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) …

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 …

Primary ciliary dyskinesia in the genomics age

JS Lucas, SD Davis, H Omran… - The Lancet Respiratory …, 2020 - thelancet.com
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
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 …

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

A Sironen, A Shoemark, M Patel, MR Loebinger… - Cellular and Molecular …, 2020 - Springer
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 …

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 …

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 …

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 …

[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 …

Major regulatory mechanisms involved in sperm motility

R Pereira, R Sá, A Barros, M Sousa - Asian Journal of Andrology, 2017 - journals.lww.com
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 …