ciliary motility disorders

Summary

Summary: Disorders characterized by abnormal ciliary movement in the nose, paranasal sinuses, respiratory tract, and spermatozoa. Electron microscopy of the CILIA shows that dynein arms are missing. The disorders manifest as KARTAGENER SYNDROME, chronic respiratory disorders, chronic sinusitis, and/or chronic otitis.

Top Publications

  1. ncbi Ciliary dyskinesia in the nose and paranasal sinuses
    M Jorissen
    ENT Department, Head and Neck Surgery, , Leuven, Belgium
    Acta Otorhinolaryngol Belg 51:353-66. 1997
  2. ncbi When cilia go bad: cilia defects and ciliopathies
    Manfred Fliegauf
    Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
    Nat Rev Mol Cell Biol 8:880-93. 2007
  3. pmc Clinical and molecular features of Joubert syndrome and related disorders
    Melissa A Parisi
    Center for Developmental Biology and Perinatal Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Boulevard, Bethesda, MD 20892 7510, USA
    Am J Med Genet C Semin Med Genet 151:326-40. 2009
  4. ncbi The ciliopathies: an emerging class of human genetic disorders
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
    Annu Rev Genomics Hum Genet 7:125-48. 2006
  5. pmc A meckelin-filamin A interaction mediates ciliogenesis
    Matthew Adams
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Hum Mol Genet 21:1272-86. 2012
  6. doi Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice
    P Vogel
    Lexicon Pharmaceuticals, Pathology Department, 8800 Technology Forest Place, The Woodlands, TX 77381 1160, USA
    Vet Pathol 47:703-12. 2010
  7. pmc The ciliopathies: a transitional model into systems biology of human genetic disease
    Erica E Davis
    Center for Human Disease Modeling, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Curr Opin Genet Dev 22:290-303. 2012
  8. pmc Architecture and function of IFT complex proteins in ciliogenesis
    Michael Taschner
    Max Planck Institute of Biochemistry, Department of Structural Cell Biology, Am Klopferspitz 18, D 82152 Martinsried, Germany
    Differentiation 83:S12-22. 2012
  9. ncbi The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007
  10. ncbi Primary ciliary dyskinesia: age at diagnosis and symptom history
    M E Coren
    Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK
    Acta Paediatr 91:667-9. 2002

Research Grants

  1. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
  2. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
  3. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2009
  4. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2008
  5. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2008
  6. Pathogenesis of PCD Lung Disease
    Michael Knowles; Fiscal Year: 2007
  7. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2005
  8. Genetic Modifiers of CF Liver Disease
    Michael Knowles; Fiscal Year: 2008
  9. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2001
  10. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2006

Detail Information

Publications144 found, 100 shown here

  1. ncbi Ciliary dyskinesia in the nose and paranasal sinuses
    M Jorissen
    ENT Department, Head and Neck Surgery, , Leuven, Belgium
    Acta Otorhinolaryngol Belg 51:353-66. 1997
    ..However, these investigations are not always conclusive. Functional and ultrastructural ciliary evaluation after ciliogenesis in tissue culture is essential and crucial...
  2. ncbi When cilia go bad: cilia defects and ciliopathies
    Manfred Fliegauf
    Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany
    Nat Rev Mol Cell Biol 8:880-93. 2007
    ..Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types...
  3. pmc Clinical and molecular features of Joubert syndrome and related disorders
    Melissa A Parisi
    Center for Developmental Biology and Perinatal Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, 6100 Executive Boulevard, Bethesda, MD 20892 7510, USA
    Am J Med Genet C Semin Med Genet 151:326-40. 2009
    ....
  4. ncbi The ciliopathies: an emerging class of human genetic disorders
    Jose L Badano
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21205, USA
    Annu Rev Genomics Hum Genet 7:125-48. 2006
    ....
  5. pmc A meckelin-filamin A interaction mediates ciliogenesis
    Matthew Adams
    Ciliopathy Research Group, Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Hum Mol Genet 21:1272-86. 2012
    ..Concurrent with these processes, the meckelin-filamin A signalling axis may be a key regulator in maintaining correct, normal levels of Wnt signalling...
  6. doi Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice
    P Vogel
    Lexicon Pharmaceuticals, Pathology Department, 8800 Technology Forest Place, The Woodlands, TX 77381 1160, USA
    Vet Pathol 47:703-12. 2010
    ....
  7. pmc The ciliopathies: a transitional model into systems biology of human genetic disease
    Erica E Davis
    Center for Human Disease Modeling, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Curr Opin Genet Dev 22:290-303. 2012
    ....
  8. pmc Architecture and function of IFT complex proteins in ciliogenesis
    Michael Taschner
    Max Planck Institute of Biochemistry, Department of Structural Cell Biology, Am Klopferspitz 18, D 82152 Martinsried, Germany
    Differentiation 83:S12-22. 2012
    ..In this review we will give an update on the knowledge of the structure and function of individual IFT proteins, and the way these proteins interact to form the complex that facilitates IFT...
  9. ncbi The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    Marion Delous
    Institut National de la Santé et de la Recherche Médicale INSERM U 574, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Genet 39:875-81. 2007
    ..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...
  10. ncbi Primary ciliary dyskinesia: age at diagnosis and symptom history
    M E Coren
    Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK
    Acta Paediatr 91:667-9. 2002
    ..Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early onset troublesome rhinitis in 42/55...
  11. pmc Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
    C Guichard
    Laboratoire de Génétique Moléculaire Humaine, Equipe d Accueil 3088, Université C Bernard Lyon 1, 69373 Lyon Cedex 8, France
    Am J Hum Genet 68:1030-5. 2001
    ..Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS)...
