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) …

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 …

100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report

100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

SARS-CoV-2 infection induces the dedifferentiation of multiciliated cells and impairs mucociliary clearance

R Robinot, M Hubert, GD de Melo, F Lazarini… - Nature …, 2021 - nature.com
Understanding how SARS-CoV-2 spreads within the respiratory tract is important to define
the parameters controlling the severity of COVID-19. Here we examine the functional and …

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

SC Jin, W Dong, AJ Kundishora, S Panchagnula… - Nature medicine, 2020 - nature.com
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …

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 …

Understanding primary ciliary dyskinesia and other ciliopathies

A Horani, TW Ferkol - The Journal of pediatrics, 2021 - jpeds.com
Ciliopathies are a collection of disorders related to cilia dysfunction. Cilia are specialized
organelles that project from the surface of most cells. Motile and primary (sensory) cilia are …

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 …

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 …

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 …