | MKS1 | GENERATION | CILIOGENESIS | PROTEINS | CC2D2A | BODY | CELL BIOLOGY | Synthesis | RNA | Cilia and ciliary motion | Growth | Genetic aspects | Cellular signal transduction | Research | Properties | Membrane proteins
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2017, Volume 216, Issue 1, pp. 247 - 263
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is... 
JOUBERT-SYNDROME | CELLS | HEDGEHOG PATHWAY | INOSITOL-POLYPHOSPHATE 5-PHOSPHATASE | CANDIDA-ALBICANS | FLOOR PLATE | PROTEIN-COUPLED RECEPTOR | MUTATIONS | PLASMA-MEMBRANE | TUMOR-ANTIGEN | CELL BIOLOGY | Phosphatidylinositol Phosphates - metabolism | Eye Abnormalities - enzymology | Humans | Zinc Finger Protein Gli2 | Phosphoric Monoester Hydrolases - deficiency | Hedgehog Proteins - metabolism | Cerebellum - enzymology | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Smoothened Receptor - genetics | Phosphatidylinositol 4,5-Diphosphate - metabolism | Transfection | Hedgehog Proteins - genetics | Time Factors | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Retina - enzymology | Kidney Diseases, Cystic - genetics | Cilia - enzymology | Embryo, Mammalian - enzymology | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - enzymology | Second Messenger Systems | Disease Models, Animal | Cell Line | Genetic Predisposition to Disease | Phosphoric Monoester Hydrolases - genetics | Mice, Inbred C57BL | Retinal Pigment Epithelium - enzymology | Eye Abnormalities - genetics | Mice, Knockout | Phenotype | Animals | Retina - abnormalities | Abnormalities, Multiple - enzymology | Phosphoric Monoester Hydrolases - metabolism | Kruppel-Like Transcription Factors - genetics | Physiological aspects | Phosphoinositides | Cell research | Research | Cilia and ciliary motion | Cellular control mechanisms
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Journal Article
Journal of Cell Science, ISSN 0021-9533, 08/2018, Volume 131, Issue 16
Cilia are cellular antennae that are essential for human development and physiology. A large number of genetic disorders linked to cilium dysfunction are... 
PtdIns(4,5)P | Skittles | Cep290 | Transition zone | Basal body | Cilia | CELLS | EXOCYST | PLASMA-MEMBRANE | PHOSPHOINOSITIDES | CENTRIOLE DUPLICATION | MICROTUBULE ORGANIZATION | CELL BIOLOGY | IN-VITRO | CILIARY PROTEIN TRAFFICKING | PIPKI-GAMMA | PtdIns(4,5) P-2 | CILIOGENESIS
Journal Article
Journal Article
Journal Article
Journal Article
Nature Cell Biology, ISSN 1465-7392, 08/2018, Volume 20, Issue 8, pp. 928 - 941
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2016, Volume 113, Issue 35, pp. E5135 - E5143
Journal Article
Cilia, ISSN 2046-2530, 07/2012, Volume 1, Issue 1, p. 10
Recent studies of the primary cilium have begun to provide further insights into ciliary ultrastructure, with an emerging picture of complex... 
Ciliopathies | Transition zone | IFT | Cilia | Proteins | Cellular proteins | Cilia and ciliary motion
Journal Article