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 …

Functional unknomics: Systematic screening of conserved genes of unknown function

JJ Rocha, SA Jayaram, TJ Stevens, N Muschalik… - PLoS …, 2023 - journals.plos.org
The human genome encodes approximately 20,000 proteins, many still uncharacterised. It
has become clear that scientific research tends to focus on well-studied proteins, leading to …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

[PDF][PDF] Phylogenomics reveals convergent evolution of lifestyles in close relatives of animals and fungi

G Torruella, A De Mendoza, X Grau-Bové, M Antó… - Current Biology, 2015 - cell.com
The Opisthokonta are a eukaryotic supergroup divided in two main lineages: animals and
related protistan taxa, and fungi and their allies [1, 2]. There is a great diversity of lifestyles …

[PDF][PDF] DNA methylation regulates alternative polyadenylation via CTCF and the cohesin complex

V Nanavaty, EW Abrash, C Hong, S Park, EE Fink, Z Li… - Molecular cell, 2020 - cell.com
Dysregulation of DNA methylation and mRNA alternative cleavage and polyadenylation
(APA) are both prevalent in cancer and have been studied as independent processes. We …

Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology

N Sone, S Konishi, K Igura, K Tamai, S Ikeo… - Science translational …, 2021 - science.org
Mucociliary clearance is an essential lung function that facilitates the removal of inhaled
pathogens and foreign matter unidirectionally from the airway tract and is innately achieved …

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 …

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

C Olcese, MP Patel, A Shoemark, S Kiviluoto… - Nature …, 2017 - nature.com
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory
mucociliary clearance, laterality determination and the transport of gametes and …

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

M Toriyama, C Lee, SP Taylor, I Duran, DH Cohn… - Nature …, 2016 - nature.com
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling.
Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or …