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 …

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

L Newman, J Chopra, C Dossett… - Human …, 2023 - academic.oup.com
BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic condition affecting the
structure and function of sperm flagellum and motile cilia including those in the male and …

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry

J Wallmeier, D Frank, A Shoemark… - The American Journal of …, 2019 - cell.com
Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …

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 …

Advances in the Genetics of Primary CiliaryáDyskinesia: Clinical Implications

A Horani, TW Ferkol - Chest, 2018 - Elsevier
Primary ciliary dyskinesia is a rare genetic disease of the motile cilia and is one of a rapidly
expanding collection of disorders known as ciliopathies. Patients with primary ciliary …

The role of genetics and oxidative stress in the etiology of male infertility—a unifying hypothesis?

RJ Aitken, MA Baker - Frontiers in Endocrinology, 2020 - frontiersin.org
Despite the high prevalence of male infertility, very little is known about its etiology. In recent
years however, advances in gene sequencing technology have enabled us to identify a …