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 …
Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed …
Motile ciliopathies
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) …
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …
Primary ciliary dyskinesia in the genomics age
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …
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 …
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 …
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 …
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …
Diagnosis of primary ciliary dyskinesia
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 …
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 …
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
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 …
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
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 …
(PCD) and its measurement is an important contributor to making the diagnosis. Existing …