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Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Journal of Molecular Evolution, ISSN 0022-2844, 2011, Volume 73, Issue 3, pp. 209 - 220
The TOR kinase is a major regulator of growth in eukaryotes. Many components of the TOR pathway are implicated in cancer and metabolic diseases in humans.... 
Life Sciences | Microbiology | Rheb | TOR | Pathway evolution | TSC1-2 complex | Evolutionary Biology | AGC kinases | Plant Sciences | Cell Biology | Animal Genetics and Genomics | Plant Genetics & Genomics | FISSION YEAST | PROTEIN-KINASE-B | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL-GROWTH | SACCHAROMYCES-CEREVISIAE | TRANSLATIONAL CONTROL | EVOLUTIONARY BIOLOGY | CAENORHABDITIS-ELEGANS | TUMOR-SUPPRESSOR COMPLEX | GENETICS & HEREDITY | RIBOSOMAL S6 KINASE | TUBEROUS SCLEROSIS | SCHIZOSACCHAROMYCES-POMBE | Fungal Proteins - chemistry | Gene Duplication | Amino Acid Sequence | Transcription Factors - chemistry | Humans | Gene Expression Regulation | Multiprotein Complexes - genetics | Signal Transduction - genetics | Fungal Proteins - genetics | Phylogeny | Transcription Factors - genetics | Gene Regulatory Networks | Protozoan Proteins - genetics | Sequence Homology, Amino Acid | Animals | TOR Serine-Threonine Kinases - genetics | TOR Serine-Threonine Kinases - chemistry | Conserved Sequence | Protozoan Proteins - chemistry | Models, Genetic | Evolution, Molecular | Oncology, Experimental | Analysis | Evolution | Universities and colleges | Research | Phosphotransferases | Cancer | Genetics | Eukaryotes | Evolutionary biology | Kinases | Molecular biology | Signal transduction | protein-serine kinase | molecular evolution | Metabolic disorders
Journal Article
Genome Biology, ISSN 1474-7596, 2015, Volume 16, Issue 1, p. 293
BACKGROUND: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of... 
KIAA0556 | Joubert syndrome | Katanin | K04F10.2 | Microtubule | Basal body | Cilia | PROTEIN | PRIMARY CILIUM | FLAGELLAR LENGTH CONTROL | CAENORHABDITIS-ELEGANS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | CILIOPATHY | MUTATIONS | CILIOGENESIS | INTRAFLAGELLAR TRANSPORT | MOLECULAR-BASIS | Abnormalities, Multiple - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Child, Preschool | Male | Cerebellum - abnormalities | Brain - metabolism | Exome | Microtubules - metabolism | Basal Bodies - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | ADP-Ribosylation Factors - metabolism | Child | Abnormalities, Multiple - genetics | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Mice, Inbred C57BL | Cells, Cultured | Adenosine Triphosphatases - metabolism | Eye Abnormalities - genetics | Basal Bodies - metabolism | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Animals | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Brain - pathology | Protein Binding | Mice | Mutation | Retina - pathology | Cerebellum | Brain | Phenotypes | Nuclear magnetic resonance--NMR | Kidneys | Disease | Congenital defects | Teeth | Neurodevelopmental disorders | Defects | Proteins | Microtubules | Fibroblasts | Nematodes | Growth hormones | Research
Journal Article
Cilia, ISSN 2046-2530, 2013, Volume 2, Issue 1, pp. 7 - 7
The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to... 
Journal Article
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