cystic fibrosis

Summary

Summary: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.

Top Publications

  1. ncbi Cystic fibrosis
    Brian P O'Sullivan
    Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01655, USA
    Lancet 373:1891-904. 2009
  2. ncbi Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    J R Riordan
    Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1066-73. 1989
  3. pmc Genetic adaptation by Pseudomonas aeruginosa to the airways of cystic fibrosis patients
    Eric E Smith
    Genome Center, Program in Molecular and Cellular Biology, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 103:8487-92. 2006
  4. pmc Lung infections associated with cystic fibrosis
    Jeffrey B Lyczak
    Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Children s Hospital, Boston, MA 02115, USA
    Clin Microbiol Rev 15:194-222. 2002
  5. pmc Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study
    Josephine M Bryant
    Wellcome Trust Sanger Institute, Hinxton, UK
    Lancet 381:1551-60. 2013
  6. pmc A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
    Bonnie W Ramsey
    Seattle Children s Hospital and University of Washington School of Medicine, Seattle WA 98105 0371, USA
    N Engl J Med 365:1663-72. 2011
  7. pmc Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
    Fredrick Van Goor
    Vertex Pharmaceuticals, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 108:18843-8. 2011
  8. ncbi Cystic fibrosis
    Steven M Rowe
    Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    N Engl J Med 352:1992-2001. 2005
  9. pmc Effects of reduced mucus oxygen concentration in airway Pseudomonas infections of cystic fibrosis patients
    Dieter Worlitzsch
    Institute of General and Environmental Hygiene, University of Tubingen, Tubingen, Germany
    J Clin Invest 109:317-25. 2002
  10. pmc The changing microbial epidemiology in cystic fibrosis
    John J LiPuma
    Department of Pediatrics and Communicable Diseases, 1150 W Medical Center Drive, 8323 MSRB III, SPC 5646, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Clin Microbiol Rev 23:299-323. 2010

Detail Information

Publications348 found, 100 shown here

  1. ncbi Cystic fibrosis
    Brian P O'Sullivan
    Department of Pediatrics, University of Massachusetts Medical School, Worcester, MA 01655, USA
    Lancet 373:1891-904. 2009
    b>Cystic fibrosis is the most common lethal genetic disease in white populations...
  2. ncbi Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    J R Riordan
    Department of Biochemistry, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1066-73. 1989
    ..were isolated from epithelial cell libraries with a genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7...
  3. pmc Genetic adaptation by Pseudomonas aeruginosa to the airways of cystic fibrosis patients
    Eric E Smith
    Genome Center, Program in Molecular and Cellular Biology, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 103:8487-92. 2006
    ..We report here a detailed, whole-genome analysis of one such infection, that of a cystic fibrosis (CF) patient by the opportunistic bacterial pathogen Pseudomonas aeruginosa...
  4. pmc Lung infections associated with cystic fibrosis
    Jeffrey B Lyczak
    Channing Laboratory, Brigham and Women s Hospital, Harvard Medical School, Children s Hospital, Boston, MA 02115, USA
    Clin Microbiol Rev 15:194-222. 2002
    While originally characterized as a collection of related syndromes, cystic fibrosis (CF) is now recognized as a single disease whose diverse symptoms stem from the wide tissue distribution of the gene product that is defective in CF, ..
  5. pmc Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study
    Josephine M Bryant
    Wellcome Trust Sanger Institute, Hinxton, UK
    Lancet 381:1551-60. 2013
    Increasing numbers of individuals with cystic fibrosis are becoming infected with the multidrug-resistant non-tuberculous mycobacterium (NTM) Mycobacterium abscessus, which causes progressive lung damage and is extremely challenging to ..
  6. pmc A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
    Bonnie W Ramsey
    Seattle Children s Hospital and University of Washington School of Medicine, Seattle WA 98105 0371, USA
    N Engl J Med 365:1663-72. 2011
    Increasing the activity of defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is a potential treatment for cystic fibrosis.
  7. pmc Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
    Fredrick Van Goor
    Vertex Pharmaceuticals, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 108:18843-8. 2011
    b>Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs...
  8. ncbi Cystic fibrosis
    Steven M Rowe
    Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    N Engl J Med 352:1992-2001. 2005
  9. pmc Effects of reduced mucus oxygen concentration in airway Pseudomonas infections of cystic fibrosis patients
    Dieter Worlitzsch
    Institute of General and Environmental Hygiene, University of Tubingen, Tubingen, Germany
    J Clin Invest 109:317-25. 2002
    ..These studies indicate that novel therapies for CF include removal of hypoxic mucus plaques and antibiotics effective against P. aeruginosa adapted to anaerobic environments...
  10. pmc The changing microbial epidemiology in cystic fibrosis
    John J LiPuma
    Department of Pediatrics and Communicable Diseases, 1150 W Medical Center Drive, 8323 MSRB III, SPC 5646, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Clin Microbiol Rev 23:299-323. 2010
    Infection of the airways remains the primary cause of morbidity and mortality in persons with cystic fibrosis (CF)...
  11. pmc Autophagy stimulation by rapamycin suppresses lung inflammation and infection by Burkholderia cenocepacia in a model of cystic fibrosis
    Basant A Abdulrahman
    Center for Microbial Interface Biology, Department of Microbial Infection, Ohio State University, Columbus, OH, USA
    Autophagy 7:1359-70. 2011
    b>Cystic fibrosis (CF) is the most common inherited lethal disease of Caucasians which results in multi organ dysfunction. However, 85% of the deaths are due to pulmonary infections. Infection by Burkholderia cenocepacia (B...
  12. pmc Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
    J P Clancy
    Department of Pediatrics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Thorax 67:12-8. 2012
    VX-809, a cystic fibrosis transmembrane conductance regulator (CFTR) modulator, has been shown to increase the cell surface density of functional F508del-CFTR in vitro.
  13. pmc Evolutionary dynamics of bacteria in a human host environment
    Lei Yang
    Department of Systems Biology, Technical University of Denmark, 2800 Lyngby, Denmark
    Proc Natl Acad Sci U S A 108:7481-6. 2011
    ..opportunistic bacterial pathogen, Pseudomonas aeruginosa, as it adapts to the airways of several individual cystic fibrosis patients over 200,000 bacterial generations, and provide estimates of mutation rates of bacteria in a natural ..
  14. pmc The adult cystic fibrosis airway microbiota is stable over time and infection type, and highly resilient to antibiotic treatment of exacerbations
    Anthony A Fodor
    Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina, USA
    PLoS ONE 7:e45001. 2012
    b>Cystic fibrosis (CF) is characterized by defective mucociliary clearance and chronic airway infection by a complex microbiota...
  15. ncbi Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial
    Conroy Wong
    Department of Respiratory Medicine, Middlemore Hospital, Counties Manukau District Health Board, Auckland, New Zealand
    Lancet 380:660-7. 2012
    ..We tested the hypothesis that azithromycin would decrease the frequency of exacerbations, increase lung function, and improve health-related quality of life in patients with non-cystic fibrosis bronchiectasis.
  16. ncbi Identification of the cystic fibrosis gene: chromosome walking and jumping
    J M Rommens
    Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Science 245:1059-65. 1989
    An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning of the cystic fibrosis gene and definition of its protein product...
  17. pmc Dynamics of Pseudomonas aeruginosa genome evolution
    Kalai Mathee
    Department of Molecular Microbiology and Immunology, College of Medicine, School of Computing and Information Sciences, College of Engineering, Florida International University, Miami, FL 33199, USA
    Proc Natl Acad Sci U S A 105:3100-5. 2008
    ..aeruginosa strains isolated from cystic fibrosis (CF) patients whose genetic disorder predisposes them to infections by this pathogen...
  18. pmc Molecular identification of bacteria in bronchoalveolar lavage fluid from children with cystic fibrosis
    J Kirk Harris
    Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA
    Proc Natl Acad Sci U S A 104:20529-33. 2007
    ..bronchoalveolar lavage fluid (BALF) is the gold standard for detection of pathogens in the lower airways in cystic fibrosis (CF)...
