The development and functions of multiciliated epithelia

N Spassky, A Meunier - Nature reviews Molecular cell biology, 2017 - nature.com
Multiciliated cells are epithelial cells that are in contact with bodily fluids and are required for
the proper function of major organs including the brain, the respiratory system and the …

[HTML][HTML] Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

MW Leigh, JE Pittman, JL Carson, TW Ferkol… - Genetics in …, 2009 - Elsevier
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the
disease-causing mutations identified to date involve the heavy (dynein axonemal heavy …

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

L Bartoloni, JL Blouin, Y Pan… - Proceedings of the …, 2002 - National Acad Sciences
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary
dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis …

Genetic defects in ciliary structure and function

MA Zariwala, MR Knowles, H Omran - Annu. Rev. Physiol., 2007 - annualreviews.org
Cilia, hair-like structures extending from the cell membrane, perform diverse biological
functions. Primary (genetic) defects in the structure and function of sensory and motile cilia …

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

C Guichard, MC Harricane, JJ Lafitte, P Godard… - The American Journal of …, 2001 - cell.com
Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs
inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells …

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

GC Schwabe, K Hoffmann, NT Loges, D Birker… - Human …, 2008 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by perturbed or
absent beating of motile cilia, which is referred to as Kartagener syndrome (KS) when …

Cystic fibrosis and other respiratory diseases of impaired mucus clearance

A Livraghi, SH Randell - Toxicologic pathology, 2007 - journals.sagepub.com
Exposed to a diverse array of potentially noxious agents, the respiratory tract is protected by
a highly developed innate defense system. Physiologically regulated epithelial ion and …

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

B Duriez, P Duquesnoy, E Escudier… - Proceedings of the …, 2007 - National Acad Sciences
Thioredoxins belong to a large family of enzymatic proteins that function as general protein
disulfide reductases, therefore participating in several cellular processes via redox-mediated …

Forkhead transcription factors in immunology

H Jonsson, SL Peng - Cellular and Molecular Life Sciences CMLS, 2005 - Springer
The forkhead (Fox) gene family comprises a diverse group of 'winged-helix'transcription
factors that play important roles in development, metabolism, cancer and aging. Recently …

RFX3 modulation of FOXJ1 regulation of cilia genes in the human airway epithelium

L Didon, RK Zwick, IW Chao, MS Walters, R Wang… - Respiratory …, 2013 - Springer
Background Ciliated cells play a central role in cleansing the airways of inhaled
contaminants. They are derived from basal cells that include the airway stem/progenitor …