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) …
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 …
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 …
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 …
Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies
V Mirra, C Werner, F Santamaria - Frontiers in pediatrics, 2017 - frontiersin.org
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
Emerging genotype-phenotype relationships in primary ciliary dyskinesia
SK Brennan, TW Ferkol, SD Davis - International journal of molecular …, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and
leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and …
leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and …
Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex
H Olbrich, C Cremers, NT Loges, C Werner… - The American Journal of …, 2015 - cell.com
Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial
infections by moving mucus and debris outward. Congenital disorders of ciliary beating …
infections by moving mucus and debris outward. Congenital disorders of ciliary beating …
Genetic underpinnings of asthenozoospermia
C Tu, W Wang, T Hu, G Lu, G Lin, YQ Tan - Best Practice & Research …, 2020 - Elsevier
Asthenozoospermia (AZS), defined by reduced motility or absent sperm motility, is one of the
main causes of male infertility. This condition may be divided into isolated AZS in the …
main causes of male infertility. This condition may be divided into isolated AZS in the …