  12. pmc Craniofacial ciliopathies: A new classification for craniofacial disorders
    Samantha A Brugmann
    Department of Plastic and Reconstructive Surgery, Stanford University, Stanford, California 94305, USA
    Am J Med Genet A 152:2995-3006. 2010
    ..Finally, we propose that some non-classified disorders may now be classified as craniofacial ciliopathies...
  13. ncbi Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
    Heleen H Arts
    Department of Human Genetics, Radboud University Nijmegen Medical Centre and Nijmegen Centre for Molecular Life Sciences, 6500 HB Nijmegen, The Netherlands
    Nat Genet 39:882-8. 2007
    ..This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder...
  14. ncbi Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions
    Maciej Geremek
    Institute of Human Genetics, Polish Academy of Sciences, 60 479 Poznan, Poland
    J Appl Genet 45:347-61. 2004
    ..In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome...
  15. pmc Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis
    Gayle B Collin
    Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Invest Ophthalmol Vis Sci 53:967-74. 2012
    ..In this study, the retinal morphology and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of photoreceptor development was examined...
  16. doi Ciliary dysfunction in developmental abnormalities and diseases
    Neeraj Sharma
    Department of Cell Biology, University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama, USA
    Curr Top Dev Biol 85:371-427. 2008
    ....
  17. ncbi Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia
    P G Noone
    Department of Medicine, University of North Carolina at Chapel Hill, 27599 7249, USA
    Am J Med Genet 82:155-60. 1999
    ..This is consistent with the hypothesis that situs inversus occurring in patients with primary ciliary dyskinesia is a random but "complete" event in the fetal development of patients with PCD...
  18. pmc Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
    Joanna Walczak-Sztulpa
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin 14195, Germany
    Am J Hum Genet 86:949-56. 2010
    ..Still, by identifying CED as a ciliary disorder, our study suggests that the causative mutations in the unresolved cases most likely affect primary cilia function too...
  19. doi Ciliary defects and genetics of primary ciliary dyskinesia
    Estelle Escudier
    AP HP, Service de Génétique et d Embryologie médicales and Inserm U 933, Hopital Armand Trousseau, 26, avenue du Docteur Arnold Netter, 75571 Paris Cedex 13, France
    Paediatr Respir Rev 10:51-4. 2009
    ..The relative contribution of DNAI2 is currently being assessed. In all the other patients with ODA or other ultrastructural defects, the causative genes remain to be identified...
  20. ncbi Making sense of cilia in disease: the human ciliopathies
    Kate Baker
    UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Am J Med Genet C Semin Med Genet 151:281-95. 2009
    ..We review the common clinical phenotypes associated with ciliopathies and interrogate Online Mendelian Inheritance in Man (OMIM) to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role...
  21. ncbi The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia
    Mark Jorissen
    Department of ENT, Head and Neck Surgery, University Hospital Leuven, Leuven, Belgium
    Acta Otolaryngol 124:527-31. 2004
    ..The etiology, pathogenesis, consequences and relevance of ciliary (dis)orientation are still unclear...
  22. ncbi Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia
    M Pifferi
    Department of Pediatrics, University of Pisa, Via Roma 67, 56126 Pisa, Italy
    Thorax 64:1077-81. 2009
    ..The diagnosis of primary ciliary dyskinesia (PCD) can be challenging, and it may be particularly difficult to distinguish primary ciliary disease from the secondary changes after infections...
  23. ncbi Function and ultrastructure of cilia in primary ciliary dyskinesia
    H Felix
    Klinik und Poliklinik für Otorhinolaryngologie, Hals und Gesichtschirurgie, Universitatsspital Zurich
    Schweiz Med Wochenschr 130:699-704. 2000
    ..e. after ruling out the other well known causes) with "situs inversus"...
  24. ncbi Computer-assisted analysis helps detect inner dynein arm abnormalities
    Estelle Escudier
    Unité fonctionnelle de biologie de la reproduction, Département de génétique, cytogénétique et embryologie, Groupe Hospitalier Pitié Salpêtrière AP HP, Paris
    Am J Respir Crit Care Med 166:1257-62. 2002
    ..Computer-assisted analysis of ciliary micrographs improves the characterization of inherited axonemal defects...
  25. ncbi Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia
    Heike Olbrich
    Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany
    Pediatr Res 59:418-22. 2006
    ..DNAH5 localization is not altered by SCD, indicating a high potential for immunofluorescence analysis as a novel diagnostic tool in PCD...
  26. pmc Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle
    Jonna Tallila
    National Public Health Institute, Institute for Molecular Medicine Finland, Helsinki 00290, Finland
    Am J Hum Genet 82:1361-7. 2008
    ....
  27. ncbi Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture
    M Jorissen
    ENT Department, UZ GHB, Leuven
    Acta Otorhinolaryngol Belg 54:343-56. 2000
    ..In conclusion, inherited abnormalities in primary ciliary dyskinesia are expressed after ciliogenesis, while secondary abnormalities are virtually absent, thereby facilitating the ultrastructural diagnosis...
  28. ncbi Success rates of respiratory epithelial cell culture techniques with ciliogenesis for diagnosing primary ciliary dyskinesia
    M Jorissen
    ENT Department, UZ GHB, Leuven
    Acta Otorhinolaryngol Belg 54:357-65. 2000
    ..In a total of 84 patients (10.3%) the final diagnosis was primary ciliary dyskinesia. Eighteen percent of the samples were considered normal, in 24% secondary ciliary dyskinesia was diagnosed...
