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 …
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 …
Motile and non‐motile cilia in human pathology: from function to phenotypes
HM Mitchison, EM Valente - The Journal of pathology, 2017 - Wiley Online Library
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
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 oto‐sino‐pulmonary disease in both children and adults. Many physicians …
in chronic oto‐sino‐pulmonary 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 …
Teratozoospermia: spotlight on the main genetic actors in the human
C Coutton, J Escoffier, G Martinez… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …
health concern. Although multifactorial, male infertility has a strong genetic basis which has …
[HTML][HTML] Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
MW Leigh, JE Pittman, JL Carson, TW Ferkol… - Genetics in …, 2009 - Elsevier
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy …
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy …
Major regulatory mechanisms involved in sperm motility
The genetic bases and molecular mechanisms involved in the assembly and function of the
flagellum components as well as in the regulation of the flagellar movement are not fully …
flagellum components as well as in the regulation of the flagellar movement are not fully …