Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
S Blanchon, M Legendre, M Bottier… - Journal of medical …, 2020 - jmg.bmj.com
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal
ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We …
ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We …
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
X Zhao, C Bian, K Liu, W Xu, Y Liu, X Tian, J Bai… - Orphanet Journal of …, 2021 - Springer
Background Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic
disorder involving the impairment of motile cilia. With no single gold standard for PCD …
disorder involving the impairment of motile cilia. With no single gold standard for PCD …
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
I Mabrouk, N Al-Harthi, R Mani, G Montantin… - Journal of Human …, 2022 - nature.com
Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous ciliopathy.
Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms …
Dysfunction of motile respiratory and nodal cilia results in sinopulmonary symptoms …
Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan
N Keicho, M Hijikata, A Miyabayashi… - Respiratory …, 2024 - Elsevier
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired motile
cilia function, particularly in the upper and lower airways. To date, more than 50 causative …
cilia function, particularly in the upper and lower airways. To date, more than 50 causative …
Evaluation of a clinical index as a predictive tool for primary ciliary dyskinesia
V Martinů, L Bořek-Dohalská, Ž Varényiová, J Uhlík… - Diagnostics, 2021 - mdpi.com
Background: In primary ciliary dyskinesia (PCD) there is no single diagnostic test. Different
predictive tools have been proposed to guide referral of high-risk patients for further …
predictive tools have been proposed to guide referral of high-risk patients for further …
Intracellular Cl− Regulation of Ciliary Beating in Ciliated Human Nasal Epithelial Cells: Frequency and Distance of Ciliary Beating Observed by High-Speed Video …
M Yasuda, T Inui, S Hirano, S Asano, T Okazaki… - International Journal of …, 2020 - mdpi.com
Small inhaled particles, which are entrapped by the mucous layer that is maintained by
mucous secretion via mucin exocytosis and fluid secretion, are removed from the nasal …
mucous secretion via mucin exocytosis and fluid secretion, are removed from the nasal …
Primary Ciliary Dyskinesia: A Clinical Review
KA Despotes, MA Zariwala, SD Davis, TW Ferkol - Cells, 2024 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy,
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …
The controversies and difficulties of diagnosing primary ciliary dyskinesia
A Shoemark, B Rubbo, E Haarman… - American journal of …, 2020 - atsjournals.org
1. Bhatt SP, Patel SB, Anderson EM, Baugh D, Givens T, Schumann C, et al. Video
telehealth pulmonary rehabilitation intervention in COPD reduces 30-day readmissions. Am …
telehealth pulmonary rehabilitation intervention in COPD reduces 30-day readmissions. Am …
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by defects in motile cilia,
which play an important role in several organ systems. Lung disease is a hallmark of PCD …
which play an important role in several organ systems. Lung disease is a hallmark of PCD …
Quantifying cilia beat frequency using high‐speed video microscopy: Assessing frame rate requirements when imaging different ciliated tissues
Motile cilia are found in numerous locations throughout our body and play a critical role in
various physiological processes. The most commonly used method to assess cilia motility is …
various physiological processes. The most commonly used method to assess cilia motility is …