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 …
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 …
Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility
Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …
of the flagella (MMAF), a severe form of asthenoteratozoospermia, are characterized by …
Current and future treatments in primary ciliary dyskinesia
T Paff, H Omran, KG Nielsen, EG Haarman - International journal of …, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance
is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation …
is disturbed by the abnormal motion of cilia or there is a severe reduction in the generation …
Axoneme structure from motile cilia
T Ishikawa - Cold Spring Harbor perspectives in biology, 2017 - cshperspectives.cshlp.org
The axoneme is the main extracellular part of cilia and flagella in eukaryotes. It consists of a
microtubule cytoskeleton, which normally comprises nine doublets. In motile cilia, dynein …
microtubule cytoskeleton, which normally comprises nine doublets. In motile cilia, dynein …
Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia
M Whitfield, L Thomas, E Bequignon, A Schmitt… - The American Journal of …, 2019 - cell.com
Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their
structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a …
structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a …
Diagnosis of primary ciliary dyskinesia
M Goutaki, A Shoemark - Clinics in chest medicine, 2022 - chestmed.theclinics.com
Primary ciliary dyskinesia (PCD) is a rare multiorgan disease caused by genetic mutations
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …
[HTML][HTML] A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
Asthenozoospermia is a common cause of male infertility, but its etiology remains
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …