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) …

[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 …

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

WB Hannah, BA Seifert, R Truty… - The Lancet …, 2022 - thelancet.com
Background Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterised by
otosinopulmonary infections. Inheritance is commonly autosomal recessive, with extensive …

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 …

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] 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 …

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 …

[HTML][HTML] The Cilialyzer–A freely available open-source software for the analysis of mucociliary activity in respiratory cells

M Schneiter, SA Tschanz, A Escher, L Müller… - Computer methods and …, 2023 - Elsevier
Abstract Background and Objective Primary ciliary dyskinesia (PCD) is a rare genetic
disorder causing a defective ciliary structure, which predominantly leads to an impaired …

[HTML][HTML] Progress in diagnosing primary ciliary dyskinesia: the North American perspective

MG O'Connor, A Horani, AJ Shapiro - Diagnostics, 2021 - mdpi.com
Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory
ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype …

Primary ciliary dyskinesia

A Shoemark, K Harman - Seminars in respiratory and critical …, 2021 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD
prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 …