Michael R Knowles

Summary

Affiliation: University of North Carolina
Country: USA

Publications

  1. pmc Primary Ciliary Dyskinesia
    Michael R Knowles
    Department of Medicine, Marsico Lung Institute UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA Electronic address
    Clin Chest Med 37:449-61. 2016
  2. 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
  3. pmc Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA Electronic address
    Am J Hum Genet 93:711-20. 2013
  4. 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
  5. pmc Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
    M Leigh Anne Daniels
    Department of Medicine, UNC School of Medicine, Chapel Hill, North Carolina
    Hum Mutat 34:1352-6. 2013
  6. 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
  7. 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
  8. 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
  9. 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
  10. pmc Novel variation at chr11p13 associated with cystic fibrosis lung disease severity
    Hong Dang
    Marsico Lung Institute, CF Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
    Hum Genome Var 3:16020. 2016

Detail Information

Publications26

  1. pmc Primary Ciliary Dyskinesia
    Michael R Knowles
    Department of Medicine, Marsico Lung Institute UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA Electronic address
    Clin Chest Med 37:449-61. 2016
    ..There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood...
  2. 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...
  3. pmc Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
    Michael R Knowles
    Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA Electronic address
    Am J Hum Genet 93:711-20. 2013
    ..Together, these results demonstrate that mutations in SPAG1 cause PCD with ciliary ODA+IDA defects and that exome sequencing is useful to identify genetic causes of heterogeneous recessive disorders. ..
  4. 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. ..
  5. pmc Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia
    M Leigh Anne Daniels
    Department of Medicine, UNC School of Medicine, Chapel Hill, North Carolina
    Hum Mutat 34:1352-6. 2013
    ..921+3_6delAAGT splice-site mutation in RSPH4A were Hispanic with ancestry tracing to Puerto Rico. This mutation is a founder mutation and a common cause of PCD without situs abnormalities in patients of Puerto Rican descent. ..
  6. 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
    ....
  7. 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...
  8. 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...
  9. 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...
  10. pmc Novel variation at chr11p13 associated with cystic fibrosis lung disease severity
    Hong Dang
    Marsico Lung Institute, CF Pulmonary Research and Treatment Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA
    Hum Genome Var 3:16020. 2016
    ..Highly significant associations were in strong linkage disequilibrium and were seen only in Phe508del homozygous CF subjects, indicating a CFTR genotype-specific mechanism. ..
  11. 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
    ....
  12. 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...
  13. 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...
  14. 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...
  15. 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
    ....
  16. 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...
  17. 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...
  18. 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. ..
  19. pmc Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis
    Jaclyn R Stonebraker
    Marsico Lung Institute Cystic Fibrosis Research Center, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina Electronic address
    Clin Gastroenterol Hepatol 14:1207-1215.e3. 2016
    ..Liver disease is the third leading cause of death in patients with cystic fibrosis (CF), but features of patients with CF, severe liver disease, and portal hypertension have not been characterized fully...
  20. 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), ╬╝m, respectively. In contrast, the same measures for three different PCD waveforms had values far outside this range...
  21. 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...
  22. pmc Quantification of population structure using correlated SNPs by shrinkage principal components
    Fei Zou
    Department of Biostatistics, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA fzou bios unc edu
    Hum Hered 70:9-22. 2010
    ..It implicitly assumes that the markers are in linkage equilibrium, a condition that is rarely satisfied and that we plan to relax...
  23. 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
    ....
  24. 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...
  25. 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...
  26. 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...