The impact of primary ciliary dyskinesia on female and male fertility: a narrative review
L Newman, J Chopra, C Dossett… - Human …, 2023 - academic.oup.com
BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic condition affecting the
structure and function of sperm flagellum and motile cilia including those in the male and …
structure and function of sperm flagellum and motile cilia including those in the male and …
Genetics and epigenetics of chronic rhinosinusitis
Discerning the genetics and epigenetics of chronic rhinosinusitis (CRS) may optimize
outcomes through early diagnostics, personalized and novel therapeutics, and early …
outcomes through early diagnostics, personalized and novel therapeutics, and early …
Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard
N Beydon, P Kouis, JK Marthin, P Latzin… - European …, 2023 - Eur Respiratory Soc
Nasal nitric oxide (nNO) is extremely low in most people with primary ciliary dyskinesia
(PCD) and its measurement is an important contributor to making the diagnosis. Existing …
(PCD) and its measurement is an important contributor to making the diagnosis. Existing …
[HTML][HTML] The Cilialyzer–A freely available open-source software for the analysis of mucociliary activity in respiratory cells
M Schneiter, SA Tschanz, A Escher, L Müller… - Computer methods and …, 2023 - Elsevier
Abstract Background and Objective Primary ciliary dyskinesia (PCD) is a rare genetic
disorder causing a defective ciliary structure, which predominantly leads to an impaired …
disorder causing a defective ciliary structure, which predominantly leads to an impaired …
Primary ciliary dyskinesia
J Raidt, NT Loges, H Olbrich, J Wallmeier… - La Presse Médicale, 2023 - Elsevier
Background and objectives Primary ciliary dyskinesia (PCD, ORPHA: 244) is a group of rare
genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and …
genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and …
Primary Ciliary Dyskinesia
WB Wee, BA Kinghorn, SD Davis, TW Ferkol… - …, 2024 - publications.aap.org
Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional
motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary …
motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary …
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
DO Dodd, S Mechaussier, PL Yeyati, F McPhie… - Science, 2024 - science.org
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in
metazoans encoded by different conserved genes. Whether these distinct isotypes form cell …
metazoans encoded by different conserved genes. Whether these distinct isotypes form cell …
Defining and promoting pediatric pulmonary health: developing biomarkers for pulmonary health
Children with inherited and/or acquired respiratory disorders often arrive in adolescence
and adulthood with diminished lung function that might have been detected and prevented …
and adulthood with diminished lung function that might have been detected and prevented …
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database …
Y Xu, G Feng, T Yano, S Masuda, M Nagao… - Journal of Human …, 2023 - nature.com
Primary ciliary dyskinesia (PCD) is a hereditary disease caused by pathogenic variants in
genes associated with motile cilia. Some variants responsible for PCD are reported to be …
genes associated with motile cilia. Some variants responsible for PCD are reported to be …
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
J Hunter‐Schouela, MT Geraghty… - Pediatric …, 2023 - Wiley Online Library
Background Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease
characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis …
characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis …