International consensus statement on allergy and rhinology: rhinosinusitis 2021

RR Orlandi, TT Kingdom, TL Smith… - International forum of …, 2021 - Wiley Online Library
I. Executive Summary Background The 5 years since the publication of the first International
Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed …

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 …

The impact of primary ciliary dyskinesia on female and male fertility: a narrative review

L Newman, J Chopra, C Dossett… - Human …, 2023 - academic.oup.com
BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic condition affecting the
structure and function of sperm flagellum and motile cilia including those in the male and …

Understanding primary ciliary dyskinesia and other ciliopathies

A Horani, TW Ferkol - The Journal of pediatrics, 2020 - pmc.ncbi.nlm.nih.gov
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 …

De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry

J Wallmeier, D Frank, A Shoemark… - The American Journal of …, 2019 - cell.com
Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …

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 …

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 …

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …

Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard

N Beydon, P Kouis, JK Marthin, P Latzin… - European …, 2023 - Eur Respiratory Soc
Nasal nitric oxide (nNO) is extremely low in most people with primary ciliary dyskinesia
(PCD) and its measurement is an important contributor to making the diagnosis. Existing …