Zobrazeno 1 - 10 of 194 pro vyhledávání: '"Margaret W Leigh"'
1
Akademický článek
Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection.
Autor: Jessica E Pittman, Hannah Noah, Hollin E Calloway, Stephanie D Davis, Margaret W Leigh, Mitchell Drumm, Scott D Sagel, Frank J Accurso, Michael R Knowles, Marci K Sontag
Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0177215 (2017)
Pseudomonas aeruginosa has been suggested as a major determinant of poor pulmonary outcomes in cystic fibrosis (CF), although other factors play a role. Our objective was to investigate the association of early childhood Pseudomonas infection on diff
Externí odkaz: https://doaj.org/article/0fb2327c92db43f1927139cc46740a49
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2
Akademický článek
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
Autor: Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari
Publikováno v: PLoS Genetics, Vol 12, Iss 7, p e1006220 (2016)
Ciliopathies are genetic disorders arising from dysfunction of microtubule-based cellular appendages called cilia. Different cilia types possess distinct stereotypic microtubule doublet arrangements with non-motile or 'primary' cilia having a 9+0 and
Externí odkaz: https://doaj.org/article/7c98f36db5424abc93f80eefd82caaec
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3
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d68c1905d6dec4efdcb1c5618c9514f
https://doi.org/10.1513/annalsats.202206-524oc
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4
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e98b324634872e405094b9acc2bedfe0
https://doi.org/10.1513/annalsats.202206-487oc
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8
Akademický článek
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype
Autor: Lawrence E. Ostrowski, Weining Yin, Amanda J. Smith, Patrick R. Sears, Ximena M. Bustamante-Marin, Hong Dang, Friedhelm Hildebrandt, Leigh Anne Daniels, Nicole A. Capps, Kelli M. Sullivan, Margaret W. Leigh, Maimoona A. Zariwala, Michael R. Knowles
Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 3, p 1753 (2022)
Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disea
Externí odkaz: https://doaj.org/article/4b3988c221d24482b992cdf7a4bd437e
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9
Akademický článek
Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients
Autor: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X‐linked disorder affecting ciliary function. In the set of causative genes, however, predominant pathogenic variants remain unknown in Asia. Method A
Externí odkaz: https://doaj.org/article/a8502e011c034d7aa76fe2a194379d0c
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10
Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia
Autor: Wallace B. Wee, Kimberley R. Kaspy, Michael G. Sawras, Michael R. Knowles, Maimoona A. Zariwala, Margaret W. Leigh, Sharon D. Dell, Adam J. Shapiro
Publikováno v: Pediatr Pulmonol
BACKGROUND: Organ laterality defects in primary ciliary dyskinesia (PCD) are common, ranging from complete mirror image organ arrangement, situs inversus totalis (SIT), to situs ambiguus (SA), which falls along the spectrum of situs solitus (SS) and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8e661e62acedc1b8497afce7211e8a
https://doi.org/10.1002/ppul.25853
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