  19. pmc Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection
    Maurizio Renna
    Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom
    J Clin Invest 121:3554-63. 2011
    ..Long-term use of azithromycin in patients with chronic inflammatory lung diseases, such as cystic fibrosis (CF), results in improved outcomes...
  20. ncbi Adaptation of Pseudomonas aeruginosa to the cystic fibrosis airway: an evolutionary perspective
    Anders Folkesson
    Department of Systems Biology, Technical University of Denmark, 2800 Lyngby, Denmark
    Nat Rev Microbiol 10:841-51. 2012
    The airways of patients with cystic fibrosis (CF) are nearly always infected with many different microorganisms...
  21. ncbi Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis
    Xiaodong Wang
    Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Cell 127:803-15. 2006
    ..Using proteomics to assess global cystic fibrosis (CF) transmembrane conductance regulator (CFTR) protein interactions (the CFTR interactome), we show that ..
  22. ncbi Pseudomonas biofilm formation and antibiotic resistance are linked to phenotypic variation
    Eliana Drenkard
    Department of Genetics, Harvard Medical School, Massahusetts General Hospital, Boston, MA 02114, USA
    Nature 416:740-3. 2002
    Colonization of the lungs of cystic fibrosis (CF) patients by the opportunistic bacterial pathogen Pseudomonas aeruginosa is the principal cause of mortality in CF populations...
  23. pmc Clinical significance of microbial infection and adaptation in cystic fibrosis
    Alan R Hauser
    Department of Microbiology Immunology, Northwestern University, 303 E Chicago Ave, Searle 6 495, Chicago, IL 60611, USA
    Clin Microbiol Rev 24:29-70. 2011
    A select group of microorganisms inhabit the airways of individuals with cystic fibrosis. Once established within the pulmonary environment in these patients, many of these microbes adapt by altering aspects of their structure and ..
  24. pmc Emergence of Pseudomonas aeruginosa strains producing high levels of persister cells in patients with cystic fibrosis
    Lawrence R Mulcahy
    Department of Biology and Antimicrobial Discovery Center, Northeastern University, Boston, Massachusetts 02115, USA
    J Bacteriol 192:6191-9. 2010
    The majority of cystic fibrosis (CF) patients succumb to a chronic infection of the airway with Pseudomonas aeruginosa...
  25. pmc CFTR: folding, misfolding and correcting the ΔF508 conformational defect
    Gergely L Lukacs
    Department of Physiology and GRASP, McGill University, Montreal, Quebec H3E 1Y6, Canada
    Trends Mol Med 18:81-91. 2012
    b>Cystic fibrosis (CF), the most common lethal genetic disease in the Caucasian population, is caused by loss-of-function mutations of the CF transmembrane conductance regulator (CFTR), a cyclic AMP-regulated plasma membrane chloride ..
  26. pmc Genomic variation among contemporary Pseudomonas aeruginosa isolates from chronically infected cystic fibrosis patients
    Jade C S Chung
    Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom
    J Bacteriol 194:4857-66. 2012
    The airways of individuals with cystic fibrosis (CF) often become chronically infected with unique strains of the opportunistic pathogen Pseudomonas aeruginosa. Several lines of evidence suggest that the infecting P...
  27. pmc Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2
    Fred A Wright
    Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    Nat Genet 43:539-46. 2011
    A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p...
  28. pmc The genome of Burkholderia cenocepacia J2315, an epidemic pathogen of cystic fibrosis patients
    Matthew T G Holden
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom
    J Bacteriol 191:261-77. 2009
    Bacterial infections of the lungs of cystic fibrosis (CF) patients cause major complications in the treatment of this common genetic disease...
  29. ncbi CXCR2 mediates NADPH oxidase-independent neutrophil extracellular trap formation in cystic fibrosis airway inflammation
    Veronica Marcos
    Research Center, Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Nat Med 16:1018-23. 2010
    ..We show the pathophysiological relevance of this mechanism in cystic fibrosis lung disease, characterized by chronic neutrophilic inflammation...
  30. pmc Metagenomic analysis of respiratory tract DNA viral communities in cystic fibrosis and non-cystic fibrosis individuals
    Dana Willner
    Department of Biology, San Diego State University, San Diego, California, USA
    PLoS ONE 4:e7370. 2009
    ..We obtained sequences from sputum DNA viral communities in 5 individuals with cystic fibrosis (CF) and 5 individuals without the disease...
  31. pmc Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    Fredrick Van Goor
    Vertex Pharmaceuticals Incorporated, 11010 Torreyana Road, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 106:18825-30. 2009
    b>Cystic fibrosis (CF) is a fatal genetic disease caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR), a protein kinase A (PKA)-activated epithelial anion channel involved in salt and fluid transport ..
  32. ncbi Genetic adaptation of Pseudomonas aeruginosa during chronic lung infection of patients with cystic fibrosis: strong and weak mutators with heterogeneous genetic backgrounds emerge in mucA and/or lasR mutants
    Oana Ciofu
    Department of International Health, Immunology and Microbiology, Faculty of Health Sciences, University of Copenhagen, Denmark
    Microbiology 156:1108-19. 2010
    During the chronic lung infection of patients with cystic fibrosis (CF), Pseudomonas aeruginosa can survive for long periods due to adaptive evolution mediated by genetic variation...
  33. pmc Mucus clearance as a primary innate defense mechanism for mammalian airways
    Michael R Knowles
    Cystic Fibrosis Pulmonary Research and Treatment Center, The University of North Carolina, Chapel Hill, North Carolina 27599, USA
    J Clin Invest 109:571-7. 2002
  34. pmc Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
    Philip M Farrell
    Department of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
    J Pediatr 153:S4-S14. 2008
    Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes...
  35. ncbi Dynamics of adaptive microevolution of hypermutable Pseudomonas aeruginosa during chronic pulmonary infection in patients with cystic fibrosis
    Christina Hoboth
    Max von Pettenkofer Institut fur Hygiene und Medizinische Mikrobiologie, Germany
    J Infect Dis 200:118-30. 2009
    In patients with cystic fibrosis (CF), the emergence of hypermutable Pseudomonas aeruginosa drives the selection of P. aeruginosa variants that are efficiently adapted to the inflamed lungs of these patients.
  36. pmc The Th17 pathway in cystic fibrosis lung disease
    Hui Leng Tan
    Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK
    Am J Respir Crit Care Med 184:252-8. 2011
    b>Cystic fibrosis (CF) is characterized by bronchoalveolar neutrophilia and submucosal lymphocytosis. We hypothesized that Th17 lymphocytes are part of this submucosal infiltrate.
  37. pmc Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation
    Frank J Accurso
    University of Colorado Denver and Children s Hospital, Aurora, CO 80045, USA
    N Engl J Med 363:1991-2003. 2010
    A new approach in the treatment of cystic fibrosis involves improving the function of mutant cystic fibrosis transmembrane conductance regulator (CFTR)...
  38. pmc Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype
    Jenny K Gustafsson
    Department of Medical Biochemistry, University of Gothenburg, 405 30 Gothenburg, Sweden
    J Exp Med 209:1263-72. 2012
    b>Cystic fibrosis (CF) is caused by a nonfunctional chloride and bicarbonate ion channel (CF transmembrane regulator [CFTR]), but the link to the phenomenon of stagnant mucus is not well understood...
  39. ncbi Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules
    Fredrick Van Goor
    Vertex Pharmaceuticals, 11010 Torreyana Road, San Diego, CA 92121, USA
    Am J Physiol Lung Cell Mol Physiol 290:L1117-30. 2006
    b>Cystic fibrosis (CF) is a fatal genetic disease caused by mutations in cftr, a gene encoding a PKA-regulated Cl(-) channel...