  29. doi Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
    C O'Callaghan
    Dept of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK
    Eur Respir J 38:603-7. 2011
    ..Patients suspected of PCD due to an inner dynein arm defect or radial spoke defect should have the diagnosis reassessed if it has been based on only one diagnostic sample...
  30. pmc Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates
    D Jeganathan
    J Med Genet 41:233-40. 2004
  31. pmc Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome
    Yosuke Kobayashi
    Department of Geriatric Research, National Institute for Longevity Sciences, Obu, Aichi 474 8522, Japan
    Mol Cell Biol 22:2769-76. 2002
    ..Collectively, Pol lambda(-/-) mice may provide a useful model for clarifying the pathogenesis of immotile cilia syndrome...
  32. pmc Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
    G Pennarun
    Institut National de la Santé et de la Recherche Médicale U468, Hopital Henri Mondor, 94010 Creteil, France
    Am J Hum Genet 65:1508-19. 1999
    ..These data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects...
  33. ncbi Cilia-related diseases
    B A Afzelius
    Department of Zoophysiology, Arrhenius Laboratories F3, Stockholm University, SE 106 91 Stockholm, Sweden
    J Pathol 204:470-7. 2004
    ..Ciliary malfunctions due to genetic errors tend to be systemic and life-long, whereas acquired diseases are local and may be temporary only...
  34. ncbi Genetic defects in ciliary structure and function
    Maimoona A Zariwala
    Department of Medicine, Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    Annu Rev Physiol 69:423-50. 2007
    ..Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD...
  35. ncbi Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene
    H Omran
    University Children s Hospital Freiburg, Freiburg University Hospital for Ear, Nose and Throat, Freiburg, Germany
    Am J Respir Cell Mol Biol 23:696-702. 2000
    ..On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD...
  36. pmc A locus for primary ciliary dyskinesia maps to chromosome 19q
    M Meeks
    Department of Paediatrics, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK
    J Med Genet 37:241-4. 2000
    ..3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity...
  37. ncbi Nasal ciliary beat after insertion of septo-valvular splints
    G Piatti
    Institute of Respiratory Diseases, Ospedale Maggiore di Milano, IRCCS, University of Milan, Italy
    Otolaryngol Head Neck Surg 130:558-62. 2004
    ..We evaluated the local tolerance of a newly shaped device, the Guastella/Mantovani splint (G/M-SVS), with respect to the physiological mechanism of mucociliary clearance...
  38. ncbi Ciliary function and the role of cilia in clearance
    Wendy Stannard
    Division of Child Health, Department of Infection, Immunity and Inflammation, Institute of Lung Health, University of Leicester, Leicester, United Kingdom
    J Aerosol Med 19:110-5. 2006
    ..These defenses may be disrupted by viral and bacterial infections, by inhaled toxins, and by inherited diseases such as primary ciliary dyskinesia and cystic fibrosis...
  39. ncbi [Comparison of the mucociliary transport rate of rhinitis sicca and atrophic rhinitis]
    Xiaotong Zhang
    Department of Otolaryngology, Second Hospital of Xi an Jiaotong University, Xi an 710004
    Lin Chuang Er Bi Yan Hou Ke Za Zhi 17:646-7, 649. 2003
    ..To study the mucociliary transport function of rhinitis sicca and atrophic rhinitis, and to explore the standard of diagnosis...
  40. ncbi Ciliary syndromes and treatment
    Michal Klysik
    Texas Tech University Health Science Center, 4800 Alberta Ave, El Paso, TX 79905, USA
    Pathol Res Pract 204:77-88. 2008
    ..In this review, attempts are made to outline selected, yet key topics related to ciliary function in health and disease...
  41. ncbi The roles of cilia in developmental disorders and disease
    Brent W Bisgrove
    Huntsman Cancer Institute Center for Children, Department of Oncological Sciences, University of Utah, Salt Lake City, UT 84112, USA
    Development 133:4131-43. 2006
    ..Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia...
  42. ncbi Obstructive azoospermia associated with chronic sinopulmonary infection and situs inversus totalis
    Kentaro Ichioka
    Department of Urology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan
    Urology 68:204.e5-7. 2006
    ....
  43. ncbi Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish
    Wolfgang Hirschner
    Interfaculty Institute for Biochemistry, University of Tuebingen, Tuebingen, Germany
    J Neurochem 101:274-88. 2007
    ..Wdr16 can be considered a differentiation marker of kinocilia-bearing cells. In the brain, it appears to be functionally related to water homeostasis or osmoregulation...
  44. ncbi Cilia and flagella revealed: from flagellar assembly in Chlamydomonas to human obesity disorders
    William J Snell
    Department of Cell Biology, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Cell 117:693-7. 2004
    ....
  45. ncbi Ultrastructural ciliary findings in nasal obstructive diseases
    S Monini
    Department of Otorhinolaryngology, II Medical School of the University La Sapienza, Rome, Italy
    Rhinology 43:251-6. 2005
    ..According to the findings derived from this study, mechanical nasal obstruction seems to cause major alterations on the nasal ciliary arrangement, thus determining a functional impairment on the whole nasal function...
  46. ncbi Cilia, primary ciliary dyskinesia and molecular genetics
    R Chodhari
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, Bloomsbury Campus, Rayne Building, 5 University Street, WC1 E 6JJ, UK
    Paediatr Respir Rev 5:69-76. 2004
    ..This may also allow the development of new methods for diagnosis, prevention and treatment of PCD...
  47. ncbi Culture of cells harvested with nasal brushing: a method for evaluating ciliary function
    Elina Toskala
    Department of Otorhinolaryngology, Tampere University Hospital, Tampere, Finland
    Rhinology 43:121-4. 2005
    ..Usefulness and reliability of nasal brush samples in a monolayer cell culture was studied for evaluation of ciliary movement...
