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) …

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 …

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 …

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 …

Primary ciliary dyskinesia: a clinical review

KA Despotes, MA Zariwala, SD Davis, TW Ferkol - Cells, 2024 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy,
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …

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 …

[HTML][HTML] International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM …

A Shoemark, M Boon, C Brochhausen… - European …, 2020 - publications.ersnet.org
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North
American diagnostic guidelines recommend transmission electron microscopy (TEM) as one …

A DNAH17 missense variant causes flagella destabilization and asthenozoospermia

B Zhang, H Ma, T Khan, A Ma, T Li, H Zhang… - Journal of Experimental …, 2019 - 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 …

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

I Aprea, J Raidt, IM Höben, NT Loges… - PLoS …, 2021 - journals.plos.org
Axonemal protein complexes, such as outer (ODA) and inner (IDA) dynein arms, are
responsible for the generation and regulation of flagellar and ciliary beating. Studies in …