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Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
by Regueiro, Miguel and Feagan, Brian G and Zou, Bin and Johanns, Jewel and Blank, Marion A and Chevrier, Marc and Plevy, Scott and Popp, John and Cornillie, Freddy J and Lukas, Milan and Danese, Silvio and Gionchetti, Paolo and Hanauer, Stephen B and Reinisch, Walter and Sandborn, William J and Sorrentino, Dario and Rutgeerts, Paul and Debinski, H and Florin, T and Hetzel, D and Lawrance, I and Radford-Smith, G and Sloss, A and Sorrentino, D and Gassner, S and Haas, T and Reicht, G and Reinisch, W and Strasser, M and Vogelsang, H and Bossuyt, P and Dewit, O and D'Haens, G and Franchimont, D and Louis, E and Vermeire, S and Bernstein, C. N and Bourdages, R and Chiba, N and Dhalla, S. S and Feagan, B. G and Fedorak, R. N and Lachance, J. R and Panaccione, R and Ropeleski, M and Singh Salh, B and Lukas, M and Colombel, J.-F and Allez, M and Desreumaux, P and Dupas, J. L and Grimaud, J.-C and Hebuterne, X and Laharie, D and Lerebours, E and Peyrin-Biroulet, L and Reimund, J.-M and Viennot, S and Zerbib, F and Antoni, C and Atreya, R and Baumgart, D. C and Berg, C and Boecker, U and Bramkamp, G and Bünning, C and Ehehalt, R and Howaldt, S and Kucharzik, T and Lamprecht, H. G and Mudter, J and Preiss, J. C and Schreiber, S and Seidler, U and Altorjay, I and Banai, J and Lakatos, P. L and Varga, M and Vincze, A and Avni-Biron, I and Fishman, S and Fraser, G. M and Goldin, E and Rachmilewitz, D and Annese, V and Ardizzone, S and Biancone, L and Bossa, F and Danese, S and Fries, W and Gionchetti, P and Maconi, G and Terrosu, G and Usai, P and Gearry, R. B and Hill, J and Rowbotham, D. S and Schultz, M and Stubbs, R. S and Wallace, D and ... and PREVENT Study Grp and PREVENT Study Group
Gastroenterology, ISSN 0016-5085, 2016, Volume 150, Issue 7, pp. 1568 - 1578
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
Human Mutation, ISSN 1059-7794, 08/2007, Volume 28, Issue 8, pp. 790 - 796
Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all... 
RET | BBS | CCHS | Hirschsprung disease | MWS | modifier gene | WS4 | Modifier gene | Epistasis, Genetic | Gene Frequency | Humans | Alleles | Hirschsprung Disease - genetics | Female | Genotype | Male | Penetrance | Syndrome | Proto-Oncogene Proteins c-ret - genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
by Palles, Claire and Chegwidden, Laura and Li, Xinzhong and Findlay, John M and Farnham, Garry and Castro Giner, Francesc and Peppelenbosch, Maikel P and Kovac, Michal and Adams, Claire L and Prenen, Hans and Briggs, Sarah and Harrison, Rebecca and Sanders, Scott and MacDonald, David and Haigh, Chris and Tucker, Art and Love, Sharon and Nanji, Manoj and Decaestecker, John and Ferry, David and Rathbone, Barrie and Hapeshi, Julie and Barr, Hugh and Moayyedi, Paul and Watson, Peter and Zietek, Barbara and Maroo, Neera and Gay, Laura and Underwood, Tim and Boulter, Lisa and McMurtry, Hugh and Monk, David and Patel, Praful and Ragunath, Krish and Al Dulaimi, David and Murray, Iain and Koss, Konrad and Veitch, Anew and Trudgill, Nigel and Nwokolo, Chuka and Rembacken, Bjorn and Atherfold, Paul and Green, Elaine and Ang, Yeng and Kuipers, Ernst J and Chow, Wu and Paterson, Stuart and Kai, Sudarshan and Beales, Ian and Grimley, Charles and Mullins, Paul and Beckett, Conrad and Farrant, Mark and Dixon, Anew and Kelly, Sean and Johnson, Matthew and Wajed, Shahjehan and Dhar, Anjan and Sawyer, Elinor and Roylance, Rebecca and Onstad, Lynn and Gammon, Marilie D and