  40. ncbi Phenazine content in the cystic fibrosis respiratory tract negatively correlates with lung function and microbial complexity
    Ryan C Hunter
    Division of Biological Sciences, California Institute of Technology, Pasadena, CA 91125, USA
    Am J Respir Cell Mol Biol 47:738-45. 2012
    ..the chemistry of infected environments, we measured phenazine abundance in the lungs of patients with cystic fibrosis (CF)...
  41. pmc Prevalence of streptococci and increased polymicrobial diversity associated with cystic fibrosis patient stability
    L M Filkins
    Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA
    J Bacteriol 194:4709-17. 2012
    Diverse microbial communities chronically colonize the lungs of cystic fibrosis patients...
  42. pmc Spatial distribution of microbial communities in the cystic fibrosis lung
    Dana Willner
    Department of Biology, San Diego State University, San Diego, CA, USA
    ISME J 6:471-4. 2012
    b>Cystic fibrosis (CF) is a common fatal genetic disorder with mortality most often resulting from microbial infections of the lungs...
  43. ncbi The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells
    G L Lukacs
    Research Institute, Hospital for Sick Children, Toronto, Canada
    J Biol Chem 268:21592-8. 1993
    Deletion of the phenylalanine at position 508 of the cystic fibrosis transmembrane conductance regulator (CFTR) is the most prevalent mutation in cystic fibrosis (CF)...
  44. pmc Quorum sensing and virulence of Pseudomonas aeruginosa during lung infection of cystic fibrosis patients
    Thomas Bjarnsholt
    Institute for International Health, Immunology and Microbiology, University of Copenhagen, Copenhagen, Denmark
    PLoS ONE 5:e10115. 2010
    Pseudomonas aeruginosa is the predominant microorganism in chronic lung infection of cystic fibrosis patients. The chronic lung infection is preceded by intermittent colonization...
  45. ncbi Ultrastructural characterization of cystic fibrosis sputum using atomic force and scanning electron microscopy
    Reinhard Manzenreiter
    School of Applied Health and Social Sciences, Upper Austria University of Applied Sciences, Linz, Austria
    J Cyst Fibros 11:84-92. 2012
    b>Cystic fibrosis (CF) lung disease is characterized by perpetuated neutrophilic inflammation with progressive tissue destruction...
  46. pmc Neutrophil elastase enhances sputum solubilization in cystic fibrosis patients receiving DNase therapy
    Venizelos Papayannopoulos
    Department of Cellular Microbiology, Max Planck Institute for Infection Biology, Berlin, Germany
    PLoS ONE 6:e28526. 2011
    b>Cystic fibrosis patients suffer from chronic lung infection and inflammation due to the secretion of viscous sputum...
  47. pmc Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs
    Christopher S Rogers
    Department of Internal Medicine, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
    Science 321:1837-41. 2008
    Almost two decades after CFTR was identified as the gene responsible for cystic fibrosis (CF), we still lack answers to many questions about the pathogenesis of the disease, and it remains incurable...
  48. ncbi Genetic modifiers of lung disease in cystic fibrosis
    Mitchell L Drumm
    Department of Pediatrics, Case Western Reserve University, Cleveland, USA
    N Engl J Med 353:1443-53. 2005
    Polymorphisms in genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene may modify the severity of pulmonary disease in patients with cystic fibrosis.
  49. ncbi Detection of anaerobic bacteria in high numbers in sputum from patients with cystic fibrosis
    Michael M Tunney
    School of Pharmacy, Medical Biology Centre, Queen s University Belfast, Belfast, United Kingdom
    Am J Respir Crit Care Med 177:995-1001. 2008
    Pulmonary infection in cystic fibrosis (CF) is polymicrobial and it is possible that anaerobic bacteria, not detected by routine aerobic culture methods, reside within infected anaerobic airway mucus.
  50. pmc Decade-long bacterial community dynamics in cystic fibrosis airways
    Jiangchao Zhao
    Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 109:5809-14. 2012
    The structure and dynamics of bacterial communities in the airways of persons with cystic fibrosis (CF) remain largely unknown...
  51. pmc Partitioning core and satellite taxa from within cystic fibrosis lung bacterial communities
    Christopher J van der Gast
    NERC Centre for Ecology and Hydrology, Wallingford, UK
    ISME J 5:780-91. 2011
    b>Cystic fibrosis (CF) patients suffer from chronic bacterial lung infections that lead to death in the majority of cases. The need to maintain lung function in these patients means that characterising these infections is vital...
  52. pmc A polymicrobial perspective of pulmonary infections exposes an enigmatic pathogen in cystic fibrosis patients
    Christopher D Sibley
    Department of Microbiology and Infectious Diseases, University of Calgary, Calgary, AB, Canada T2N 4N1
    Proc Natl Acad Sci U S A 105:15070-5. 2008
    Lung disease is the leading cause of morbidity and mortality in cystic fibrosis (CF) patients...
  53. ncbi Pseudomonas aeruginosa population diversity and turnover in cystic fibrosis chronic infections
    Eilidh Mowat
    Institute of Infection and Global Health, University of Liverpool, Liverpool L69 3GA, UK
    Am J Respir Crit Care Med 183:1674-9. 2011
    Pseudomonas aeruginosa isolates from chronic cystic fibrosis lung infections display multiple phenotypes indicating extensive population diversity.
  54. pmc Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences
    Juan L Mendoza
    Molecular Biophysics Program, and Department of Physiology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9040, USA
    Cell 148:164-74. 2012
    Misfolding of ΔF508 cystic fibrosis (CF) transmembrane conductance regulator (CFTR) underlies pathology in most CF patients...
  55. ncbi Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening
    Joseph L Bobadilla
    Department of Pediatrics, University of Wisconsin, Madison, Wisconsin, USA
    Hum Mutat 19:575-606. 2002
    ..have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles ..
  56. ncbi New concepts of the pathogenesis of cystic fibrosis lung disease
    R C Boucher
    Cystic Fibrosis Pulmonary Research and Treatment Center, 7011 Thurston Bowles Building, CB 7248, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    Eur Respir J 23:146-58. 2004
    Although there has been impressive progress in the elucidation of the genetic and molecular basis of cystic fibrosis (CF), the pathogenesis of CF lung disease remains obscure...
  57. pmc In vivo evidence of Pseudomonas aeruginosa nutrient acquisition and pathogenesis in the lungs of cystic fibrosis patients
    Mike S Son
    Department of Microbiology, College of Natural Sciences, University of Hawaii at Manoa, Honolulu, HI 96822, USA
    Infect Immun 75:5313-24. 2007
    One of the hallmarks of Pseudomonas aeruginosa infection in cystic fibrosis (CF) patients is very-high-cell-density (HCD) replication in the lung, allowing this bacterium to induce virulence controlled by the quorum-sensing systems...
  58. ncbi Bacterial hypermutation in cystic fibrosis, not only for antibiotic resistance
    A Oliver
    Servicio de Microbiología and Unidad de Investigación, Hospital Son Dureta, Instituto Universitario de Investigación en Ciencias de la Salud, Palma de Mallorca, Spain
    Clin Microbiol Infect 16:798-808. 2010
    ..Among them, chronic respiratory infection with Pseudomonas aeruginosa in cystic fibrosis (CF) patients was the first natural environment to reveal the high prevalence and important role of mutators...
  59. pmc Phylogenetic and metabolic diversity of bacteria associated with cystic fibrosis
    Adam M Guss
    Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA
    ISME J 5:20-9. 2011
    In patients afflicted with cystic fibrosis (CF), morbidity and mortality are primarily associated with the adverse consequences of chronic microbial bronchial infections, which are thought to be caused by a few opportunistic pathogens...
  60. pmc Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis
    Xingshen Sun
    Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    J Clin Invest 120:3149-60. 2010
    b>Cystic fibrosis (CF) is a recessive disease that affects multiple organs. It is caused by mutations in CFTR...
