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 …

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 …

Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility

C Liu, H Miyata, Y Gao, Y Sha, S Tang, Z Xu… - The American Journal of …, 2020 - cell.com
Sperm malformation is a direct factor for male infertility. Multiple morphological abnormalities
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 …

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 …

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 …

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 …

[HTML][HTML] A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

B Zhang, H Ma, T Khan, A Ma, T Li, H Zhang… - Journal of Experimental …, 2020 - rupress.org
Asthenozoospermia is a common cause of male infertility, but its etiology remains
incompletely understood. We recruited three Pakistani infertile brothers, born to first-cousin …