Results 1 to 10 of about 42 (38)
Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations
Background Airway bacterial infections are frequent in severe asthma and are often under-appreciated as contributors to symptoms and exacerbations. We report our experience using integrative diagnostic methods to identify ciliary motility disorders as ...
Sarita Thawanaphong +13 more
doaj +3 more sources
The EZ-Blocker for one-lung ventilation in a patient with Kartagener syndrome and tracheal bronchus -a case report- [PDF]
Background The tracheal bronchus in Kartagener syndrome (KS) is a rare case that may cause difficulty in one-lung ventilation (OLV). Here we reported a case of successful OLV using bronchial blocker in a patient with tracheal bronchus and KS.
Boo-young Hwang +6 more
doaj +1 more source
A transgenic zebrafish for in vivo visualization of cilia
Cilia are organelles for cellular signalling and motility. Mutations affecting ciliary function are also associated with cilia-related disorders (ciliopathies).
Hongyu Zhang +9 more
doaj +1 more source
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder [PDF]
Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class of disorders that results from the dysfunction of motile cilia. Characterized by respiratory problems appearing in childhood, infertility, and situs defects in ~50% of individuals, PCD has an estimated prevalence of approximately 1 in 10,000 live births ...
Kavita Praveen +2 more
openaire +2 more sources
Primary ciliary dyskinesia [PDF]
In patients with chronic respiratory diseases that last since the early childhood, primary ciliary dyskinesia (PCD) needs to be considered. Four patients reviewed in this paper were with typical disease history and clinical picture, as well as clear ...
Plavec Goran +4 more
doaj +1 more source
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. [PDF]
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ ...
Sebiha Cevik +22 more
doaj +1 more source
Cilia are highly conserved organelles present in almost all types of eukaryotic cells, and defects in cilia structure and/or function are related to many human genetic disorders.
Danxu Tang +14 more
doaj +1 more source
Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151 [PDF]
We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on screening >230 individuals for gene mutations using various approaches including whole exome sequencing. PCD is a genetically heterogeneous recessive ciliopathy, characterized by chronic lung disease and laterality and fertility defects arising from cilia and
Onoufriadis, A +32 more
openaire +1 more source
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. [PDF]
Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive disorders, encoded by two families of diverse genes. BBS and NPH display several overlapping phenotypes including cystic kidney disease, retinitis pigmentosa, liver
Yun Hee Kim +5 more
doaj +1 more source