  61. ncbi Nontuberculous mycobacteria. I: multicenter prevalence study in cystic fibrosis
    Kenneth N Olivier
    The Cystic Fibrosis Pulmonary Research and Treatment Center, The Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
    Am J Respir Crit Care Med 167:828-34. 2003
    Nontuberculous mycobacteria (NTM) are potential respiratory pathogens in cystic fibrosis (CF)...
  62. ncbi Pseudomonas aeruginosa anaerobic respiration in biofilms: relationships to cystic fibrosis pathogenesis
    Sang Sun Yoon
    Department of Molecular Genetics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
    Dev Cell 3:593-603. 2002
    Recent data indicate that cystic fibrosis (CF) airway mucus is anaerobic. This suggests that Pseudomonas aeruginosa infection in CF reflects biofilm formation and persistence in an anaerobic environment. P...
  63. ncbi Adaptation of Pseudomonas aeruginosa during persistence in the cystic fibrosis lung
    Michael Hogardt
    Bavarian Health and Food Safety Authority, Oberschleissheim, Germany
    Int J Med Microbiol 300:557-62. 2010
    The long-term persistance of P. aeruginosa in the cystic fibrosis (CF) lung is characterized by the selection of a variety of genotypes and phenotypes that typically descend from one infecting P...
  64. pmc Pseudomonas aeruginosa rugose small-colony variants have adaptations that likely promote persistence in the cystic fibrosis lung
    Melissa Starkey
    Department of Microbiology, University of Washington, Seattle, WA 98195 7242, USA
    J Bacteriol 191:3492-503. 2009
    ..Both laboratory biofilm growth and chronic cystic fibrosis (CF) airway infections produce rugose small-colony variants (RSCVs) characterized by wrinkled, small colonies ..
  65. pmc Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
    Nicoletta Pedemonte
    Department of Medicine, UCSF, San Francisco, California 94143 0521, USA
    J Clin Invest 115:2564-71. 2005
    The most common cause of cystic fibrosis (CF) is deletion of phenylalanine 508 (DeltaF508) in the CF transmembrane conductance regulator (CFTR) chloride channel...
  66. ncbi Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease
    H Matsui
    Cystic Fibrosis Pulmonary Research and Treatment Center, The University of North Carolina at Chapel Hill, 27599 7248, USA
    Cell 95:1005-15. 1998
    The pathogenesis of cystic fibrosis (CF) airways infection is unknown...
  67. pmc Inflammasome-mediated IL-1β production in humans with cystic fibrosis
    Anthony Tang
    Department of Microbiology and Immunology, University of British Columbia, Vancouver, British Columbia, Canada
    PLoS ONE 7:e37689. 2012
    ..major determinants of disease severity and consequently, the quality of life and outcome for patients with cystic fibrosis (CF). Interleukin-1 beta (IL-1β) is a key inflammatory mediator...
  68. ncbi Pulmonary exacerbation: towards a definition for use in clinical trials. Report from the EuroCareCF Working Group on outcome parameters in clinical trials
    D Bilton
    Royal Brompton Hospital, Respiratory Medicine, London, UK
    J Cyst Fibros 10:S79-81. 2011
    Pulmonary exacerbations represent a key outcome variable in clinical trials of cystic fibrosis (CF)...
  69. ncbi CFTR function and prospects for therapy
    John R Riordan
    Department of Biochemistry and Biophysics, Cystic Fibrosis Treatment and Research Center, School of Medicine, University of North Carolina at Chapel Hill, NC 27599, USA
    Annu Rev Biochem 77:701-26. 2008
    Mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) epithelial anion channel cause cystic fibrosis (CF)...
  70. ncbi Ivacaftor potentiation of multiple CFTR channels with gating mutations
    Haihui Yu
    Vertex Pharmaceuticals Incorporated, Cambridge, MA 02139, USA
    J Cyst Fibros 11:237-45. 2012
    ..The aim of this in vitro study was to determine whether ivacaftor potentiates mutant CFTR with gating defects caused by other CFTR gating mutations...
  71. pmc Pulmonary proteases in the cystic fibrosis lung induce interleukin 8 expression from bronchial epithelial cells via a heme/meprin/epidermal growth factor receptor/Toll-like receptor pathway
    Sonya Cosgrove
    Respiratory Research Division, Department of Medicine, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin 9, Ireland
    J Biol Chem 286:7692-704. 2011
    A high intrapulmonary protease burden is characteristic of cystic fibrosis (CF), and the resulting dysregulation of the protease/anti-protease balance has serious implications for inflammation in the CF lung...
  72. ncbi Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
    Alessandro Luciani
    European Institute for Research in Cystic Fibrosis, San Raffaele Scientific Institute, Milan 20132, Italy
    Nat Cell Biol 12:863-75. 2010
    Accumulation of unwanted/misfolded proteins in aggregates has been observed in airways of patients with cystic fibrosis (CF), a life-threatening genetic disorder caused by mutations in the gene encoding the cystic fibrosis transmembrane ..
  73. ncbi Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients
    Tim W R Lee
    Leeds Regional Paediatric Cystic Fibrosis Centre, St James s Hospital, Leeds, UK
    J Cyst Fibros 2:29-34. 2003
    ....
  74. ncbi Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis
    Isabelle Sermet-Gaudelus
    Hopital Necker Enfants Malades, Paris, France
    Am J Respir Crit Care Med 182:1262-72. 2010
    Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately 10% of patients...
  75. pmc Pulmonary bacteriophage therapy on Pseudomonas aeruginosa cystic fibrosis strains: first steps towards treatment and prevention
    Eric Morello
    Molecular Biology of the Gene in Extremophiles Unit, Department of Microbiology, Institut Pasteur, Paris, France
    PLoS ONE 6:e16963. 2011
    ..lung-infection model caused by a multidrug resistant Pseudomonas aeruginosa mucoid strain isolated from a cystic fibrosis patient, we evaluated bacteriophage treatments...
  76. pmc Biological and structural basis for Aha1 regulation of Hsp90 ATPase activity in maintaining proteostasis in the human disease cystic fibrosis
    Atanas V Koulov
    Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Mol Biol Cell 21:871-84. 2010
    ..the ability of the Hsp90 system to modulate the folding and trafficking of wild-type and variant (DeltaF508) cystic fibrosis transmembrane conductance regulator (CFTR) responsible for the inherited disease cystic fibrosis (CF)...
  77. ncbi Mucins, mucus, and sputum
    Judith A Voynow
    Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA
    Chest 135:505-12. 2009
    ..production is the hallmark of chronic inflammatory airway diseases such as asthma, chronic bronchitis, and cystic fibrosis (CF)...
  78. pmc Airway microbiota and pathogen abundance in age-stratified cystic fibrosis patients
    Michael J Cox
    Department of Medicine, University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 5:e11044. 2010
    Bacterial communities in the airways of cystic fibrosis (CF) patients are, as in other ecological niches, influenced by autogenic and allogenic factors...
  79. pmc Chloride channels as drug targets
    Alan S Verkman
    Departments of Medicine and Physiology, University of California, San Francisco, California 94143 0521, USA
    Nat Rev Drug Discov 8:153-71. 2009
    ..Mutations in several chloride channels cause human diseases, including cystic fibrosis, macular degeneration, myotonia, kidney stones, renal salt wasting and hyperekplexia...
  80. ncbi Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice
    Marcus Mall
    Cystic Fibrosis Pulmonary Research and Treatment Center, School of Medicine, The University of North Carolina at Chapel Hill, 7011 Thurston Bowles Building, Chapel Hill, North Carolina 27599 7248, USA
    Nat Med 10:487-93. 2004
    Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in defective epithelial cAMP-dependent Cl(-) secretion and increased airway Na(+) absorption...
  81. ncbi New insights into cystic fibrosis: molecular switches that regulate CFTR
    William B Guggino
    Department of Physiology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Rev Mol Cell Biol 7:426-36. 2006
    b>Cystic fibrosis transmembrane conductance regulator (CFTR), a Cl(-)-selective ion channel, is a prototypic member of the ATP-binding cassette transporter superfamily that is expressed in several organs...
