Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Thomas W Ferkol"'
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 15, p 8272 (2021)
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revea
Externí odkaz:
https://doaj.org/article/2e8adc264e2a4ce389e972ce6d86222b
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
Autor:
Amjad Horani, Steven L Brody, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Asaf Ta-shma, Kate S Wilson, Philip V Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Orly Elpeleg, Eitan Kerem
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e72299 (2013)
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of PCD are still evolving, while the diagnosis is often dependent on finding a ciliary ult
Externí odkaz:
https://doaj.org/article/7fdb448575d6472db50f26d20a7fe4a0
Autor:
Amjad Horani, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Yifat S Oren, Batsheva Kerem, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Steven L Brody, Orly Elpeleg, Eitan Kerem
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59436 (2013)
Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinica
Externí odkaz:
https://doaj.org/article/30c757d765204d78b98ccfadea311c95
Publikováno v:
Cells, Vol 13, Iss 11, p 974 (2024)
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy, characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract infections, subfertility, and laterality defects. Diagnosis relies o
Externí odkaz:
https://doaj.org/article/bc5236c1dd8744cfb2385882a9fed055
Autor:
Renate Kos, Myrofora Goutaki, Helene E. Kobbernagel, Bruna Rubbo, Amelia Shoemark, Stefano Aliberti, Josje Altenburg, Pinelopi Anagnostopoulou, Rodrigo A. Athanazio, Nicole Beydon, Sharon D. Dell, Nagehan Emiralioglu, Thomas W. Ferkol, Michael R. Loebinger, Natalie Lorent, Bernard Maître, June Marthin, Lucy C. Morgan, Kim G. Nielsen, Felix C. Ringshausen, Michal Shteinberg, Harm A.W.M. Tiddens, Anke H. Maitland-Van der Zee, James D. Chalmers, Jane S.A. Lucas, Eric G. Haarman
Publikováno v:
ERJ Open Research, Vol 10, Iss 1 (2024)
Background Consistent use of reliable and clinically appropriate outcome measures is a priority for clinical trials, with clear definitions to allow comparability. We aimed to develop a core outcome set (COS) for pulmonary disease interventions in pr
Externí odkaz:
https://doaj.org/article/206a1713eedc40ba92a771037176fcd8
Autor:
Wallace B. Wee, Margaret W. Leigh, Stephanie D. Davis, Margaret Rosenfeld, Kelli M. Sullivan, Michael G. Sawras, Thomas W. Ferkol, Michael R. Knowles, Carlos Milla, Scott D. Sagel, Maimoona A. Zariwala, Eleanor Pullenayegum, Sharon D. Dell
Publikováno v:
Annals of the American Thoracic Society. 19(11)
Autor:
BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline Onchiri, Thomas W. Ferkol, Scott D. Sagel, Sharon D. Dell, Carlos Milla, Adam J. Shapiro, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Federico Mollica, Harm A. W. M. Tiddens, Mariette Kemner-van de Corput, Michael R. Knowles, Stephanie D. Davis, Margaret W. Leigh
Publikováno v:
Annals of the American Thoracic Society. 20:539-547
Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, and progressive airway damage and obstructive lung disease. While the association of ciliary ultrastructure defect/genotype with se
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype
Autor:
Andrew T. Barber, Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, Jeffrey J. Atkinson, Scott D. Sagel, Sharon D. Dell, Kenneth N. Olivier, Carlos E. Milla, Margaret Rosenfeld, Lang Li, Feng-Chang Lin, Kelli M. Sullivan, Nicole A. Capps, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh
Publikováno v:
Annals of the American Thoracic Society. 20:397-405
The association between organ laterality abnormalities and ciliary ultrastructural defect or genotype in primary ciliary dyskinesia is poorly understood.To determine if there is an association between presence/type of laterality abnormality and cilia
Autor:
Scott D. Sagel, Oren Kupfer, Brandie D. Wagner, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Jordana E. Hoppe, Margaret Rosenfeld, Kelli M. Sullivan, Harm A. W. M. Tiddens, Michael R. Knowles, Margaret W. Leigh
Publikováno v:
Annals of the American Thoracic Society. 20:67-74
Autor:
Don B. Sanders, Ashley R. Deschamp, Joseph E. Hatch, James E. Slaven, Netsanet Gebregziabher, Mariette Kemner-van de Corput, Harm A.W.M. Tiddens, Tim Rosenow, Gregory A. Storch, Graham L. Hall, Stephen M. Stick, Sarath Ranganathan, Thomas W. Ferkol, Stephanie D. Davis
Publikováno v:
Journal of Cystic Fibrosis, 21(6), 1020-1026. Elsevier
Background: Infants with cystic fibrosis (CF) develop structural lung disease early in life, and viral infections are associated with progressive lung disease. We hypothesized that the presence of respiratory viruses would be associated with structur