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1. Full Text How cilia beat: physics provides new approaches to difficult biological problems: a plausible mathematical model of how cilia and flagella beat has been formulated, but it needs to be subjected to rigorous experimental tests
by Mitchison, T.J and Mitchison, H.M
Nature (London), ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, p. 308
Usage | Cilia and ciliary motion | Dynein | Physiological aspects | Mathematical models | Research | Flagella (Microbiology)
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2. Full Text Cell biology How cilia beat
by Mitchison, T. J and Mitchison, H. M
Nature (London), ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, pp. 308 - 309
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cilia - physiology | Dyneins - metabolism | Flagella - physiology | Cilia - pathology | Ciliary Motility Disorders - pathology | Movement - physiology | Models, Biological | Humans | Periodicity | Axoneme - physiology | Ciliary Motility Disorders - metabolism
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3. Full Text DYX1C1 is required for axonemal dynein assembly and ciliary motility
by Tarkar, A and Loges, N.T and Slagle, C.E and Francis, R and Dougherty, G.W and Tamayo, J.V and Shook, B and Cantino, M and Schwartz, D and Jahnke, C and Olbrich, H and Werner, C and Raidt, J and Pennekamp, P and Abouhamed, M and Hjeij, R and Kohler, G and Griese, M and Li, Y and Lemke, K and Klena, N and Liu, X and Gabriel, G and Tobita, K and Jaspers, M and Morgan, L.C and Shapiro, A.J and Letteboer, S.J.F and Mans, D.A and Carson, J.L and Leigh, M.W and Wolf, W.E and Chen, S and Lucas, J.S and Onoufriadis, A and Plagnol, V and Schmidts, M and Boldt, K and Uk10K and Roepman, R and Zariwala, M.A and Lo, C.W and Mitchison, H.M and Knowles, M.R and Burdine, R.D and Loturco, J.J and Omran, H and UK10K
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ependyma - pathology | Axonemal Dyneins - metabolism | Humans | Axonemal Dyneins - genetics | Male | Kartagener Syndrome - genetics | Gene Knockdown Techniques | Respiratory Mucosa - pathology | Cilia - ultrastructure | Gene Order | Disease Models, Animal | Gene Targeting | Ependyma - metabolism | Zebrafish | Nerve Tissue Proteins - genetics | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Transport | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Intracellular Space - metabolism | Kartagener Syndrome - metabolism | Protein Binding | Mice | Mutation | Respiratory Mucosa - metabolism | Physiological aspects | Genetic aspects | Research | Cilia and ciliary motion | Dynein | Studies | Proteins | Heart | Motility | Asymmetry | Rodents | Dyslexia | Gene expression | Experiments | Defects | Index Medicus
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4. Full Text A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
by Shaheen, R and Schmidts, M and Faqeih, E and Hashem, A and Lausch, E and Holder, I and Superti-Furga, A and Mitchison, H.M and Almoisheer, A and Alamro, R and Alshiddi, T and Alzahrani, F and Beales, P.L and Alkuraya, F.S and UK10K Consortium
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 5, pp. 1410 - 1419
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Humans | Molecular Sequence Data | Infant | Male | Ellis-Van Creveld Syndrome - genetics | Genetic Loci | Mutation, Missense | Saudi Arabia | Bone and Bones - metabolism | Cell Cycle Proteins - genetics | Female | Chromosomes, Human, Pair 5 - genetics | Disease Models, Animal | Fibroblasts - metabolism | Amino Acid Sequence | Genome-Wide Association Study | Cilia - pathology | Europe | Cell Cycle Proteins - metabolism | Zebrafish | Chromosome Mapping | Chromosomes, Human, Pair 5 - metabolism | Magnetic Resonance Imaging | Phenotype | Animals | Pedigree | Centrioles - genetics | Fibroblasts - cytology | Centrioles - metabolism | Bone and Bones - abnormalities | Cohort Studies | Index Medicus
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5. Full Text X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
by Olcese, C and Patel, M.P and Shoemark, A and Kiviluoto, S and Legene, M and Williams, H.J and Vaughan, C.K and Hayward, J and Goldenberg, A and Emes, R.D and Munye, M.M and Dyer, L and Cahill, T and Bevillard, J and Gehrig, C and Guipponi, M and Chantot, S and Duquesnoy, P and Thomas, L and Jeanson, L and Copin, B and Tamalet, A and Thauvin-Robinet, C and Papon, J.F and Garin, A and Pin, I and Vera, G and Aurora, P and Fassad, M.R and Jenkins, L and Boustred, C and Cullup, T and Dixon, M and Onoufriadis, A and Bush, A and Chung, E.M and Antonarakis, S.E and Loebinger, M.R and Wilson, R and Armengot, M and Escudier, E and Hogg, C and Amselem, S and Sun, Z and Bartoloni, L and Blouin, J.L and Mitchison, H.M and Schmidts, M and et al and UK10K Rare Grp and UK10K Rare Group
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Index Medicus | Life Sciences | Genetics
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6. Full Text An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