  82. ncbi Pseudomonas aeruginosa biofilms in cystic fibrosis
    Niels Høiby
    Department of Clinical Microbiology 9301, Rigshospitalet, University of Copenhagen, Juliane Maries Vej 22, Copenhagen, Denmark
    Future Microbiol 5:1663-74. 2010
    The persistence of chronic Pseudomonas aeruginosa lung infections in cystic fibrosis (CF) patients is due to biofilm-growing mucoid (alginate-producing) strains...
  83. pmc Metabolic network analysis of Pseudomonas aeruginosa during chronic cystic fibrosis lung infection
    Matthew A Oberhardt
    Department of Biomedical Engineering, University of Virginia, Box 800759, Health System, Charlottesville, Virginia 22908, USA
    J Bacteriol 192:5534-48. 2010
    ..data with a genome-scale metabolic reconstruction of Pseudomonas aeruginosa in the context of a chronic cystic fibrosis (CF) lung infection. A genome-scale reconstruction of P...
  84. ncbi Inhaled medication and inhalation devices for lung disease in patients with cystic fibrosis: A European consensus
    Harry Heijerman
    Haga Teaching Hospital, Department of Pulmonology, The Hague, The Netherlands
    J Cyst Fibros 8:295-315. 2009
    In cystic fibrosis inhalation of drugs for the treatment of CF related lung disease has been proven to be highly effective...
  85. ncbi Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR
    Andrei A Aleksandrov
    Department of Biomedical Engineering, University of North Carolina Chapel Hill, Chapel Hill, NC 27599, USA
    J Mol Biol 401:194-210. 2010
    The cystic fibrosis transmembrane conductance regulator (CFTR) epithelial anion channel is a large multidomain membrane protein that matures inefficiently during biosynthesis...
  86. ncbi The airway microbiome in cystic fibrosis and implications for treatment
    Edith T Zemanick
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado, USA
    Curr Opin Pediatr 23:319-24. 2011
    Lung disease in cystic fibrosis (CF) results from chronic airway infection and inflammation leading to progressive bronchiectasis and respiratory failure...
  87. pmc Culture enriched molecular profiling of the cystic fibrosis airway microbiome
    Christopher D Sibley
    Department of Microbiology and Infectious Diseases, University of Calgary, Calgary, Alberta, Canada
    PLoS ONE 6:e22702. 2011
    ..The cystic fibrosis (CF) airway microbiome refers to the polymicrobial communities present in the lower airways of CF patients...
  88. ncbi The polymicrobial nature of airway infections in cystic fibrosis: Cangene Gold Medal Lecture
    Christopher D Sibley
    Department of Microbiology and Infectious Diseases, University of Calgary, 3330 Hospital Drive NW, Calgary, AB T2N 4N1, Canada
    Can J Microbiol 57:69-77. 2011
    Microbial communities characterize the airways of cystic fibrosis (CF) patients...
  89. ncbi Cystic fibrosis: insight into CFTR pathophysiology and pharmacotherapy
    Bob Lubamba
    Louvain Centre for Toxicology and applied Pharmacology, Institut de Recherche Expérimentale et Clinique, Centre des Sciences de Santé, Universite Catholique de Louvain, Ave Hippocrate 10, B 1200 Brussels, Belgium
    Clin Biochem 45:1132-44. 2012
    b>Cystic fibrosis is the most common life-threatening recessively inherited disease in Caucasians. Due to early provision of care in specialized reference centers and more comprehensive care, survival has improved over time...
  90. pmc Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung
    Alejandro A Pezzulo
    Department of Medicine, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    Nature 487:109-13. 2012
    b>Cystic fibrosis (CF) is a life-shortening disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene...
  91. ncbi Influence of DNA on the activities and inhibition of neutrophil serine proteases in cystic fibrosis sputum
    Alice V Dubois
    INSERM U Pathologies Respiratoires protéolyse and aérosolthérapie, Tours, France
    Am J Respir Cell Mol Biol 47:80-6. 2012
    Uncontrolled proteolysis by neutrophil serine proteases (NSPs) in lung secretions is a hallmark of cystic fibrosis (CF)...
  92. pmc Adaptive evolution of Staphylococcus aureus during chronic endobronchial infection of a cystic fibrosis patient
    Paul R McAdam
    The Roslin Institute and Centre for Infectious Diseases, Royal Dick School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, United Kingdom
    PLoS ONE 6:e24301. 2011
    ..aureus isolates obtained sequentially over 26 months from the airways of a cystic fibrosis patient, revealed variation in phage content, and genetic polymorphisms in genes which influence antibiotic ..
  93. ncbi Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis
    Julia Emerson
    Division of Pulmonary Medicine, Department of Pediatrics, University of Washington, Seattle, USA
    Pediatr Pulmonol 34:91-100. 2002
    ..study to determine prognostic indicators of 8-year mortality and morbidity in young children with cystic fibrosis (CF). Patients ages 1-5 years from the 1990 U.S...
  94. ncbi Pulmonary exacerbations are associated with subsequent FEV1 decline in both adults and children with cystic fibrosis
    Don B Sanders
    Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA
    Pediatr Pulmonol 46:393-400. 2011
    Patients with cystic fibrosis (CF) frequently experience pulmonary exacerbations that may lead to a faster subsequent decline in pulmonary function; however, this relationship has not been clearly established...
  95. pmc Evolving stealth: genetic adaptation of Pseudomonas aeruginosa during cystic fibrosis infections
    Dao Nguyen
    Department of Medicine, University of Washington School of Medicine, 1959 Northeast Pacific Street, Room G 310, Seattle, WA 98195 7242, USA
    Proc Natl Acad Sci U S A 103:8305-6. 2006
  96. pmc The penetration of fresh undiluted sputum expectorated by cystic fibrosis patients by non-adhesive polymer nanoparticles
    Jung Soo Suk
    Department of Biomedical Engineering, The Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA
    Biomaterials 30:2591-7. 2009
    ..sputum has precluded efficient nanoparticle-based drug and gene delivery to the lungs of patients with cystic fibrosis (CF)...
  97. pmc Cystic fibrosis: terminology and diagnostic algorithms
    K De Boeck
    Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Herestraat 49, 3000 Leuven, Belgium
    Thorax 61:627-35. 2006
    There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF)...
  98. pmc Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia
    Jeng Haur Chen
    Department of Internal Medicine, University of Iowa, Iowa City, 52242, USA
    Cell 143:911-23. 2010
    Defective transepithelial electrolyte transport is thought to initiate cystic fibrosis (CF) lung disease. Yet, how loss of CFTR affects electrolyte transport remains uncertain...
  99. ncbi LL-37 complexation with glycosaminoglycans in cystic fibrosis lungs inhibits antimicrobial activity, which can be restored by hypertonic saline
    Gudmundur Bergsson
    Department of Medicine, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin, Ireland
    J Immunol 183:543-51. 2009
    There is an abundance of antimicrobial peptides in cystic fibrosis (CF) lungs. Despite this, individuals with CF are susceptible to microbial colonization and infection...
  100. ncbi Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health
    Patrick A Flume
    Department of Medicine, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Am J Respir Crit Care Med 176:957-69. 2007
    b>Cystic fibrosis is a recessive genetic disease characterized by dehydration of the airway surface liquid and impaired mucociliary clearance...
  101. pmc Genetic adaptation of Pseudomonas aeruginosa to the airways of cystic fibrosis patients is catalyzed by hypermutation
    A Mena
    Servicio de Microbiologia, Hospital Son Dureta, Instituto Universitario de Investigación en Ciencias de la Salud IUNICS, Palma de Mallorca, Spain
    J Bacteriol 190:7910-7. 2008
    ..Pseudomonas aeruginosa undergoes intense genetic adaptation during chronic respiratory infection (CRI) in cystic fibrosis (CF) patients...