Corley, Douglas A and Shaheen, Nicholas J and Bird, Nigel C and Hardie, Laura J and Reid, Brian J and Ye, Weimin and Liu, Geoffrey and Romero, Yvonne and Bernstein, Leslie and Wu, Anna H and Casson, Alan G and Fitzgerald, Rebecca and Whiteman, David C and Risch, Harvey A and Levine, David M and Vaughan, Tom L and Verhaar, Auke P and van den Brande, Jan and Toxopeus, Eelke L and Spaander, Manon C and Wijnhoven, Bas P. L and van der Laan, Luc J. W and Krishnadath, Kausilia and Wijmenga, Cisca and Trynka, Gosia and McManus, Ross and Reynolds, John V and O'Sullivan, Jacintha and MacMathuna, Paaic and McGarrigle, Sarah A and Kelleher, Dermot and Vermeire, Severine and Cleynen, Isabelle and Bisschops, Raf and Tomlinson, Ian and Jankowski, Janusz
Gastroenterology, ISSN 0016-5085, 2015, Volume 148, Issue 2, pp. 367 - 378
Journal Article
Journal of Immunological Methods, ISSN 0022-1759, 01/2012, Volume 375, Issue 1-2, pp. 182 - 188
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/1999, Volume 36, Issue 6, pp. 437 - 446
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental... 
Heterozygotes | Renal malformation | Bardet-Biedl syndrome | Diagnosis | OBESITY | FAMILIES | GENETICS & HEREDITY | PHENOTYPE | diagnosis | heterozygotes | RENAL-DISEASE | renal malformation | LINKAGE | SYNDROME LOCUS | Cataracts | Obesity | Congenital diseases | Intellectual disabilities | Mortality | Cardiovascular disease | Males | Patients | Cysts | Questionnaires | Speech | Ataxia | Learning disabilities | Society | Diabetes | Age | Astigmatism
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2012, Volume 122, Issue 4, pp. 1233 - 1245
Cilia are highly specialized microtubule-based organelles that have pivotal roles in numerous biological processes, including transducing sensory signals.... 
JOUBERT-SYNDROME | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | INTRAFLAGELLAR TRANSPORT MOTORS | KUPFFERS VESICLE | LEBER CONGENITAL AMAUROSIS | ZEBRAFISH MODEL | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | NPHP6 GENE | PRIMARY CILIUM | Group II Chaperonins - physiology | Microtubule-Associated Proteins - genetics | Chaperonins - deficiency | Humans | Eye Abnormalities - embryology | Ear - embryology | Molecular Sequence Data | Sensation Disorders - pathology | Zebrafish - embryology | Genetic Complementation Test | Olfactory Receptor Neurons - ultrastructure | Group II Chaperonins - genetics | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Nuclear Proteins - deficiency | HEK293 Cells | Cilia - ultrastructure | Bardet-Biedl Syndrome - genetics | Microtubule-Associated Proteins - deficiency | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Amino Acid Sequence | Antigens, Neoplasm - genetics | Chaperonins - physiology | Group II Chaperonins - deficiency | Ear - abnormalities | Mice, Inbred C57BL | Photoreceptor Connecting Cilium - ultrastructure | Leber Congenital Amaurosis - genetics | Eye Abnormalities - genetics | Zebrafish - genetics | Zebrafish Proteins - physiology | Microtubule-Associated Proteins - physiology | Protein Interaction Mapping | Sequence Homology, Amino Acid | Hair Cells, Auditory - ultrastructure | Sequence Alignment | Zebrafish Proteins - deficiency | Animals | Alleles | Sensation Disorders - prevention & control | Mice | Nuclear Proteins - physiology | Sensation Disorders - genetics | Zebrafish Proteins - genetics | Chaperonins - genetics | Allelomorphism | Gene mutations | Cilia and ciliary motion | Photoreceptors | Genetic aspects | Properties | Identification and classification
Journal Article