Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (36) 36
genetics & heredity (23) 23
male (19) 19
neuronal ceroid-lipofuscinoses - genetics (18) 18
female (17) 17
animals (15) 15
index medicus (15) 15
genes (12) 12
mutation (12) 12
protein (12) 12
base sequence (11) 11
phenotype (11) 11
research (11) 11
chromosome mapping (10) 10
genetic aspects (10) 10
mice (10) 10
molecular sequence data (10) 10
cln3 (9) 9
dynein (9) 9
adult (8) 8
article (8) 8
biology and medicine, basic studies (8) 8
chromosomes, human, pair 16 (8) 8
ciliary motility disorders - genetics (8) 8
kartagener syndrome - genetics (8) 8
disease models, animal (7) 7
hereditary diseases (7) 7
pedigree (7) 7
alleles (6) 6
batten disease (6) 6
child (6) 6
cilia (6) 6
cilia - pathology (6) 6
genetic mapping (6) 6
human chromosome 16 (6) 6
motility (6) 6
movement disorders (6) 6
nervous system diseases (6) 6
patients (6) 6
polymerase chain reaction (6) 6
zebrafish (6) 6
adolescent (5) 5
amino acid sequence (5) 5
analysis (5) 5
biochemistry & molecular biology (5) 5
cilia - metabolism (5) 5
defects (5) 5
exons (5) 5
genetic markers (5) 5
genetics (5) 5
infant (5) 5
life sciences (5) 5
mice, knockout (5) 5
mutation - genetics (5) 5
mutations (5) 5
neuronal ceroid-lipofuscinosis (5) 5
of-function mutations (5) 5
physiological aspects (5) 5
primary cilia (5) 5
primary ciliary dyskinesia (5) 5
proteins - genetics (5) 5
axonemal dyneins - metabolism (4) 4
cell biology (4) 4
child, preschool (4) 4
cilia - genetics (4) 4
cilia - ultrastructure (4) 4
cilia and ciliary motion (4) 4
ciliopathies (4) 4
contigs (4) 4
disease (4) 4
dna-cloning (4) 4
ellis-van creveld syndrome - genetics (4) 4
flagella (4) 4
fluorescence (4) 4
gene mutations (4) 4
infant, newborn (4) 4
intraflagellar transport (4) 4
multidisciplinary sciences (4) 4
neuronal ceroid lipofuscinosis (4) 4
transport (4) 4
age of onset (3) 3
articles (3) 3
arylsulfotransferase - genetics (3) 3
batten-disease gene (3) 3
biotechnology & applied microbiology (3) 3
chromosomes, artificial, yeast (3) 3
ciliary motility disorders - pathology (3) 3
cloning, molecular (3) 3
cosmids (3) 3
diagnosis (3) 3
dna, satellite - genetics (3) 3
dync2h1 mutations (3) 3
dyskinesia (3) 3
ear diseases (3) 3
gene (3) 3
gene expression (3) 3
gene knockdown techniques (3) 3
gene targeting (3) 3
genotype (3) 3
hek293 cells (3) 3
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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, ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, p. 308
Usage | Cilia and ciliary motion | Dynein | Physiological aspects | Mathematical models | Research | Flagella (Microbiology)
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. 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
DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice... 
NEURONAL MIGRATION | SITUS-INVERSUS | DEFECTS | PROTEIN | ZEBRAFISH | DYSKINESIA | GENETICS & HEREDITY | OF-FUNCTION MUTATIONS | CANDIDATE GENE | LARGE GENE LISTS | DEVELOPMENTAL DYSLEXIA | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. 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
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal... 
DYNC2H1 MUTATIONS | ABNORMALITIES | PATHWAY | CENTROSOME | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | HUMANS | DYSPLASIA | COMPONENT | JOUBERT SYNDROME | INTRAFLAGELLAR TRANSPORT | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Cell biology How cilia beat
by Mitchison, T. J and Mitchison, H. M
Nature, ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, pp. 308 - 309
MOLECULAR-MECHANISM | PROTEIN | SPERM | DYNEIN | MULTIDISCIPLINARY SCIENCES | FLAGELLA | MOTORS | OSCILLATION | Cilia - physiology | Dyneins - metabolism | Flagella - physiology | Cilia - pathology | Ciliary Motility Disorders - pathology | Movement - physiology | Models, Biological | Humans | Periodicity | Axoneme - physiology | Ciliary Motility Disorders - metabolism
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. 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
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
Details down arrow
Digital rights down arrow
loading Loading Rights
6. 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
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
Details down arrow
Digital rights down arrow
loading Loading Rights
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
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and... 
EXOME | ZEBRAFISH | HEART-DEFECTS | AXONEMAL PROTEIN | GENETICS & HEREDITY | SEQUENCING IDENTIFIES MUTATIONS | ELECTRON-MICROSCOPY | OF-FUNCTION MUTATIONS | MOTILE CILIA | REGULATORY COMPLEX | INNER | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
by Schmidts, Miriam and Vodopiutz, Julia and Christou-Savina, Sonia and Cortés, Claudio R and McInerney-Leo, Aideen M and Emes, Richard D and Arts, Heleen H and Tüysüz, Beyhan and D’Silva, Jason and Leo, Paul J and Giles, Tom C and Oud, Machteld M and Harris, Jessica A and Koopmans, Marije and Marshall, Mhairi and Elçioglu, Nursel and Kuechler, Alma and Bockenhauer, Detlef and Moore, Anthony T and Wilson, Louise C and Janecke, Andreas R and Hurles, Matthew E and Emmet, Warren and Gardiner, Brooke and Streubel, Berthold and Dopita, Belinda and Zankl, Andreas and Kayserili, Hülya and Scambler, Peter J and Brown, Matthew A and Beales, Philip L and Wicking, Carol and Duncan, Emma L and Mitchison, Hannah M and UK10K
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for... 
