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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 | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Proteins | Genotype & phenotype | Zebrafish | Index Medicus | Report
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1027 - 1031
The primary cilium is an antenna-like structure that protrudes from the cell surface of quiescent/differentiated cells and participates in extracellular signal... 
NETWORK | INOSITOL-POLYPHOSPHATE 5-PHOSPHATASE | POLYCYSTIC KIDNEY-DISEASE | BIOLOGY | GENETICS & HEREDITY | DISORDERS | PROTEINS | FIBROBLASTS | Humans | Fluorescent Dyes - metabolism | Culture Media, Serum-Free | Male | Phosphatidylinositol 3-Kinases - metabolism | Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Fibroblasts - ultrastructure | Obesity - genetics | Embryo, Mammalian - metabolism | Intellectual Disability - genetics | Indoles - metabolism | Tubulin - metabolism | Cell Nucleus - metabolism | Transfection | Mice, Mutant Strains | Cilia - ultrastructure | Bardet-Biedl Syndrome - genetics | Chromones - pharmacology | Microsatellite Repeats | Fibroblasts - metabolism | Genetic Linkage | Cell Line | Green Fluorescent Proteins - metabolism | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Receptor, Platelet-Derived Growth Factor alpha - metabolism | Fluorescent Antibody Technique, Direct | Retinal Degeneration - genetics | Cells, Cultured | Enzyme Inhibitors - pharmacology | Morpholines - pharmacology | Mice, Transgenic | Genetic Markers | Cilia - metabolism | Cilia - genetics | Pigment Epithelium of Eye - metabolism | Animals | Embryo, Mammalian - cytology | Signal Transduction - physiology | Fibroblasts - cytology | Mice | Polymorphism, Single Nucleotide | Mutation | Pigment Epithelium of Eye - cytology | Penis - abnormalities | Gene mutations | Genetic aspects | Cellular signal transduction | Research | Health aspects | Risk factors | Brain diseases | Proteins | Tissue | Scanning electron microscopy | Transmission electron microscopy | Cysts | Rodents | Cell division | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2011, Volume 108, Issue 7, pp. 2915 - 2920
Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual... 
Phenotypes | Animal models | Genes | Medical genetics | Genetic loci | Genetic mutation | Embryos | Congenital heart defects | Human genetics | Cilia | Cardiac development | Xenopus tropicalis | Embryo | SITUS-INVERSUS | HETEROTAXY SYNDROME | GREAT-ARTERIES | MULTIDISCIPLINARY SCIENCES | embryo | LEFT-RIGHT ASYMMETRY | PRIMARY CILIARY DYSKINESIA | LEFT-RIGHT AXIS | CARDIOVASCULAR-DISEASE | MICRODUPLICATION 22Q11.2 | PROTEOMIC ANALYSIS | cardiac development | XENOPUS-TROPICALIS | Receptors, Transforming Growth Factor beta - genetics | Xenopus Proteins - genetics | Xenopus - genetics | Homeodomain Proteins - metabolism | Humans | Protein-Serine-Threonine Kinases - genetics | Genotype | DNA Copy Number Variations - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Gene Knockdown Techniques | Nuclear Pore Complex Proteins - genetics | Transcription Factors - metabolism | Heart Defects, Congenital - genetics | Animals | In Situ Hybridization | N-Acetylgalactosaminyltransferases - genetics | Chromosome Aberrations | Gastrula - metabolism | Xenopus Proteins - metabolism | Body Patterning - genetics | Gastrula - embryology | Congenital heart disease | Genetic aspects | Genetic disorders | Research | Frogs | Genotype & phenotype | Fluorescence in situ hybridization | Cardiovascular disease | Mutation | Chromosomes | Index Medicus | Genotyping | copy number | Heart diseases | Fitness | Biological Sciences
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1003977 - e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Index Medicus | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 336 - 345
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here,... 
ASYMMETRY | DEFECTS | MUTANTS | DYSKINESIA | GENETICS & HEREDITY | ARMS | RADIAL SPOKES | MUTATIONS | CHLAMYDOMONAS-FLAGELLA | IDENTIFICATION | INNER | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Data bases | Molecular weight | Defects | Proteins | Microscopy | Proteomics | Mass spectrometry | Index Medicus | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article