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 …

[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 …

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

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

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 …

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 …

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

A Shoemark, H Griffin, G Wheway… - European …, 2022 - Eur Respiratory Soc
Background Bronchiectasis can result from infectious, genetic, immunological and allergic
causes. 60–80% of cases are idiopathic, but a well-recognised genetic cause is the motile …

[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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Modelling of primary ciliary dyskinesia using patientderived airway organoids

J Van der Vaart, L Böttinger, MH Geurts… - EMBO …, 2021 - embopress.org
Patientderived human organoids can be used to model a variety of diseases. Recently, we
described conditions for longterm expansion of human airway organoids (AOs) directly …

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

A Shoemark, S Dell, A Shapiro… - European Respiratory …, 2019 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease,
usually inherited in an autosomal recessive pattern. Patients with PCD develop recurrent …