  48. ncbi Neutrophils potentiate platinum-mediated injury to human ciliated epithelium in vitro
    Charles Feldman
    Division of Pulmonology, Department of Medicine, University of the Witwatersrand, Johannesburg, South Africa
    Inhal Toxicol 17:297-301. 2005
    ..If such effects also occur in vivo they may play a role, at least partly, in the pathogenesis of airway disorders that may manifest in exposed workers...
  49. ncbi Primary ciliary dyskinesia in a Staffordshire bull terrier
    M De Scally
    Bryanston Veterinary Hospital, P O Box 67092, Bryanston, 2021, South Africa
    J S Afr Vet Assoc 75:150-2. 2004
    ..To the authors' knowledge, this is the first case of PCD described in the Staffordshire bull terrier and the first report of PCD in South Africa...
  50. ncbi [Clinical and ultrastructural features of ciliary dyskinesia]
    Rodrigo Iñiguez C
    Departamentos de Otorrinolaringología, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile
    Rev Med Chil 135:1147-52. 2007
    ..Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways...
  51. ncbi [The research progress of the nasal mucosal cilia]
    De Min Han
    Zhonghua Yi Xue Za Zhi 83:172-4. 2003
  52. ncbi [Congenital immotile cilia--a rare syndrome of academic interest. An unexpected explanation why the heart ends up of the left side]
    Bjorn Afzelius
    Avdelningen för zoofysiologi, Stockholms universitet
    Lakartidningen 100:1148-9, 1152. 2003
  53. ncbi Polycystic kidney disease--the ciliary connection
    Albert C M Ong
    Sheffield Kidney Institute, Division of Clinical Sciences North, University of Sheffield, S5 7AU, Sheffield, UK
    Lancet 361:774-6. 2003
    ..Autosomal dominant PKD is one of the most common human genetic diseases and results from mutations in PKD1 or PKD2. These genes encode two proteins, polycystin-1 and polycystin-2...
  54. ncbi Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia
    L Bartoloni
    Division of Medical Genetics, University of Geneva Medical School and, Geneva, Switzerland
    Genomics 72:21-33. 2001
    ..In the absence of pathogenic mutations, the DNAH9 gene has been excluded as being responsible for autosomal recessive PCD in these families...
  55. ncbi The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
    G Pennarun
    Institut National de la Santé et de la Recherche Médicale U468, H pital Henri Mondor, Creteil, France
    Hum Genet 107:642-9. 2000
    ..No mutation was found in the DNAI2 coding sequence of the twelve patients investigated. However, ten intragenic polymorphic sites and an EcoRI RFLP have been identified, allowing the exclusion of DNAI2 in three consanguineous families...
  56. ncbi Ciliary ultrastructure in primary ciliary dyskinesia and other chronic respiratory conditions: the relevance of microtubular abnormalities
    M Lurie
    Department of Pathology, Carmel Hospital, Technion Medical School, Haifa, Israel
    Ultrastruct Pathol 16:547-53. 1992
    ..Ciliary microtubular abnormalities of any kind were no more frequent in cases of primary ciliary dyskinesia than in other cases. The same was true for transposition and radial spoke defects...
  57. ncbi Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia
    Yan J Zhang
    Cystic Fibrosis Pulmonary Research and Treatment Center, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599 7248, USA
    J Biol Chem 277:17906-15. 2002
    ..In cilia from PCD cells, DNAH7 was undetectable, whereas intracellular DNAH7 was clearly present. These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of PCD...
  58. ncbi Ciliary structure in health and disease
    B A Afzelius
    Arrhenius Laboratories F3, Stockholm University, Sweden
    Acta Otorhinolaryngol Belg 54:287-91. 2000
    ..The inborn disease named immotile-cilia syndrome is characterized by the cilia being defective. It is a highly heterogeneous disease in that more than a dozen subgroups characterized by different ciliary defects have been recognized...
  59. ncbi Abnormal central complex is a marker of severity in the presence of partial ciliary defect
    A Tamalet
    Pediatric Pulmonology and ENT Departments, Armand Trousseau Hospital (AP-HP, Paris, France
    Pediatrics 108:E86. 2001
    ..Detection of CC abnormalities is a marker of severity and required intensive therapy and close follow-up...
  60. ncbi Cilia: tuning in to the cell's antenna
    Wallace F Marshall
    Department of Biochemistry and Biophysics, University of California San Francisco, 600 16th St, San Francisco, California 94143, USA
    Curr Biol 16:R604-14. 2006
    ..While these diseases highlight the pivotal roles of cilia in physiology and development, the mechanistic link between cilia, physiology, and disease remains unclear...
  61. ncbi Correlation of presentation and pathologic condition in primary ciliary dyskinesia
    Gregory Y Chin
    Department of Otolaryngology Head and Neck Surgery, University of Southern California Keck School of Medicine, Los Angeles, USA
    Arch Otolaryngol Head Neck Surg 128:1292-4. 2002
    ..To better characterize primary ciliary dyskinesia (PCD) and improve the diagnosis of this uncommon disorder...
  62. ncbi A two-cilia model for vertebrate left-right axis specification
    Clifford J Tabin
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 17:1-6. 2003
  63. ncbi [Primary ciliary dyskinesia in situs inversus without bronchiectasis]
    J Gierich
    , Fachkliniken Wangen,
    Pneumologie 51:1127-32. 1997
    ..Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria...
