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 …

[HTML][HTML] 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 …

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] 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 …

[HTML][HTML] Primary ciliary dyskinesia

MA Zariwala, MR Knowles, MW Leigh - 2019 - europepmc.org
Primary Ciliary Dyskinesia - Abstract - Europe PMC Sign in | Create an account https://orcid.org
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Haploid male germ cells—the Grand Central Station of protein transport

C Pleuger, MS Lehti, JEM Dunleavy… - Human …, 2020 - academic.oup.com
BACKGROUND The precise movement of proteins and vesicles is an essential ability for all
eukaryotic cells. Nowhere is this more evident than during the remarkable transformation …

Genetic underpinnings of asthenozoospermia

C Tu, W Wang, T Hu, G Lu, G Lin, YQ Tan - Best Practice & Research …, 2020 - Elsevier
Asthenozoospermia (AZS), defined by reduced motility or absent sperm motility, is one of the
main causes of male infertility. This condition may be divided into isolated AZS in the …

[PDF][PDF] Lack of GAS2L2 causes PCD by impairing cilia orientation and mucociliary clearance

XM Bustamante-Marin, WN Yin, PR Sears… - The American Journal of …, 2019 - cell.com
Primary ciliary dyskinesia (PCD) is a genetic disorder in which impaired ciliary function
leads to chronic airway disease. Exome sequencing of a PCD subject identified an apparent …

[HTML][HTML] The role of Hsp90-R2TP in macromolecular complex assembly and stabilization

J Lynham, WA Houry - Biomolecules, 2022 - mdpi.com
Hsp90 is a ubiquitous molecular chaperone involved in many cell signaling pathways, and
its interactions with specific chaperones and cochaperones determines which client proteins …