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 MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
    Corey L Williams
    Department of Cell Biology, University of Alabama, Birmingham, AL 35294, USA
    J Cell Biol 192:1023-41. 2011
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. ncbi 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
  10. pmc Disruption of a ciliary B9 protein complex causes Meckel syndrome
    William E Dowdle
    Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, 94158, USA
    Am J Hum Genet 89:94-110. 2011

Research Grants

  1. Genetic Modifiers of CF Liver Disease
    Michael Knowles; Fiscal Year: 2008
  2. Genetic Disorders of Mucociliary Clearance
    Michael Knowles; Fiscal Year: 2008
  3. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
  4. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
  5. SODIUM-CALCUIM EXCHANGE IN THE RENAL MICROCIRCULATION
    Phillip Bell; Fiscal Year: 2003
  6. Cellular Mechanisms for Tubuloglomerular Feedback
    Phillip Bell; Fiscal Year: 2009
  7. Zic3 and the Control of Body Pattern Formation
    STEPHANIE WARE; Fiscal Year: 2005

Detail Information

Publications158 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 MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
    Corey L Williams
    Department of Cell Biology, University of Alabama, Birmingham, AL 35294, USA
    J Cell Biol 192:1023-41. 2011
    ....
  4. 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...
  5. 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)...
  6. 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
    ....
  7. 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...
  8. 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...
  9. ncbi 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
    ....
  10. pmc Disruption of a ciliary B9 protein complex causes Meckel syndrome
    William E Dowdle
    Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, 94158, USA
    Am J Hum Genet 89:94-110. 2011
    ..Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS...
  11. 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...
  12. 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...
  13. 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...
  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. 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...
  16. 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...
  17. ncbi 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...
  18. ncbi 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
    ....
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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
    ....
  24. 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
    ....
  25. pmc The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
    Anita Becker-Heck
    Department of Pediatrics, University Hospital Freiburg, Freiburg, Germany
    Nat Genet 43:79-84. 2011
    ..CCDC40 localizes to motile cilia and the apical cytoplasm and is required for axonemal recruitment of CCDC39, disruption of which underlies a similar variant of PCD...
  26. 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
    ....
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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"...
  32. 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...
  33. 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...
  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 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...
  36. 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...
  37. 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
  38. 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...
  39. ncbi 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...
  40. 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...
  41. 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...
  42. 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
  43. ncbi [The research progress of the nasal mucosal cilia]
    De Min Han
    Zhonghua Yi Xue Za Zhi 83:172-4. 2003
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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
    ....
  51. 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
    ....
  52. 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...
  53. 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...
  54. 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...
  55. 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
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. 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...
  65. 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...
  66. 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
  67. 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...
  68. 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...
  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. 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...
  71. pmc Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
    Ranad Shaheen
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Eur J Hum Genet 21:762-8. 2013
    ....
  72. ncbi Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it
    Claire Hogg
    The Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK
    Paediatr Respir Rev 10:44-50. 2009
    ..Recent advances in the screening and diagnostic tests available will be outlined, as well as some future directions that aim to enhance the current diagnostic techniques...
  73. ncbi Bronchiectasis and sino-nasal disease: a review
    C M Philpott
    Department of Otorhinolaryngology, Essex Rivers Healthcare NHS Trust, Colchester, UK
    J Laryngol Otol 122:11-5. 2008
    ....
  74. pmc Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    Jared C Roach
    Institute for Systems Biology, Seattle, WA 98103, USA
    Science 328:636-9. 2010
    ..Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four. Our results demonstrate the value of complete genome sequencing in families...
  75. 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...
  76. ncbi Bronchiectasis in children with recurrent pneumonia: an immunopathological damage associated with secondary ciliary dysmotility
    M Pifferi
    Department of Pediatrics, University of Pisa, Pisa, Italy
    Int J Immunopathol Pharmacol 21:215-9. 2008
    ..Whether ciliary dysmotility is a cause or a consequence of anatomical lesion is a matter of speculation. Very likely there is an amplification and self-maintaining mechanism between the two events which may lead to more serious disease...
  77. ncbi Bronchiectasis: the consequence of late diagnosis in chronic respiratory symptoms
    Deniz Dogru
    Department of Pediatrics, Pulmonary Medicine Unit, Hacettepe University, Ankara, Turkey
    J Trop Pediatr 51:362-5. 2005
    ..Early diagnosis and treatment will increase the quality of life and survival of patients with bronchiectasis, which has irreversible and progressive complications if untreated...
  78. 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...
  79. pmc The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
    Amanda C Leightner
    Department of Biochemistry and Molecular Biology, Division of Nephrology and Hypertension, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 22:2024-40. 2013
    ..Together, these data suggest that defective cilia loading, but not a global loss of ciliogenesis, basal body docking or PCP signaling leads to dysfunctional cilia in MKS3 tissues...
  80. 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...
  81. ncbi Ups and downs of nitric oxide in chesty children
    Simon Godfrey
    Institute of Pulmonology, Hadassah University Hospital, PO Box 12000, Jerusalem, Israel
    Am J Respir Crit Care Med 166:438-9. 2002
  82. ncbi Primary ciliary dyskinesia
    A Bush
    Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK
    Acta Otorhinolaryngol Belg 54:317-24. 2000
    ..Patients should be followed up by specialists familiar with the different ways of managing the upper and lower airway complications...
  83. 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...
  84. ncbi Ciliary assessment in bronchiectasis
    K W Tsang
    University Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, China
    Respirology 5:91-8. 2000
    ....
  85. 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...
  86. ncbi A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus
    M Eriksson
    Department of Molecular Medicine and Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
    Biochem Biophys Res Commun 281:835-41. 2001
    ..Expression of the mammalian homolog was detected in the adult testis. We suggest that this gene, which we have called Radial Spokehead-Like 1 (RSHL1), is a candidate gene for familial primary ciliary dyskinesia...
  87. ncbi 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...
  88. ncbi 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...
  89. 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...
  90. 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
  91. 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...
  92. ncbi Clinical variability in ciliary disorders
    Kirk Mykytyn
    Nat Genet 39:818-9. 2007
  93. 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...
  94. 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
    ....
  95. 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...
  96. 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...
  97. 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...
  98. 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...
  99. 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...
  100. 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...
  101. 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...

Research Grants8

  1. 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. ..
  2. 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. ..
  3. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  4. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  5. SODIUM-CALCUIM EXCHANGE IN THE RENAL MICROCIRCULATION
    Phillip Bell; Fiscal Year: 2003
    ....
  6. Cellular Mechanisms for Tubuloglomerular Feedback
    Phillip Bell; Fiscal Year: 2009
    ..Overall these studies should provide important new information regarding the role of ATP in macula densa signaling, activation of the tubuloglomerular feedback mechanism, and control of glomerular hemodynamics. ..
  7. 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. ..