Michael R Knowles

Summary

Affiliation: University of North Carolina
Country: USA

Publications

  1. pmc The influence of genetics on cystic fibrosis phenotypes
    Michael R Knowles
    Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA
    Cold Spring Harb Perspect Med 2:a009548. 2012
  2. pmc Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    Michael R Knowles
    University of North Carolina, Cystic Fibrosis Pulmonary Research and Treatment Center, School of Medicine, CB 7248, 7123 Thurston Bowles Bldg, Chapel Hill, NC 27599 7248, USA
    Thorax 67:433-41. 2012
  3. pmc ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
    Maimoona A Zariwala
    Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    Am J Hum Genet 93:336-45. 2013
  4. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
    Am J Hum Genet 92:99-106. 2013
  5. pmc Primary ciliary dyskinesia: improving the diagnostic approach
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7220, USA
    Curr Opin Pediatr 21:320-5. 2009
  6. ncbi request reprint Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
    Marcus P Kennedy
    University of North Carolina, Chapel Hill, NC, USA
    Circulation 115:2814-21. 2007
  7. ncbi request reprint High-resolution CT of patients with primary ciliary dyskinesia
    Marcus P Kennedy
    Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC, USA
    AJR Am J Roentgenol 188:1232-8. 2007
  8. ncbi request reprint Genetic causes of bronchiectasis: primary ciliary dyskinesia
    Hilda N Morillas
    CF Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599 7248, USA
    Respiration 74:252-63. 2007
  9. pmc Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
    Genet Med 11:473-87. 2009
  10. pmc The challenges of diagnosing primary ciliary dyskinesia
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27516, USA
    Proc Am Thorac Soc 8:434-7. 2011

Collaborators

Detail Information

Publications20

  1. pmc The influence of genetics on cystic fibrosis phenotypes
    Michael R Knowles
    Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA
    Cold Spring Harb Perspect Med 2:a009548. 2012
    ..These unforeseen associations thus provide novel insight into disease pathophysiology, as well as suggesting new therapeutic strategies for CF...
  2. pmc Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    Michael R Knowles
    University of North Carolina, Cystic Fibrosis Pulmonary Research and Treatment Center, School of Medicine, CB 7248, 7123 Thurston Bowles Bldg, Chapel Hill, NC 27599 7248, USA
    Thorax 67:433-41. 2012
    ....
  3. pmc ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
    Maimoona A Zariwala
    Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    Am J Hum Genet 93:336-45. 2013
    ..Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function. ..
  4. pmc Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
    Am J Hum Genet 92:99-106. 2013
    ..These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders...
  5. pmc Primary ciliary dyskinesia: improving the diagnostic approach
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC 27599 7220, USA
    Curr Opin Pediatr 21:320-5. 2009
    ..This review outlines the potential utility of new diagnostic tests, including measurement of nasal nitric oxide production and systematic analysis for mutations in genes encoding ciliary proteins...
  6. ncbi request reprint Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
    Marcus P Kennedy
    University of North Carolina, Chapel Hill, NC, USA
    Circulation 115:2814-21. 2007
    ..Advances in diagnosis of PCD, such as genetic testing, allow the systematic investigation of this association...
  7. ncbi request reprint High-resolution CT of patients with primary ciliary dyskinesia
    Marcus P Kennedy
    Division of Pulmonary and Critical Care Medicine, University of North Carolina, Chapel Hill, NC, USA
    AJR Am J Roentgenol 188:1232-8. 2007
    ..We analyzed all high-resolution CT studies of the chest available for a cohort of PCD patients to identify an associated pattern of high-resolution CT changes...
  8. ncbi request reprint Genetic causes of bronchiectasis: primary ciliary dyskinesia
    Hilda N Morillas
    CF Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC 27599 7248, USA
    Respiration 74:252-63. 2007
    ....
  9. pmc Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
    Genet Med 11:473-87. 2009
    ....
  10. pmc The challenges of diagnosing primary ciliary dyskinesia
    Margaret W Leigh
    Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27516, USA
    Proc Am Thorac Soc 8:434-7. 2011
    ..Another chapter in this issue (see Zariwala and colleagues, pp. 430) addresses the progress toward improved capabilities for definitive genetic testing...
  11. pmc Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC
    Xueliang Guo
    Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
    PLoS ONE 6:e25452. 2011
    ..4 kb VNTR allele and severity of CF lung disease. The LD pattern with surrounding SNPs suggests that the 6.4 kb allele contains, or is linked to, important functional genetic variation...
  12. pmc Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC
    Xueliang Guo
    Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    J Cyst Fibros 13:613-6. 2014
    ..The length of variants in mucin central repetitive regions has not been explored as "risk" factors for MI in CF...
  13. pmc Human airway ciliary dynamics
    Patrick R Sears
    Cystic Fibrosis Center, University of North Carolina, 6026 Thurston Bowles Bldg, CB7248, Chapel Hill, NC 27599, USA
    Am J Physiol Lung Cell Mol Physiol 304:L170-83. 2013
    ..31(0.04), 0.25(0.06), 0.50(0.12), 0.50(0.10), μm, respectively. In contrast, the same measures for three different PCD waveforms had values far outside this range...
  14. pmc Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes
    WANDA K O'NEAL
    Marsico Lung Institute UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA Electronic address
    Am J Hum Genet 96:318-28. 2015
    ..Gene expression provided a powerful tool to identify unrecognized heritable variation, complementing ongoing GWASs in this rare disease. ..
  15. 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
    ..2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder...
  16. ncbi request reprint Gene modifiers of lung disease
    Michael R Knowles
    Cystic Fibrosis Pulmonary Research and Treatment Center, 7011 Thurston Bowles Bldg, CB 7248, University of North Carolina, Chapel Hill, NC 27599 7248, USA
    Curr Opin Pulm Med 12:416-21. 2006
    ..Early studies were small and/or phenotyping methodologies were limited; consequently, most findings have not been replicated...
  17. pmc Genetic modifiers of liver disease in cystic fibrosis
    Jaclyn R Bartlett
    Cystic Fibrosis Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
    JAMA 302:1076-83. 2009
    ..A subset (approximately 3%-5%) of patients with cystic fibrosis (CF) develops severe liver disease with portal hypertension...
  18. ncbi request reprint 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...
  19. ncbi request reprint Calcium stone lithoptysis in primary ciliary dyskinesia
    Marcus P Kennedy
    UNC Chapel Hill, Division of Pulmonary and Critical Care Medicine, Chapel Hill, NC 277599 7020, USA
    Respir Med 101:76-83. 2007
    ..An association between lithoptysis and primary ciliary dyskinesia (PCD) has not been previously reported. However, reports of lithoptysis from 2 older patients (>60 yr) prompted a study of this association...
  20. pmc SERCA pump inhibitors do not correct biosynthetic arrest of deltaF508 CFTR in cystic fibrosis
    Barbara R Grubb
    Cystic Fibrosis Pulmonary Research and Treatment Center, 7011 Thurston Bowles Bldg, CB 7248, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7248, USA
    Am J Respir Cell Mol Biol 34:355-63. 2006
    ....