Sleep disordered breathing and airway disease in primary ciliary dyskinesia

Respirology ◽  
2014 ◽  
Vol 19 (4) ◽  
pp. 570-575 ◽  
Author(s):  
Francesca Santamaria ◽  
Maria Esposito ◽  
Silvia Montella ◽  
Elena Cantone ◽  
Carmine Mollica ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Sleep Disordered Breathing ◽  
Airway Disease ◽  
Ciliary Dyskinesia ◽  
Disordered Breathing

Sleep disordered breathing in children with primary ciliary dyskinesia (PCD)

2016 ◽  
Author(s):  
Eleonora Dehlink ◽  
Chris Grime ◽  
Prasad Nagakumar ◽  
Vivien Mak ◽  
Andy Bush ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Sleep Disordered Breathing ◽  
Ciliary Dyskinesia ◽  
Disordered Breathing

Sleep disordered breathing in patients with primary ciliary dyskinesia

2012 ◽  
Vol 48 (9) ◽  
pp. 897-903 ◽  
Author(s):  
Sedat Oktem ◽  
Bulent Karadag ◽  
Ela Erdem ◽  
Yasemin Gokdemir ◽  
Fazilet Karakoc ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Sleep Disordered Breathing ◽  
Ciliary Dyskinesia ◽  
Disordered Breathing

scholarly journals Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

2017 ◽  
Author(s):  
Inga M. Höben ◽  
Rim Hjeij ◽  
Heike Olbrich ◽  
Gerard W. Dougherty ◽  
Tabea Menchen ◽  
...  
Keyword(s):  
Male Infertility ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Defect ◽  
Clinical Importance ◽  
Airway Disease ◽  
Cytoplasmic Dynein ◽  
Loss Of Function ◽  
Reading Frame ◽  
Dynein Arms ◽  
Ciliary Dyskinesia

AbstractPrimary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open reading frame C11ORF70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11ORF70 cause immotility of respiratory cilia and sperm flagella, respectively, due to loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11ORF70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11ORF70 showed that C11ORF70 is expressed in ciliated respiratory cells and that the expression of C11ORF70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein arm assembly factors. Furthermore, C11ORF70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11ORF70 is a novel preassembly factor involved in the pathogenesis of PCD. The identification of a novel genetic defect that causes PCD and male infertility is of great clinical importance as well as for genetic counselling.

Airway disease and inhaled corticosteroids (ICS) in children with primary ciliary dyskinesia (PCD)

2016 ◽  
Author(s):  
Eleonora Dehlink ◽  
Charlotte Richardson ◽  
Gemma Marsh ◽  
Kiri Pares ◽  
Angela Jamalzadeh ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Inhaled Corticosteroids ◽  
Airway Disease ◽  
Ciliary Dyskinesia

Sleep and Sleep-disordered Breathing in Adults with Predominantly Mild Obstructive Airway Disease

2003 ◽  
Vol 167 (1) ◽  
pp. 7-14 ◽  
Author(s):  
Mark H. Sanders ◽  
Anne B. Newman ◽  
Catherine L. Haggerty ◽  
Susan Redline ◽  
Michael Lebowitz ◽  
...  
Keyword(s):  
Sleep Disordered Breathing ◽  
Airway Disease ◽  
Obstructive Airway Disease ◽  
Disordered Breathing
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