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Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
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
Osteoarthritis and Cartilage, ISSN 1063-4584, 07/2019, Volume 27, Issue 7, pp. 1064 - 1074
Physiological mechanical loading reduces inflammatory signalling in numerous cell types including articular chondrocytes however the mechanism responsible... 
Tubulin | Chondrocyte | IL-1β | Primary cilia | IFT | HDAC6 | PRESSURE-INDUCED STRAIN | TISSUE STRAIN | MICROTUBULES | IL-1 beta | COMPRESSION | RHEUMATOLOGY | ENDOTHELIAL PRIMARY CILIA | CHONDROCYTE DEFORMATION | ARTICULAR-CARTILAGE | NITRIC-OXIDE | STRESS | ORTHOPEDICS | ALPHA-5-BETA-1 INTEGRIN | Interleukins | Tubulins | Nitric oxide
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
Nature Communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, p. 14279
Journal Article
Lung, ISSN 0341-2040, 4/2018, Volume 196, Issue 2, pp. 231 - 238
Primary ciliary dyskinesia (PCD) is characterised by repeated upper and lower respiratory tract infections, neutrophilic airway inflammation and obstructive... 
Ciliopathy | Pneumology/Respiratory System | Lung function | Medicine & Public Health | Rare disease | Paediatrics | DIAGNOSIS | MANAGEMENT | PHENOTYPE | SPIROMETRY | COMPUTED-TOMOGRAPHY | MULTIPLE | CHILDREN | INERT-GAS WASHOUT | RESPIRATORY SYSTEM | DISEASE | CYSTIC-FIBROSIS | Spirometry | Ciliary Motility Disorders - physiopathology | Age Factors | Humans | Child, Preschool | Infant | Male | Lung Diseases - etiology | Forced Expiratory Volume | Young Adult | Ciliary Motility Disorders - complications | Microtubules - ultrastructure | Cilia - ultrastructure | Lung - ultrastructure | Adult | Female | Child | Infant, Newborn | Microscopy, Electron, Transmission | Risk Factors | Mucociliary Clearance | Lung - physiopathology | Ciliary Motility Disorders - pathology | Adolescent | Lung Diseases - physiopathology | Lung Diseases - pathology | Maximal Midexpiratory Flow Rate | Ciliary Motility Disorders - genetics | Respiratory tract infections | Complications and side effects | Care and treatment | Research | Diagnosis | Movement disorders | Risk factors | Respiratory function | Lung diseases | Health risks | Leukocytes (neutrophilic) | Minority & ethnic groups | Disease control | Patients | Genetic screening | Defects | Respiratory tract | Primary ciliary dyskinesia | Ultrastructure | Obstructive lung disease | Dynein | Ventilation | Respiratory tract diseases | Pseudomonas aeruginosa | Inhomogeneity | Health risk assessment | Risk management | Age | Dyskinesia | Cilia | Respiratory Physiology
Journal Article