by Wheway, G and Schmidts, M and Mans, D.A and Szymanska, K and Nguyen, T.M and Racher, H and Phelps, I.G and Toedt, G and Kennedy, J and Wunderlich, K.A and Sorusch, N and Abdelhamed, Z.A and Natarajan, S and Herridge, W and Reeuwijk, J. van and Horn, N and Boldt, K and Parry, D.A and Letteboer, S.J.F and Roosing, S and Adams, M and Bell, S.M and Bond, J and Higgins, J and Morrison, E.E and Tomlinson, D.C and Slaats, G.G and Dam, T.J.P. van and Huang, L and Kessler, K and Giessl, A and Logan, C.V and Boyle, E.A and Shendure, J and Anazi, S and Aldahmesh, M and Hazzaa, S. Al and Hegele, R.A and Ober, C and Frosk, P and Mhanni, A.A and Chodirker, B.N and Chudley, A.E and Lamont, R and Bernier, F.P and Beaulieu, C.L and Gordon, P and Pon, R.T and Donahue, C and Barkovich, A.J and Wolf, L and Toomes, C and Thiel, C.T and Boycott, K.M and McKibbin, M and Inglehearn, C.F and Stewart, F and Omran, H and Huynen, M.A and Sergouniotis, P.I and Alkuraya, F.S and Parboosingh, J.S and Innes, A.M and Willoughby, C.E and Giles, R.H and Webster, A.R and Ueffing, M and Blacque, O and Gleeson, J.G and Wolfrum, U and Beales, P.L and Gibson, T and Doherty, D and Mitchison, H.M and Roepman, R and Johnson, C.A and Univ Washington Ctr Mendelian Geno and UK10K Consortium and University of Washington Center for Mendelian Genomics
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | 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
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7. Full Text CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
by Hjeij, Rim and Onoufriadis, Alexandros and Watson, Christopher M and Slagle, Christopher E and Klena, Nikolai T and Dougherty, Gerard W and Kurkowiak, Małgorzata and Loges, Niki T and Diggle, Christine P and Morante, Nicholas F.C and Gabriel, George C and Lemke, Kristi L and Li, You and Pennekamp, Petra and Menchen, Tabea and Konert, Franziska and Marthin, June Kehlet and Mans, Dorus A and Letteboer, Stef J.F and Werner, Claudius and Burgoyne, Thomas and Westermann, Cordula and Rutman, Andrew and Carr, Ian M and O’Callaghan, Christopher and Moya, Eduardo and Chung, Eddie M.K and Sheridan, Eamonn and Nielsen, Kim G and Roepman, Ronald and Bartscherer, Kerstin and Burdine, Rebecca D and Lo, Cecilia W and Omran, Heymut and Mitchison, Hannah M and UK10K Consortium
American journal of human genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunoprecipitation | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Immunoblotting | Male | Kartagener Syndrome - genetics | Axoneme - genetics | Embryo, Mammalian - metabolism | In Situ Hybridization | Female | Cilia - pathology | Cells, Cultured | Mutation - genetics | Zebrafish - growth & development | Cilia - metabolism | Zebrafish - genetics | Mice, Knockout | Microtubule-Associated Proteins - physiology | Two-Hybrid System Techniques | Exome - genetics | Phenotype | Animals | Embryo, Mammalian - cytology | Pedigree | Kartagener Syndrome - pathology | Zebrafish - metabolism | Fluorescent Antibody Technique | Kartagener Syndrome - metabolism | Mice | Genetic aspects | Research | Gene mutations | Movement disorders | Dynein | Proteins | Cytoskeleton | Zebrafish | Mutation | Cells | Index Medicus
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8. Full Text Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
by Moore, Daniel J and Onoufriadis, Alexandros and Shoemark, Amelia and Simpson, Michael A and zur Lage, Petra I and de Castro, Sandra C and Bartoloni, Lucia and Gallone, Giuseppe and Petridi, Stavroula and Woollard, Wesley J and Antony, Dinu and Schmidts, Miriam and Didonna, Teresa and Makrythanasis, Periklis and Bevillard, Jeremy and Mongan, Nigel P and Djakow, Jana and Pals, Gerard and Lucas, Jane S and Marthin, June K and Nielsen, Kim G and Santoni, Federico and Guipponi, Michel and Hogg, Claire and Antonarakis, Stylianos E and Emes, Richard D and Chung, Eddie M.K and Greene, Nicholas D.E and Blouin, Jean-Louis and Jarman, Andrew P and Mitchison, Hannah M
American journal of human genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 346 - 356
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Respiratory System - pathology | Axoneme - metabolism | Humans | Male | Kartagener Syndrome - genetics | Drosophila melanogaster - genetics | Axoneme - genetics | Axoneme - pathology | Drosophila melanogaster - metabolism | Exome | Infertility, Male - genetics | Tumor Suppressor Proteins - genetics | Female | Dyneins - metabolism | Protein Structure, Tertiary | Tumor Suppressor Proteins - metabolism | Cilia - pathology | Gene Expression Regulation | Infertility, Male - pathology | Cilia - metabolism | Cilia - genetics | Proteins - genetics | Animals | Proteins - metabolism | Pedigree | Respiratory System - metabolism | Kartagener Syndrome - pathology | Kartagener Syndrome - metabolism | Infertility, Male - metabolism | High-Throughput Nucleotide Sequencing | Mice | Dyneins - genetics | Mutation | Gene mutations | Cilia and ciliary motion | Physiological aspects | Genetic aspects | Research | Health aspects | Movement disorders | Proteins | Genetic disorders | Fluorescence | Gene expression | Ribonucleic acid--RNA | Cytoplasm | Index Medicus | Report
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9. Full Text Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation
by Fu, S and Thompson, C.L and Ali, A and Wang, W and Chapple, J.P and Mitchison, H.M and Beales, P.L and Wann, A.K.T and Knight, M.M
Osteoarthritis and cartilage, ISSN 1063-4584, 07/2019, Volume 27, Issue 7, pp. 1064 - 1074
Tubulin | Chondrocyte | IL-1β | Primary cilia | IFT | HDAC6 | Life Sciences & Biomedicine | Orthopedics | Rheumatology | Science & Technology | Interleukins | Tubulins | Nitric oxide | Index Medicus
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