  64. ncbi [The circadian rhythm of ciliary beat frequency of human nasal cilia in probands with healthy lungs and in patients with chronic obstructive lung disease. Includes adrenergic stimulation by terbutaline]
    A Thomas
    Ruhrlandklinik, , Essen-Heidhausen
    Pneumologie 47:526-30. 1993
    ..9 Hz). In contrast to, neither a circadian variation of the ciliary beat frequency nor a stimulation by terbutaline could be observed in a group of fifteen patients with chronic bronchitis or bronchiectasis at 600, 1200, 1800 and 2400...
  65. ncbi Microtubular discontinuities as acquired ciliary defects in airway epithelium of patients with chronic respiratory diseases
    J L Carson
    Department of Pediatrics and Cell Biology and Anatomy, University of North Carolina at Chapel Hill
    Ultrastruct Pathol 18:327-32. 1994
    ..These data provide evidence that ciliary microtubular discontinuities represent acquired ciliary defects reflective of chronic airway disease injury and are not components of a primary structural abnormality in PCD...
  66. ncbi [Immotile cilia syndrome--ultrastructural deviations of the nasal cilia]
    J Byloos
    Brugmann-Kinderziekenhuis, Dienst K.N.O, Brussel
    Acta Otorhinolaryngol Belg 43:515-21. 1989
    ..Dyskinetic or dysfunctional cilia result clinically in the immotile-cilia syndrome. Differentiation between congenital and acquired anomalies is important. An early diagnosis as part of the therapeutic approach should be considered...
  67. ncbi Clinicopathologic reports, case reports, and small case series: usher syndrome type 1 associated with primary ciliary aplasia
    Gian Marco Tosi
    Arch Ophthalmol 121:407-8. 2003
  68. ncbi Pathophysiology and treatment of airway mucociliary clearance. A moving tale
    P Cole
    Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
    Minerva Anestesiol 67:206-9. 2001
    ..Methods of rectifying this defect promise to restore MCC to normal and interfere in the vicious circle of inflammatory lung damage...
  69. ncbi Nasal nitric oxide in atypical primary ciliary dyskinesia
    Massimo Pifferi
    University of Pisa, Department of Pediatrics, Via Roma 67, 56122 Pisa, Italy
    Chest 131:870-3. 2007
    ..Atypical cases of primary ciliary dyskinesia (PCD) may present with minimal transmission electron microscopy (TEM) defects. The diagnostic role of nasal nitric oxide (nNO) levels was evaluated in those patients...
  70. pmc Structure and function of mammalian cilia
    Peter Satir
    Department of Anatomy and Structural Biology, Albert Einstein College of Medicine, Bronx, NY, USA
    Histochem Cell Biol 129:687-93. 2008
    ..This view has had unanticipated consequences for our understanding of developmental processes and human disease...
  71. ncbi [Ultrastructural changes of the nasal mucosa in primary ciliary dyskinesia]
    S Knipping
    Universitätsklinik und Poliklinik für Hals, Nasen, Ohrenheilkunde, Kopf und Halschirurgie, Martin Luther Universitat Halle Wittenberg, Magdeburger Strasse 12, 06097 Halle Saale
    HNO 50:483-7. 2002
    ..Special attention should be given to ultrastructural changes of nasal or bronchial mucosa if a young patient suffers from recurrent severe respiratory infections...
  72. doi From quantitative protein complex analysis to disease mechanism
    Y Texier
    Division of Experimental Ophthalmology and Medical Proteome Center, Centre for Ophthalmology, Eberhard Karls University Tubingen, Nägelestr 5, D 72074 Tubingen, Germany
    Vision Res 75:108-11. 2012
    ..This review focusses on some selected recent studies using affinity purification-based protein complex analysis, thereby exemplifying the great possibilities this technology offers...
  73. doi Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome
    Christel Eckmann-Scholz
    Department of Gynecology and Obstetrics, University Hospital Schleswig Holstein, Campus Kiel and Christian Albrechts University Kiel, Arnold Heller Straße 3, 24105 Kiel, Germany
    Arch Gynecol Obstet 286:917-21. 2012
    ..A splice site mutation in the MKS4 gene could be detected. Clinical management accounting risk assessment for future pregnancies is discussed and early ultrasound markers in MKS are described...
  74. ncbi [Recombinant human DNase in conditions other than cystic fibrosis]
    Kim Kristensen
    Paediatrisk klinik 2, 4072, Rigshospitalet, DK 2100 København Ø, Denmark
    Ugeskr Laeger 172:616-9. 2010
    ..There are no controlled studies on rhDNase in primary ciliary dyskinesia or atelectasis...
  75. doi Can pentoxifylline improve the sperm motion and ICSI success in the primary ciliary dyskinesia?
    Gazi Yildirim
    Department of Obstetrics and Gynecology, Yeditepe University Hospital, Devlet Yolu, Ankara Cad No 102 104, Kozyatagi, Istanbul, Turkey
    Arch Gynecol Obstet 279:213-5. 2009
    ..The role of ICSI with incubated and activated ejaculatory sperm by pentoxifylline in the patient of PCD or as commonly named immotile cilia syndrome...
  76. ncbi [Evidence for autosomal dominant inheritance through the maternal line in a case of primary ciliary diskinesia]
    J Alvarez González
    Centro de Infertilidad Masculina ANDROGEN, La Coruna
    Actas Urol Esp 30:728-30. 2006
    ..In approximately 50% of the spermatozoa, the midpiece had a decreased number of mitochondria and extra non-aligned mitochondria. Other findings included extra peripheral microtubules in the axoneme...
  77. ncbi [Primary ciliary dyskinesia. A case report and comparison with 4 previous cases]
    Takashi Ishiguro
    Department of Respiratory Medicine, Saitama Cardiovascular and Respiratory Center
    Nihon Kokyuki Gakkai Zasshi 47:242-8. 2009
    ..Primary ciliary dyskinesia has more variety in radiological and clinical findings than has been recognized...