Research Grants79

  1. Periodontal Biomaterials with BITE (Biofilm Immunity via T-cell Enhancement)
    James D Bryers; Fiscal Year: 2012
    ..Well-recognized infections involving biofilms include bacterial endocarditis, cystic fibrosis lung infections, deep wound healing, the current dental caries epidemic, periodontal disease, vaginosis, ..
  2. BIOSYNTHESIS OF TRACHEAL MUCOUS GLYCOPROTEINS
    Pi Wan Cheng; Fiscal Year: 2010
    Mucus hypersecretion is a hallmark of obstructive lung diseases, including chronic bronchitis, asthma, and cystic fibrosis. This condition is the result of hypertrophy and hyperplasia of mucus cells...
  3. Pathobiology of Cystic Fibrosis-Related Diabetes in a Ferret Model
    Zoe Stewart; Fiscal Year: 2013
    ..John Engelhardt, a national authority on the molecular pathophysiology of cystic fibrosis (CF) and strategies to utilize recombinant adenovirus-associated viruses (rAAV) as gene therapy vectors. Dr...
  4. Regulation of Airway Mucin Gene Expression by Epigenetic Mechanism
    Reen Wu; Fiscal Year: 2013
    ..mucin overproduction is one of major clinical symptoms associated with various lung diseases, such as asthma, cystic fibrosis, bronchitis, chronic obstructive pulmonary diseases, etc...
  5. Unbiased genome-wide screen to identify genes regulating mucous cell hyperplasia
    Jeffrey A Whitsett; Fiscal Year: 2010
    ..and function accompany and contribute to the pathogenesis of common pulmonary diseases, including asthma, cystic fibrosis (CF), and chronic obstructive pulmonary disease (COPD)...
  6. Novel Macrolide Th17 Inhibitors
    Jay K Kolls; Fiscal Year: 2012
    ..their cytokine products, IL-17A and IL-17F have been implicated in chronic inflammatory diseases including cystic fibrosis, COPD and steroid resistant asthma...
  7. New therapeutics for the treatment of Acinetobactor baumannii infections.
    ALLEN BERNARD REITZ; Fiscal Year: 2013
    ..In addition, A. baumannii biofilms have been implicated in cystic fibrosis, periodontitis and urinary tract infections, due to the bacteria's ability to colonize indwelling ..
  8. Dependency of O-3 Induced Lung Mucus Hypersecretion on NQ01
    W Michael Foster; Fiscal Year: 2010
    ..For patients with asthma, chronic obstructive pulmonary disease (COPD), and cystic fibrosis, mucus hypersecretion is now being considered as a risk factor for increased morbidity...
  9. WIDEBAND CLINICAL DIAGNOSIS AND MONITORING OF MIDDLE-EAR AND COCHLEAR FUNCTION
    Douglas H Keefe; Fiscal Year: 2013
    ..the extended bandwidth of the CEOAE at least out to 10 kHz is well suited to detect early hearing loss in cystic fibrosis patients receiving ototoxic medications...
  10. Liver disease in CF: CFTR controls innate immunity in biliary epithelium
    Mario Strazzabosco; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cystic Fibrosis (CF) is a common and clinically severe genetic disease, caused by mutations in CFTR, a membrane protein that mediates Cl- and fluid secretion in a number of secretory epithelia, ..
  11. Inhibitors of isoprenoid synthesis for antibacterial therapy
    Donald T Moir; Fiscal Year: 2013
    ..g., HIV and cancer), cystic fibrosis patients, and those on mechanical ventilation or with burn wounds...
  12. Use of Phosphodiesterase Inhibitors to Evaluate the Pathobiology of CF
    JENNIFER L TAYLOR-COUSAR; Fiscal Year: 2013
    ..and translational research that contributes to the understanding of the pathophysiology and treatment of Cystic Fibrosis (CF) lung disease...
  13. Iowa Phase II Clinical Trials of Novel Therapies for Lung Diseases (U01
    Lakshmi Durairaj; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Cystic fibrosis (CF) is characterized by chronic bacterial airway infection with progressive destruction which contributes to 95% of the mortality from this disease...
  14. Mechanisms and Enviromental Determinants of Rhinovirus Illness Severity
    James E Gern; Fiscal Year: 2013
    ..including bronchiolitis, influenza-like illness, and exacerbations of chronic lung diseases such as asthma, cystic fibrosis, and chronic obstructive lung disease (COPD)...
  15. High-affinity RNA targets of Survival Motor Neuron Protein
    Ravindra N Singh; Fiscal Year: 2013
    ..on the frequency of occurrence, SMA is ranked as the second leading genetic cause of infant mortality after cystic fibrosis. Most cases of SMA are associated with the low levels of SMN protein due to deletion or mutation of Survival ..
  16. MOUSE MODEL FOR DISEASES OF PROTEIN MISFOLDING
    P Michael Conn; Fiscal Year: 2012
    ..Diseases caused by misfolding (which may benefit from this approach) include cystic fibrosis, hypogonadotropic hypogonadism, nephrogenic diabetes insipidus, retinitis pigmentosa, hypercholesterolemia, ..
  17. Mechanism of Translation Elongation Factor 2 Inhibition by Bacterial Toxins
    Terri Goss Kinzy; Fiscal Year: 2010
    ..Infections with P. aeruginosa are a particular concern for a subset of patients such as those with cancer, cystic fibrosis or reduced immune function, in particular as multidrug-resistant strains have emerged...
  18. Characterization of the ER associated Biogenesis and Degradation of ENaC
    Teresa M Buck; Fiscal Year: 2013
    ..In addition to ENaC, many other disease relevant proteins can also become ERAD substrates, including CFTR (cystic fibrosis), AQP2 (nephrogenic diabetes insipidus), and Pael-R (Parkinson's disease)...
  19. Biliary Atresia, Cholestatic Liver Diseases, and Cystic Fibrosis: Indiana Univers
    Jean Pappas Molleston; Fiscal Year: 2013
    ..Familial Intrahepatic Cholestasis (PFIC), bile acid synthetic defects, mitochondrial hepatopathies, and cystic fibrosis. All of these diseases can progress to cirrhosis and endstage liver disease...
  20. Mechanisms of adaptive immunity to P. aeruginosa in the lung
    Gregory P Priebe; Fiscal Year: 2013
    ..in hospitalized patients (usually associated with mechanical ventilation) or chronic pneumonia in people with cystic fibrosis (CF)...
  21. MNEI/SerpinB1: A modulator of innate pulmonary defense
    EILEEN REMOLD-O'DONNELL; Fiscal Year: 2010
    ..at inflammatory sites by degranulating or necrotic neutrophils are major contributors to the pathology of cystic fibrosis and chronic obstructive pulmonary disease (COPD)...
  22. Fatty Acid Defects &Oxidative Stress Modulate Islet Function in Cystic Fibrosis
    Aliye Uc; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cystic fibrosis related diabetes (CFRD) is one of the most significant co-morbidities in Cystic Fibrosis (CF), affecting almost half of patients over 30 years of age...
  23. GROWTH REGULATION OF THE INTRAHEPATIC BILIARY TREE
    GIANFRANCO D ALPINI; Fiscal Year: 2010
    ..factor, NFAT, stimulates small cholangiocyte proliferation with activation of secretin receptor (SR) and cystic fibrosis transmembrane regulator (CFTR) expression;(ii) neural- dependent modulation of the cAMP-dependent ..
  24. Cyclic AMP Signaling in Pseudomonas aeruginosa Virulence
    Matthew C Wolfgang; Fiscal Year: 2011
    ..for nearly 10% of hospital-acquired infections and is the primary cause of morbidity and mortality in cystic fibrosis patients. P...
  25. Development of Bioactive Chemical Probes for Calcium-activated Chloride Channel
    Min Li; Fiscal Year: 2012
    ..Abnormality of CaCC is thought to be causal to diseases, such as cystic fibrosis, asthma, chronic bronchitis, and hypertension...
