Motile ciliopathies
J Wallmeier, KG Nielsen, CE Kuehni… - Nature reviews Disease …, 2020 - nature.com
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
Cilia and mucociliary clearance
XM Bustamante-Marin… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Mucociliary clearance (MCC) is the primary innate defense mechanism of the lung. The
functional components are the protective mucous layer, the airway surface liquid layer, and …
functional components are the protective mucous layer, the airway surface liquid layer, and …
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline
AJ Shapiro, SD Davis, D Polineni… - American journal of …, 2018 - atsjournals.org
Background: This document presents the American Thoracic Society clinical practice
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …
Primary ciliary dyskinesia in the genomics age
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
Sperm defects in primary ciliary dyskinesia and related causes of male infertility
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
AJ Shapiro, MA Zariwala, T Ferkol… - Pediatric …, 2016 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic otosinopulmonary disease in both children and adults. Many physicians …
in chronic otosinopulmonary disease in both children and adults. Many physicians …
Motile cilia and airway disease
M Legendre, LE Zaragosi, HM Mitchison - Seminars in cell & …, 2021 - Elsevier
A finely regulated system of airway epithelial development governs the differentiation of
motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …
motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease
MR Knowles, LA Daniels, SD Davis… - American journal of …, 2013 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …
Formation and function of sperm tail structures in association with sperm motility defects
Male infertility is an increasing problem partly due to inherited genetic variations. Mutations
in genes involved in formation of the sperm tail cause motility defects and thus male …
in genes involved in formation of the sperm tail cause motility defects and thus male …