John P Clancy
Affiliation: University of Alabama at Birmingham
- Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosisJ P Clancy
Department of Pediatrics, University of Alabama at Birmingham, USA
Am J Respir Crit Care Med 163:1683-92. 2001..Together, these results suggest that gentamicin treatment can suppress premature stop mutations in airway cells from patients with CF, and produce small increases in CFTR Cl(-) conductance (as measured by the nasal PD) in vivo...
- Restoration of W1282X CFTR activity by enhanced expressionSteven M Rowe
Department of Medicine, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294 0006, USA
Am J Respir Cell Mol Biol 37:347-56. 2007..These findings provide evidence that W1282X CFTR exhibits membrane localization and retained chloride channel function after enhanced expression, and suggest that patients harboring this mutation may be more susceptible to CFTR rescue...
- Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trialRichard B Moss
Department of Pediatrics, Stanford University, Stanford, CA 94305, and Division of Respiratory Diseases, Children s Hospital Boston, MA 02115, USA
Hum Gene Ther 18:726-32. 2007..Because gene transfer is the simplest, most basic way to correct the underlying genetic defect that leads to disease in CF, further research is warranted to develop an effective gene transfer agent for the treatment of CF...
- No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutationsJohn P Clancy
Department of Pediatrics, University of Alabama at Birmingham, 1600 7th Avenue South, Birmingham, AL 35233, USA
Am J Respir Cell Mol Biol 37:57-66. 2007..The study provides valuable information on parameters of the nasal potential difference measurements for use in future multicenter clinical trials...
- Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trialsSteven M Rowe
Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294 0006, USA
Proc Am Thorac Soc 4:387-98. 2007..Recommendations are presented to advance our understanding of these biomarkers and to improve their capacity to predict cystic fibrosis outcomes...
- Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in developmentSteven M Rowe
Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35233, USA
BioDrugs 23:165-74. 2009..These results, coupled with our improved understanding of how translation termination is regulated at PTCs, will help guide future directions of research involving this innovative treatment strategy for genetic diseases...
- Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: a review of the evidenceKavitha Kotha
Division of Pulmonary Medicine, Department of Pediatrics, Cincinnati Children s Hospital Medical Center and the University of Cincinnati, Cincinnati, OH, USA
Ther Adv Respir Dis 7:288-96. 2013....
- Reduced sodium transport with nasal administration of the prostasin inhibitor camostat in subjects with cystic fibrosisSteven M Rowe
Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294 0006, USA
Chest 144:200-7. 2013..Its direct inhibition by camostat represents a potential approach to inhibiting sodium transport in cystic fibrosis (CF)...
- Progress in cystic fibrosis and the CF Therapeutics Development NetworkSteven M Rowe
Department of Medicine, University of Alabama at Birmingham, 1819 University Boulevard MCLM 768, Birmingham, AL 35294, USA
Thorax 67:882-90. 2012..Efforts to advance CF biomarkers, necessary to accelerate the therapeutic goals of the network, are also summarised...
- Mutations in the amino terminus of the cystic fibrosis transmembrane conductance regulator enhance endocytosisAsta Jurkuvenaite
Department of Cell Biology, University of Alabama at Birmingham, AL 35294, USA
J Biol Chem 281:3329-34. 2006..These two additive effects contribute to the loss of surface expression and the associated defect in chloride conductance that is consistent with a disease phenotype...
- Advances in cystic fibrosis therapiesSteven M Rowe
Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA
Curr Opin Pediatr 18:604-13. 2006..This review describes recent developments in cystic fibrosis pulmonary therapies intended to treat various facets of the disease, including several treatments currently in development...
- Nucleosides accelerate inflammatory osteolysis, acting as distinct innate immune activatorsGeorge Pan
Department of Pediatrics, Emory University, Atlanta, GA 30322, USA
J Bone Miner Res 26:1913-25. 2011..These observations provide new insight into the pathogenesis and underlying mechanism of bone destruction in inflammatory autoimmune osteoarthritis...
- Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: a multicenter, double-blind, placebo-controlled trialRichard B Moss
Department of Pediatrics, Stanford University, Stanford, CA, USA
Chest 125:509-21. 2004....
- Adenosine receptors and phosphodiesterase inhibitors stimulate Cl- secretion in Calu-3 cellsBryan R Cobb
Department of Human Genetics, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, 35233, USA
Am J Respir Cell Mol Biol 29:410-8. 2003..These studies also indicate that PDEis have the capacity to augment an endogenous CFTR-activating pathway in an "in vivo"-like model system, and supports future investigations of these agents relevant to cystic fibrosis...
- Extracorporeal membrane oxygenation causes loss of intestinal epithelial barrier in the newborn pigletAshish R Kurundkar
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA
Pediatr Res 68:128-33. 2010..On the basis of these data, we conclude that ECMO is an independent cause of gut barrier dysfunction and bacterial translocation may be an important contributor to ECMO-related inflammation...
- Up-regulation of AMP-activated kinase by dysfunctional cystic fibrosis transmembrane conductance regulator in cystic fibrosis airway epithelial cells mitigates excessive inflammationKenneth R Hallows
Department of Medicine, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
J Biol Chem 281:4231-41. 2006..We propose that therapies to activate AMPK in the CF airway may be beneficial in reducing excessive airway inflammation, a major cause of CF morbidity...
- A macromolecular complex of beta 2 adrenergic receptor, CFTR, and ezrin/radixin/moesin-binding phosphoprotein 50 is regulated by PKAAnjaparavanda P Naren
Department of Physiology and Biophysics, Medical Center, University of Tennessee Health Science Center, Memphis 38163, USA
Proc Natl Acad Sci U S A 100:342-6. 2003..Deleting the regulatory domain of CFTR abolishes PKA regulation of complex assembly. This report summarizes a macromolecular signaling complex involving CFTR, the implications of which may be relevant to CFTR-dysfunction diseases...
- Assessment of CFTR localisation in native airway epithelial cells obtained by nasal brushingCeinwen M Harris
Department of Medical Biochemistry and Immunology, University of Wales College of Medicine, Heath Park, Cardiff, Wales CF14 4XN, UK
J Cyst Fibros 3:43-8. 2004..The protocols are a consensus, following comparison of some aspects of methods currently used in the authors' laboratories...
- Activation of chloride secretion in cystic fibrosis cells and tissues by the substituted imidazole SRI 2931Julie R Jones
Vanderbilt University Medical Center, Department of Molecular Physiology and Biophysics, Nashville, Tennessee, USA
Biochemistry 42:13241-9. 2003..The magnitude, longevity, and mechanism of action of the response provide a tool for dissecting pathways of epithelial ATP extracellular signaling and Cl(-) permeability...
- The Caregiver Quality of Life Cystic Fibrosis (CQOLCF) scale: modification and validation of an instrument to measure quality of life in cystic fibrosis family caregiversWhitney Boling
Department of Health and Human Performance, University of Houston, TX 77204 6015, USA
Qual Life Res 12:1119-26. 2003..Qual Life Res 2000; 8: 55-63) as the Caregiver Quality of Life Cystic Fibrosis (CQOLCF) scale, validate it with cystic fibrosis (CF) family caregivers, and assess caregiver quality of life QOL with patient disease severity...