  26. Research Career Development in Child Health
    Michael W Konstan; Fiscal Year: 2012
    ..and evolution of numerous childhood diseases, including lung disease associated with prematurity, cystic fibrosis, asthma, pneumonia, sepsis, cancer, coagulation disorders, bone marrow transplantation, diabetes, obesity and ..
  27. Colorado Center for Childhood Liver Disease Research and Education
    Ronald J Sokol; Fiscal Year: 2013
    ..intrahepatic cholestasis, bile acid synthesis defects, mitochondrial hepatopathies, and, most recently, cystic fibrosis liver disease...
  28. The Pittsburgh Cholestatic Liver Disease Consortium
    Benjamin L Shneider; Fiscal Year: 2013
    ..including Alagille syndrome, alpha-1 antitrypsin deficiency, bile acid synthesis defects, biliary atresia, cystic fibrosis, mitochondrial hepatopathies and progressive familial intrahepatic cholestasis, lead to significant morbidity ..
  29. Mechanisms to restrain social cheating from quorum sensing in Pseudomonas aerugin
    AJAI DANDEKAR; Fiscal Year: 2013
    ..aeruginosa is a leading cause of morbidity and mortality in the genetic disease cystic fibrosis (CF)...
  30. Haemophilus influenzae iron/heme regulon
    Terrence L Stull; Fiscal Year: 2012
    ..is a major cause of childhood ear infections and pneumonia in adults who have other conditions, such as cystic fibrosis or HIV/AIDS, predisposing them to infections...
  31. Counter-Regulation of TLR-Driven Mucosal Inflammation
    Erik P Lillehoj; Fiscal Year: 2010
    b>Cystic fibrosis (CF) is an inherited lung disease characterized by mucus hypersecretion, reduced mucociliary clearance of inhaled bacteria, particularly Pseudomonas aeruginosa (PA), and chronic airway inflammation...
  32. Bacterial Immunosuppression: Host Target Identification Through Chemical Probes
    Kim D Janda; Fiscal Year: 2013
    ..aeruginosa infections of cystic fibrosis patients...
  33. Translational Approaches to Reducing Health Disparities in Lung Disease
    Joe G N Garcia; Fiscal Year: 2012
    ..Caucasians followed by Native Americans have the highest death rate due to Cystic Fibrosis (CF) compared to any other race/ethnic back grounds...
  34. CFTR Biogenesis and Function in Epithelia
    Zsuzsa Bebok; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel expressed on the apical surface of epithelial cells and is defective in cystic fibrosis (CF)...
  35. Transcriptional Networks Regulating Luminal Environment in the Epididymis
    Ann Harris; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Functional inactivation (by mutation) of the cystic fibrosis transmembrane conductance regulator (CFTR), a small conductance, cAMP activated chloride ion channel, leads to developmental defects that ..
  36. 2011 Mechanisms of Membrane Transport Gordon Research Conference
    Nancy Carrasco; Fiscal Year: 2011
    ..lead to better understanding of normal function, of diseases like hypertension, malabsorption syndromes, and cystic fibrosis, and to development of new and improved therapeutic agents...
  37. Pathological Evaluation of a Cystic Fibrosis Ferret Model
    John F Engelhardt; Fiscal Year: 2010
    ..b>Cystic Fibrosis (CF) is the most common autosomal recessive disease in Caucasians and is caused by defects in the CFTR ..
  38. SPLICING OF MRNA PRECURSORS
    Michael R Green; Fiscal Year: 2013
    ..of the splicing machineryghas been shown to result in a variety of human diseases including atypical cystic fibrosis, retinitis pigmentosa, spinal muscular atrophy and facioscapulohumeral muscular dystrophy, and has also been ..
  39. Polymicrobial interactions in the lung.
    JENNIFER MELINDA BOMBERGER; Fiscal Year: 2010
    ..COPD), community acquired pneumonia (CAP), ventilator-associated pneumonia (VAP), non-CF bronchiectasis and cystic fibrosis (CF). Recent studies suggest that viral and P...
  40. Identification of Inhibitors that Stabilize ER Degradation Substrates
    Domenico Tortorella; Fiscal Year: 2012
    ..g. emphysema and cystic fibrosis), blood disorders (e.g. protein C deficiency), and neurological disorders (e.g...
  41. Early Pathogenesis of Cystic Fibrosis Related Diabetes
    Andrew W Norris; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cystic Fibrosis (CF) is the most common lethal genetic disorder in Caucasian populations and is caused by defects in the cystic fibrosis conductance regulator (CFTR) chloride channel...
  42. Retroviral Subversion of ERAD and Intrinsic Immunity
    JAQUELIN PAGE DUDLEY; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Alzheimer's, cystic fibrosis, infectious diseases, and cancer all have a common feature: failure to efficiently destroy incorrectly folded or assembled proteins...
  43. Selectivity and Permeation in the Human Voltage-gated Proton Channel, hHv1
    Susan M E Smith; Fiscal Year: 2013
    ..mucosa, sperm, and B cells that implicate it in male fertility, allergic responses, and such diseases as cystic fibrosis, asthma, and lupus...
  44. Developmental Physiology of Ciliated Epithelia
    CHRISTOPHER ROBERT KINTNER; Fiscal Year: 2012
    ..loss of ciliary flow in the respiratory tract is a contributing factor to morbidity in chronic asthma, cystic fibrosis, and chronic obstructive pulmonary disease...
  45. Mechanisms of Pseudomonas Resistance to Membrane Permeabilization by SP-A
    Gee W Lau; Fiscal Year: 2012
    ..aeruginosa is one of the most common causes of nosocomial infections in humans, lung infections in cystic fibrosis patients, and a primary cause of death and sepsis in immuno-compromised individuals...
  46. GABA chaperoning of epilepsy-associated GABAA receptor mutants.
    Nancy J Leidenheimer; Fiscal Year: 2012
    ..of disease mutants show promise for rescue by pharmacological chaperones, including those associated with cystic fibrosis, retinitis pigmentosa, long QT syndrome and Fabry's disease (Bernier et al., 2004)...
  47. 5500 Q-Trap Mass Spectrometer
    Stephen Barnes; Fiscal Year: 2010
    ..The large number of MRM channels also allows the study of heavily modified proteins such as the cystic fibrosis transmembrane regulator (we have observed over 60 post- translational modifications) and lens crystallins...
  48. A New Pathway for Neutrophil-induced Airway Inflammation
    J Edwin Blalock; Fiscal Year: 2013
    ..a role as an initiator or cofactor for chronic lung diseases such as obstructive pulmonary disease (COPD), cystic fibrosis (CF), and chronic lung transplant rejection...
  49. Development of Inhaled Vancomycin for Treatment of MRSA Infections in CF
    Taneli Jouhikainen; Fiscal Year: 2012
    ..AEROVANC) for the treatment of methicillin-resistant Staphylococcus aureus (MRSA) infection, initially in cystic fibrosis (CF) patients and subsequently in other high risk patient populations...
  50. Molecular mechanisms of pathogen recognition by the Nod-like receptor NLRC4
    Fayyaz S Sutterwala; Fiscal Year: 2012
    ..In addition, P. aeruginosa chronically infects cystic fibrosis patients and causes significant morbidity and mortality in this population...
  51. NAPS2 Continuation Genome Wide Association Study of Pancreatitis
    DAVID CLEMENT WHITCOMB; Fiscal Year: 2011
    ..We also discovered a new class of cystic fibrosis transmembrane conductance regulator (CFTR) variants that alter bicarbonate but not chloride conductance, such ..
  52. Mitochondrial chaperones mortalin and Tid1 in protein degradation
    Carolyn K Suzuki; Fiscal Year: 2012
    ..are associated with aging, as well as a variety of human diseases, including Parkinson's disease, cystic fibrosis, amyotrophic lateral sclerosis (ALS), short chain acyl-CoA dehydrogenase (SCAD) deficiency and hypertrophic ..
