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) …

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

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 …

[PDF][PDF] 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 …

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 …

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 …

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 …

[PDF][PDF] Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …

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 …