  78. ncbi Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease
    Laurie A Smith
    Genzyme Corporation, 5 Mountain Road, Framingham, MA 01701 9322, USA
    J Am Soc Nephrol 17:2821-31. 2006
    ..Collectively, these data demonstrate that the jck mice should be useful for testing potential therapies and for studying the molecular mechanisms that link ciliary structure/function and cystogenesis...
  79. pmc The cell biological basis of ciliary disease
    Wallace F Marshall
    Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94143, USA
    J Cell Biol 180:17-21. 2008
    ..The clinical complexity of the ciliopathies can therefore only be understood in light of the basic cell biology of the cilia themselves, which I will discuss from the viewpoint of cell biological studies in model organisms...
  80. pmc Inactivation of Chibby affects function of motile airway cilia
    Vera A Voronina
    Department of Pharmacology, Howard Hughes Medical Institute, USA
    J Cell Biol 185:225-33. 2009
    ..As the phenotypes of Cby(-/-) mice bear striking similarities to primary ciliary dyskinesia, Cby(-/-) mice may prove to be a useful model for this condition...
  81. ncbi Situs inversus totalis, renal and pancreatic dysplasia, and cysts as an autosomal recessive new entity?
    Sevim Balci
    Genet Med 9:137; author reply 137. 2007
  82. pmc Modeling human disease in humans: the ciliopathies
    Gaia Novarino
    Neurogenetics Laboratory, Institute for Genomic Medicine, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, University of California, San Diego, La Jolla 92093, USA
    Cell 147:70-9. 2011
    ..Sitting at the interface between simple and complex genetic conditions, these diseases provide clues to the future direction of human genetics...
  83. ncbi Ciliary biology: understanding the cellular and genetic basis of human ciliopathies
    Magdalena Cardenas-Rodriguez
    Universidad de la Republica, Uruguay
    Am J Med Genet C Semin Med Genet 151:263-80. 2009
    ....
  84. doi Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies
    Olivier Devuyst
    Division of Nephrology, Université Catholique de Louvain Medical School, B 1200 Brussels, Belgium
    Nephrol Dial Transplant 23:1500-3. 2008
  85. ncbi Unusual ciliary abnormalities in three 9/11 response workers
    James T McMahon
    Department of Anatomic Pathology, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Ann Otol Rhinol Laryngol 120:40-8. 2011
    ....
  86. doi RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies
    Loubna el Zein
    Universite de Lyon, Lyon, France
    J Cell Sci 122:3180-9. 2009
    ..In conclusion, RFX proteins not only regulate genes involved in ciliary assembly, but also genes that are involved in ciliary motility and that are associated with ciliopathies such as primary ciliary dyskinesia in humans...
  87. pmc Liver and kidney disease in ciliopathies
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bldg 10, Rm 10C103, Bethesda, MD 20892 1851, USA
    Am J Med Genet C Semin Med Genet 151:296-306. 2009
    ..This review focuses on the kidney and liver disease found in the different ciliopathies...
  88. ncbi Clinical application of nasal nitric oxide measurement
    S Carraro
    Department of Pediatrics, Unit of Allergy and Respiratory Medicine, University of Padova, Italy
    Int J Immunopathol Pharmacol 23:50-2. 2010
    ..Particularly low concentrations have been described in children with primary ciliary dyskinesia, so nNO measurement has been proposed as a reliable screening test for this chronic lung disease...
  89. ncbi Clinical variability in ciliary disorders
    Kirk Mykytyn
    Nat Genet 39:818-9. 2007
  90. ncbi [A new breath actuated dry powder inhaler (Auto-Jethaler)]
    J O Steiss
    Zentrum für Kinderheilkunde und Jugendmedizin der Universität Giessen
    Klin Padiatr 219:66-9. 2007
    ..The aim was to examine the handling of the recently developed breath actuated dry powder inhaler Auto-Jethaler (PulmoTec GmbH/Höchstädt, launch by Ratiopharm and CT Berlin)...
  91. ncbi Secondary ciliary dyskinesia in upper respiratory tract
    B Bertrand
    ORL and HNS Department, Cliniques Universitaires de Mont Godinne, Yvoir, Belgium
    Acta Otorhinolaryngol Belg 54:309-16. 2000
    ..To distinct from ultrastructural images between primary and secondary ciliary dyskinesia is often uneasy because some of the findings in secondary ciliary dyskinesia obviously mimic those dedicated to primary ciliary dyskinesia...
  92. ncbi [Association between heroin consumption in pregnancy and structural abnormalities of the respiratory cilia in newborn infants]
    A Mur Sierra
    Sección de Neonatología Servicio de Pediatría Hospital del Mar Universidad Autónoma de Barcelona
    An Esp Pediatr 55:335-8. 2001
    ..To describe structural abnormalities of the respiratory cilia in newborn infants whose mothers consumed heroin during pregnancy...
  93. ncbi [Primary ciliary dyskinesia. report of three cases]
    R Busquets Monge
    Servicios de Pediatría Anatomía Patológica, Hospital del Mar, Universidad Autonoma de Barcelona, Spain
    An Esp Pediatr 54:513-7. 2001
    ..Although the syndrome cannot be cured, as in other chronic pneumopathies, early diagnosis and appropriate treatment can considerably reduce morbidity...