  53. BIOLOGY OF SUBMUCOSAL GLAND STEM CELLS IN THE AIRWAY
    John F Engelhardt; Fiscal Year: 2013
    ..In diseases such as cystic fibrosis (CF), asthma, and chronic bronchitis, Submucosal glands expand in mass (hypertrophy) and/or abundance (..
  54. IL8-induced Post-transcriptional Regulation of the MUC5AC mucin gene
    Mary C Rose; Fiscal Year: 2010
    ..contributing to airway mucus obstruction and to disease morbidity and mortality in patients with asthma, cystic fibrosis, and chronic obstructive pulmonary diseases...
  55. Cell Based Therapies for Cystic Fibrosis
    Tracey L Bonfield; Fiscal Year: 2012
    ..b>Cystic fibrosis (CF) patients have mutations in the gene encoding the chloride transport protein CFTR which when defective in ..
  56. Transcriptional Control of Submucosal Gland Formation and Function
    Jeffrey A Whitsett; Fiscal Year: 2013
    ..mucociliary clearance, mucus production, and host defense accompany common chronic lung diseases, including cystic fibrosis (CF), chronic obstructive pulmonary disease, and asthma...
  57. Genome Sequencer FLX Instrument
    ANNE VIRGINIA KANE; Fiscal Year: 2010
    ..will characterize the intestinal microbiota in a wide range of study populations (children with pneumonia or cystic fibrosis or infected with Cryptosporidium, recipients of bone marrow transplants, patients colonized with antibiotic ..
  58. Pathogensis of Bacterial corneal infection
    Gerald B Pier; Fiscal Year: 2013
    ..bacteria infecting scratch-injured mouse eyes are found inside of cells, and entry requires binding to the cystic fibrosis transmembrane conductance regulator (CFTR)...
  59. Antiviral activity of leflunomide against respiratory syncytial virus
    WILLIAM WALDMAN; Fiscal Year: 2009
    ..disease in infants and young children, immunosuppressed organ transplant recipients, patients suffering from cystic fibrosis, congenital heart disease, and the elderly...
  60. TRAFFIC REGULATORY PROTEINS AND ENAC
    Raymond A Frizzell; Fiscal Year: 2013
    ..in ENaC function are implicated in significant human diseases, including hypertension, nephrosis, cystic fibrosis and pulmonary edema...
  61. Sodium Transport Inhibitors for Hypertension and Cystic Fibrosis
    Erik Schwiebert; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Sodium Transport Inhibitors for Hypertension and Cystic Fibrosis Scientific Summary Description Hypertension is a confounding multifactorial disorder that affects millions of patients worldwide...
  62. Computational and Cell Culture Models for Mucus Clearance
    Richard Superfine; Fiscal Year: 2010
    ..combining a team of researchers from Applied Mathematics, Physics, Biochemistry and Biophysics, and the UNC Cystic Fibrosis Center, the goal of this project is to develop cell-based biophysical assays that can test environmental ..
  63. HCO3- Conductive function of CFTR: Implications to Oral Health & Cystic Fibrosis
    MADIREDDI REDDY; Fiscal Year: 2010
    ..Loss of HCO3- transport is responsible for many pathological changes in Cystic Fibrosis (CF) including: abnormal mucous secretion in the intestine and airways (63, 65, 107), destruction of pancreas ..
  64. GATING OF THE CFTR CL CHANNEL BY ATP HYDROLYSIS
    Tzyh Chang Hwang; Fiscal Year: 1999
    The goal of this project is to understand how hydrolysis of ATP is coupled to the gating of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) Cl channel in isolated guinea pig ventricular myocytes and in various cell lines ..
  65. Mechanistic Basis Underlying Protein Repair of CFTR Nonsense Mutations
    STEVEN MARK ROWE; Fiscal Year: 2010
    ..codons (PTCs) with aminoglycosides and other agents has the potential to treat an underlying cause of cystic fibrosis (CF) and other genetic diseases including Duchenne's muscular dystrophy, Hurler's syndrome, and ..
  66. Quercetin Treatment of Airway Inflammation
    MARC HERSHENSON; Fiscal Year: 2006
    Inflammatory airways diseases - asthma, chronic bronchitis and cystic fibrosis - remain important causes of morbidity and mortality in the U.S...
  67. Regional Cystic fibrosis DNA Mutation Analysis
    JANE P GETCHELL; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): The goal of this project is to improve the efficacy of screening for Cystic fibrosis (CF) within Region 2, the New York Mid-Atlantic Consortium (NYMAC) for Genetic and Newborn Screening Services, by ..
  68. GLUCONEOGENESIS & DE NOVO LIPOGENESIS IN CYSTIC FIBROSIS
    DANA HARDIN; Fiscal Year: 2000
    ..I., and will extend her fund of knowledge in tracer methodology. Patients with cystic fibrosis (CF) have a high incidence of abnormal glucose tolerance...
  69. Daily genistein injections stimulate intestinal secretion: How?
    Layla Al Nakkash; Fiscal Year: 2007
    ..applicant): Genistein, a naturally occurring phytoestrogen found in soy, is a known in vitro activator of the cystic fibrosis transmembrane conductance regulator chloride channel (CFTR)...
  70. Role of Burkholderia Cenocepacia Adhesin, AdhA, in Cystic Fibrosis Infections
    Joanna B Goldberg; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Cystic fibrosis (CF) is an autosomal recessive disease that affects approximately 1:2700 live births. In the United States there are about 30,000 individuals living with CF...
  71. Volume Regulatory Pathways in Cystic Fibrosis Mice
    Won Kyoo Cho; Fiscal Year: 2003
    b>Cystic fibrosis (CF) is the most common lethal inherited diseases in white population. As CF patients live longer, liver disease has become the second leading cause of death...
  72. CFFONE: A Cell Phone Support Program for Teens with Cystic Fibrosis
    Kevin Dawkins; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Generations of patients with cystic fibrosis (CF) have spent their childhoods fighting for breath and losing...
  73. CFFONE: A Cell Phone Support Program for Adolescents with Cystic Fibrosis
    KEVIN F DAWKINS; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Generations of patients with cystic fibrosis (CF) have spent their childhoods fighting for breath and losing...
  74. PHASE 2 & 3 TRIALS OF HIGH-DOSE ORAL N-ACETYLCYSTEINE IN CYSTIC FIBROSIS
    Carol Conrad; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): [unreadable] Cystic fibrosis is a genetic, orphan disease, affecting about 30,000 people in the United States...
  75. MEMBRANES AND ACTIVE TRANSPORT OF AMINO ACIDS
    GIOVANNA AMES; Fiscal Year: 2001
    The superfamily of translocators, traffic ATPases (or ABC proteins), the cystic fibrosis transmembrane conductance regulator (CFTR), the P- glycoprotein of multidrug resistance (MDR), and bacterial periplasmic permeases...
  76. Characterization of Pancreatic Disease in a Novel Porcine Cystic Fibrosis Model
    Aliye Uc; Fiscal Year: 2010
    ..is common and the injury progresses to pancreatic insufficiency (PI) in the majority of patients with cystic fibrosis (CF)...
  77. Rescue of CFTR-deltaF508 misfolding by pharmacological and genetic suppressors
    RYAN TYLER; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Cystic fibrosis is a life-threatening genetic disease characterized by the altered secretion of electrolytes by the secretory epithelial cells of the body...
  78. A NEW CHLORIDE SWEAT TEST FOR CYSTIC FIBROSIS SCREENING
    WARREN WARWICK; Fiscal Year: 2004
    The CF Quantum(r) sweat test system is a rapid, easily administered, cost effective method to diagnose cystic fibrosis (CF)...
  79. Sodium Transport Inhibitors for Hypertension and Cystic Fibrosis
    John H Streiff; Fiscal Year: 2010
    ..b>Cystic fibrosis (CF) is an inherited disease of the pulmonary and gastrointestinal systems that presents in pediatric and ..