RETROGRADE INTRAFLAGELLAR TRANSPORT | PROTEIN | DYNC2H1 MUTATIONS | CILIOPATHIES | VERTEBRATE PHOTORECEPTORS | GENETICS & HEREDITY | RIB-POLYDACTYLY SYNDROME | CYTOPLASMIC DYNEIN-2 | DNA-SEQUENCING DATA | OUTER SEGMENT | PRIMARY CILIA | European Continental Ancestry Group - genetics | Exons | Humans | Asian Continental Ancestry Group - genetics | Cytoplasmic Dyneins - genetics | Cytoskeleton - genetics | Infant | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Axoneme - genetics | Cilia - metabolism | Cilia - genetics | Exome | Carrier Proteins - genetics | Animals | Chlamydomonas - genetics | Proteomics | Cytoskeleton - metabolism | Protein Conformation | Mutation | Child | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Physiological aspects | Genetic code | Dysplasia | Genetic aspects | Research | Gene mutations | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. 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, p. 14279
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport... 
DEFECTS | PROTEIN | VARIANTS | MULTIDISCIPLINARY SCIENCES | IDENTIFIES MUTATIONS | ARMS | R2TP COMPLEX | OUTER | OF-FUNCTION MUTATIONS | MOTILITY | INNER | 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 | Life Sciences | Genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
by Schmidts, M and Hou, Y and Cortes, C.R and Mans, D.A and Huber, C and Boldt, K and Patel, M and Reeuwijk, J. van and Plaza, J.M and Beersum, S.E.C. van and Yap, Z.M and Letteboer, S.J.F and Taylor, S.P and Herridge, W and Johnson, C.A and Scambler, P.J and Ueffing, M and Kayserili, H and Krakow, D and King, S.M and Beales, P.L and Al-Gazali, L and Wicking, C and Cormier-Daire, V and Roepman, R and Mitchison, H.M and Witman, G.B and UK10K
Nature Communications, ISSN 2041-1723, 2015, Volume 6, Issue 1, p. 7074
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are... 
CHLAMYDOMONAS FLAGELLA | ARM DYNEIN | PROTEIN | DYNC2H1 MUTATIONS | CILIOPATHIES | IFT | MULTIDISCIPLINARY SCIENCES | LIGHT INTERMEDIATE CHAIN | RIB-POLYDACTYLY SYNDROME | CYTOPLASMIC DYNEIN-2 | PRIMARY CILIA | Flagella - physiology | Animals | Chlamydomonas reinhardtii | Humans | HEK293 Cells | Penetrance | Zebrafish | Mice | Dyneins - genetics | Ellis-Van Creveld Syndrome - genetics | Mutation | Gene Knockdown Techniques
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling
by Thompson, Clare L and Plant, J.C.T and Wann, A.K.T and Bishop, C.L and Novak, P and Mitchison, H.M and Beales, P.L and Chapple, J.P and Knight, M.M
European Cells and Materials, ISSN 1473-2262, 09/2017, Volume 34, pp. 128 - 141
Tissue engineering-based therapies targeting cartilage diseases, such as osteoarthritis, require in vitro expansion of articular chondrocytes. A major obstacle... 
Hedgehog | Re-differentiation | Chondrocyte | Cilium | Lithium chloride | Primary cilia | Dedifferentiation | lithium chloride | MATERIALS SCIENCE, BIOMATERIALS | ENGINEERING, BIOMEDICAL | primary cilia | dedifferentiation | LITHIUM-CHLORIDE | CELL-SHAPE | CULTURE | re-differentiation | CARTILAGE | CELL & TISSUE ENGINEERING | cilium | PROTEIN POLARIS | IN-VITRO | hedgehog | REGULATES CILIOGENESIS | GROWTH | INTRAFLAGELLAR TRANSPORT | EXPRESSION | Chondrocytes - cytology | Cell Dedifferentiation - drug effects | Cartilage, Articular - cytology | Actins - metabolism | Hedgehog Proteins - metabolism | Polymerization | Cilia - metabolism | Chondrocytes - drug effects | Phenotype | Animals | Signal Transduction - drug effects | Cattle | Lithium Chloride - pharmacology | Ligands | Weight-Bearing | Cell Proliferation - drug effects | Chondrocytes - metabolism
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index
by Irving, S and Dixon, M and Fassad, M R and Frost, E and Hayward, J and Kilpin, K and Ollosson, S and Onoufriadis, A and Patel, M P and Scully, J and Carr, S B and Mitchison, H M and Loebinger, M R and Hogg, C and Shoemark, A and Bush, A
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
Details down arrow
Digital rights down arrow
loading Loading Rights