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Nature Reviews Molecular Cell Biology, ISSN 1471-0072, 11/2007, Volume 8, Issue 11, pp. 880 - 893
Defects in the function of cellular organelles such as peroxisomes, lysosomes and mitochondria are well-known causes of human diseases. Recently, another... 
CHLAMYDOMONAS | CELL BIOLOGY | Reproduction | Animals | Cilia - pathology | Ciliary Motility Disorders - pathology | Humans | Body Patterning | Organ Specificity | Cysts - pathology | Cilia - metabolism | Physiological aspects | Research | Cilia and ciliary motion | Abnormalities | Membrane proteins
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 03/2011, Volume 192, Issue 6, pp. 1023 - 1041
Journal Article
Journal Article
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, p. 242
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
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS)... 
Polycystic Kidney Diseases - genetics | Humans | Hedgehog Proteins - metabolism | Mice, 129 Strain | Cerebellum - abnormalities | Encephalocele - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Dishevelled Proteins | Eye Abnormalities - metabolism | Wnt Signaling Pathway | Disease Models, Animal | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Membrane Proteins - genetics | Abnormalities, Multiple | Mice, Knockout | Kidney Diseases, Cystic - metabolism | Luciferases, Firefly - biosynthesis | Phenotype | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Mice | Retina - pathology | Retina - metabolism | Neural Tube Defects - genetics | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genes, Reporter | Encephalocele - genetics | Cilia - pathology | Mice, Inbred C57BL | Gene Expression Regulation | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Protein Transport | Animals | Cerebellar Diseases - genetics | Encephalocele - pathology | Retina - abnormalities | Luciferases, Firefly - genetics | Ciliary Motility Disorders - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Body Patterning - genetics | Ciliary Motility Disorders - genetics
Journal Article