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Plos Genetics
|
August 9, 2020
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
Ximena M Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, et al.
American Journal of Human Genetics
|
January 23, 2019
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
Ximena M Bustamante-Marin, Wei-Ning Yin, Patrick R Sears, et al.
American Journal of Human Genetics
|
December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
Michael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.
Cells
|
September 26, 2025
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec
Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2024
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
M Makenzie Beaman, Weining Yin, Amanda J Smith, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 15, 2020
Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia
Kenichi Okuda, Hong Dang, Yoshihiko Kobayashi, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
Michael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 2, 2025
STAT3-dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome
Ling Sun, Samantha A Walls, Hong Dang, et al.
Biorxiv : the Preprint Server for Biology
|
August 30, 2024
Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations
Ling Sun, Samantha A Walls, Hong Dang, et al.
American Journal of Respiratory and Critical Care Medicine
|
April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.
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Search research articles
Search
Showing results (41-50 of 51) with videos related to
Sort By:
Page
of 6
Plos Genetics
|
August 9, 2020
Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
Ximena M Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, et al.
American Journal of Human Genetics
|
January 23, 2019
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
Ximena M Bustamante-Marin, Wei-Ning Yin, Patrick R Sears, et al.
American Journal of Human Genetics
|
December 25, 2012
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia
Michael R Knowles, Margaret W Leigh, Lawrence E Ostrowski, et al.
Cells
|
September 26, 2025
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec
Marie-Hélène Bourassa, Guillaume Sillon, Shuizi Ding, et al.
American Journal of Medical Genetics. Part A
|
October 4, 2024
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
M Makenzie Beaman, Weining Yin, Amanda J Smith, et al.
American Journal of Respiratory and Critical Care Medicine
|
December 15, 2020
Secretory Cells Dominate Airway CFTR Expression and Function in Human Airway Superficial Epithelia
Kenichi Okuda, Hong Dang, Yoshihiko Kobayashi, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype
Michael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.
American Journal of Respiratory and Critical Care Medicine
|
May 2, 2025
STAT3-dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome
Ling Sun, Samantha A Walls, Hong Dang, et al.
Biorxiv : the Preprint Server for Biology
|
August 30, 2024
Dysregulated Airway Host Defense in Hyper IgE Syndrome due to STAT3 Mutations
Ling Sun, Samantha A Walls, Hong Dang, et al.
American Journal of Respiratory and Critical Care Medicine
|
April 16, 2024
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, et al.
Page
of 6