  94. ncbi [Report of a case of primary ciliary aplasia]
    L A Boer
    , Divisione di Pediatria dell'Ospedale Civile Maggiore, Verona, Piazzale Stefani, 37126 Verona, Italia
    Pediatr Med Chir 23:137-40. 2001
    ..We report a case of one boy with ciliary aplasia characterized by diagnostic peculiarity, consisting in the initial non-diagnosis, a period of relative well-being and a relapse with good recovery after adequate therapy...
  95. ncbi Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius
    Walter E Berdon
    Department of Radiology, Children s Hospital of New York, 3959 Broadway, CHN 3 325, New York, NY 10032, USA
    Pediatr Radiol 34:38-42. 2004
    ..The cause of the situs inversus remains elusive to this day. It is appropriate to call the condition Kartagener-Afzelius syndrome...
  96. pmc RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
    I Zito
    J Med Genet 40:609-15. 2003
  97. ncbi Clinico-pathological evaluation of ciliary dyskinesia: diagnostic role of electron microscopy
    Sara Pizzi
    Dipartimento Clinico di Scienze Radiologiche e Istocitopatologiche, Ospedale S Orsola Malpighi, Bologna, Italy
    Ultrastruct Pathol 27:243-52. 2003
    ..Early diagnosis of PCD with appropriate clinical follow-up and treatment is important to prevent irreversible lung tissue damage, namely bronchiectasis...
  98. ncbi Respiratory ciliary function in bone marrow recipients
    W Y Au
    University Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong SAR, China
    Bone Marrow Transplant 27:1147-51. 2001
    ..Further studies are indicated to evaluate this important phenomenon, which could be an important cause of the susceptibility for BMT recipients to respiratory infections...
  99. ncbi Nasal ciliary function and ultrastructure in Down syndrome
    G Piatti
    Institute of Respiratory Diseases, Ospedale Policlinico, IRCCS, School of Medicine, University of Milan, Milan, Italy
    Laryngoscope 111:1227-30. 2001
    ..CONCLUSION: We attribute the nature of the mucociliary defect in Down syndrome to recurrent respiratory tract infections causing changes in mucus properties as in rheological parameters and not to a primitive defect of cilia...
  100. ncbi [Pediatric pulmonology]
    H Bisgaard
    H S Rigshospitalet, Børneafdelingen
    Ugeskr Laeger 163:6391-5. 2001
    ..This article summarises the status of this specialty, and the training syllabus, and highlights key research questions...
  101. ncbi Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family
    M al-Shroof
    Houston Medical Center, Warner Robins, GA 11554, USA
    Mayo Clin Proc 76:1219-24. 2001
    ..The unusual presentation of ciliary dyskinesia, hydrocephalus, and mental retardation may be due to a new genetic mutation...

Research Grants83

  1. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  2. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  3. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2009
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  4. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2008
    ..Natural variation in the disease proves that there must be ways to alter its course, and this project has the power to identify genetic sources of that variation. ..
  5. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2008
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  6. Pathogenesis of PCD Lung Disease
    Michael Knowles; Fiscal Year: 2007
    ..abstract_text> ..
  7. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2005
    ..Identification of genes that modulate the severity of the pulmonary phenotype will improve our understanding of the pathophysiology of CF lung disease, and identify new targets for therapeutic intervention. ..
  8. Genetic Modifiers of CF Liver Disease
    Michael Knowles; Fiscal Year: 2008
    ..Better understanding of the pathobiology of hepatic fibrosis in CF will identify novel targets to prevent (or reduce) the development of CFLD. ..
  9. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2001
    ..Identification of genes that modulate the severity of the pulmonary phenotype will improve our understanding of the pathophysiology of CF lung disease, and identify new targets for therapeutic intervention. ..
  10. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2006
    ..Finally, we will work with the DTCC to coordinate and expand current websites to provide information to the lay public, patients, and medical professionals for education, referral, and recruitment of study subjects. ..
  11. Pathogenesis of PCD Lung Disease
    Michael R Knowles; Fiscal Year: 2010
    ....
  12. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2002
    ..Identification of genes that modulate the severity of the pulmonary phenotype will improve our understanding of the pathophysiology of CF lung disease, and identify new targets for therapeutic intervention. ..
  13. Genetic Modifiers of CF Liver Disease
    Michael Knowles; Fiscal Year: 2007
    ..Better understanding of the pathobiology of hepatic fibrosis in CF will identify novel targets to prevent (or reduce) the development of CFLD. ..
  14. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    STEPHANIE WARE; Fiscal Year: 2007
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  15. Molecular Phenotypes for Cystic Fibrosis Lung Disease
    Michael Knowles; Fiscal Year: 2008
    ....
  16. Zic3 and the Control of Body Pattern Formation
    STEPHANIE WARE; Fiscal Year: 2005
    ..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
  17. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2003
    ..Identification of genes that modulate the severity of the pulmonary phenotype will improve our understanding of the pathophysiology of CF lung disease, and identify new targets for therapeutic intervention. ..
  18. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2008
    ..Finally, we will work with the DTCC to coordinate and expand current websites to provide information to the lay public, patients, and medical professionals for education, referral, and recruitment of study subjects. ..
  19. Gene Modifiers in CF Lung Disease
    Michael Knowles; Fiscal Year: 2004
    ..Identification of genes that modulate the severity of the pulmonary phenotype will improve our understanding of the pathophysiology of CF lung disease, and identify new targets for therapeutic intervention. ..
  20. Role of the Embryonic Node in Cardiac Development and Congenital Heart Disease
    Stephanie M Ware; Fiscal Year: 2010
    ..These studies have the potential to identify molecular and genetic pathways contributing to cardiac development and will develop novel tools to dissect mechanisms underlying congenital heart disease. ..
  21. Pathogenesis of PCD Lung Disease
    Michael Knowles; Fiscal Year: 2004
    ..abstract_text> ..
  22. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2004
    ..Finally, we will work with the DTCC to coordinate and expand current websites to provide information to the lay public, patients, and medical professionals for education, referral, and recruitment of study subjects. ..
  23. Molecular Phenotypes for Cystic Fibrosis Lung Disease
    Michael Knowles; Fiscal Year: 2009
    ....
  24. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2005
    ..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. ..
  25. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2004
    ..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. ..
  26. Gamete membrane adhesion and fusion during fertilization
    William Snell; Fiscal Year: 2005
    ..Currently, the molecular mechanisms of gamete fusion are not understood in any organism. Understanding gamete fusion in Chlamydomonas should inform future studies on human reproduction. ..
  27. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2004
    ....
  28. MEMBRANE FUSION IN CHLAMYDOMONAS
    William Snell; Fiscal Year: 2001
    ..DESCRIPTION: This is a new application to study the molecular mechanism of adhesion and fusion between Chlamydomonas gametes. Preliminary findings for the application were accrued through the auspices of an NSF grant. ..
  29. Gamete membrane adhesion and fusion during fertilization
    William Snell; Fiscal Year: 2006
    ..Currently, the molecular mechanisms of gamete fusion are not understood in any organism. Understanding gamete fusion in Chlamydomonas should inform future studies on human reproduction. ..
  30. Gamete membrane adhesion and fusion during fertilization
    William Snell; Fiscal Year: 2004
    ..Currently, the molecular mechanisms of gamete fusion are not understood in any organism. Understanding gamete fusion in Chlamydomonas should inform future studies on human reproduction. ..
  31. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2006
    ..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. [unreadable] [unreadable]..
  32. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2009
    ..Studying flagellar adhesion and flagellar shortening in Chlamydomonas will continue to uncover novel and fundamental properties of these remarkable organelles. ..
  33. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William J Snell; Fiscal Year: 2010
    ..Studying flagellar adhesion and flagellar shortening in Chlamydomonas will continue to uncover novel and fundamental properties of these remarkable organelles. ..
  34. GAMETE MEMBRANE ADHESINO AND FUSION DURING FERTILIZATION
    William Snell; Fiscal Year: 2009
    ....
  35. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2008
    ..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. [unreadable] [unreadable]..
  36. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2009
    ..Studying flagellar adhesion and flagellar shortening in Chlamydomonas will continue to uncover novel and fundamental properties of these remarkable organelles. ..
  37. Gamete membrane adhesion and fusion during fertilization
    William J Snell; Fiscal Year: 2010
    ....
  38. Ethanol-mediated cilia motility dysfunction
    JOSEPH SISSON; Fiscal Year: 2007
    ....
  39. GAMETE MEMBRANE ADHESINO AND FUSION DURING FERTILIZATION
    William Snell; Fiscal Year: 2008
    ....
  40. Ethanol-mediated cilia motility dysfunction
    JOSEPH SISSON; Fiscal Year: 2008
    ....
  41. GAMETE MEMBRANE ADHESINO AND FUSION DURING FERTILIZATION
    William Snell; Fiscal Year: 2007
    ....
  42. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2007
    ..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. [unreadable] [unreadable]..
  43. GAMETE MEMBRANE ADHESINO AND FUSION DURING FERTILIZATION
    William Snell; Fiscal Year: 2009
    ..abstract_text> ..
  44. Gamete membrane adhesion and fusion during fertilization
    William Snell; Fiscal Year: 2003
    ..Currently, the molecular mechanisms of gamete fusion are not understood in any organism. Understanding gamete fusion in Chlamydomonas should inform future studies on human reproduction. ..
  45. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 1990
    ..4) Initiation of molecular genetic studies on agglutinin and signal transduction...
  46. MEMBRANE FUSION IN CHLAMYDOMONAS
    William Snell; Fiscal Year: 1999
    ..DESCRIPTION: This is a new application to study the molecular mechanism of adhesion and fusion between Chlamydomonas gametes. Preliminary findings for the application were accrued through the auspices of an NSF grant. ..
  47. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 1991
    ..4) Initiation of molecular genetic studies on agglutinin and signal transduction...
  48. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 1992
    ..4) Initiation of molecular genetic studies on agglutinin and signal transduction...
  49. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 1993
    ..4) Initiation of molecular genetic studies on agglutinin and signal transduction...
  50. ETHANOL AND ACETALDEHYDE-ALTERED CILIARY MOTILITY
    JOSEPH SISSON; Fiscal Year: 1999
    ....
  51. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2003
    ..abstract_text> ..
  52. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2003
    ....
  53. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2002
    ....
  54. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2002
    ....
  55. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2002
    ..abstract_text> ..
  56. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2001
    ..abstract_text> ..
  57. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2001
    ....
  58. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 2000
    ..abstract_text> ..
  59. ETHANOL MEDIATED CILIA MOTILITY DYSFUNCTION
    JOSEPH SISSON; Fiscal Year: 2000
    ....
  60. MEMBRANE FUSION IN CHLAMYDOMONAS
    William Snell; Fiscal Year: 2000
    ..DESCRIPTION: This is a new application to study the molecular mechanism of adhesion and fusion between Chlamydomonas gametes. Preliminary findings for the application were accrued through the auspices of an NSF grant. ..
  61. CELL SURFACE RECOGNITION AND CELL INTERACTIONS
    William Snell; Fiscal Year: 1980
    ..The mechanism of this aggregation-induced turnover of adhesion molecules is being investigated by use of 38S pulse-chase experiments, and protease treatment both of aggregating cells and of flagella isolated from aggregating cells. ..