DYX1C1 is required for axonemal dynein assembly and ciliary motility

…, NT Loges, CE Slagle, R Francis, GW Dougherty… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

…, L Ma, HE Shamseldin, H Olbrich, GW Dougherty… - Nature …, 2014 - nature.com
Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin
O) mutations in 16 individuals suffering from chronic destructive lung disease due to …

[HTML][HTML] MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

…, M Jaspers, H Olbrich, GW Dougherty… - Nature …, 2014 - nature.com
Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder.
Affected persons suffer from recurrent infections of upper and lower airways because of …

[PDF][PDF] ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

…, R Hjeij, SD Dell, M Chaki, GW Dougherty… - The American Journal of …, 2013 - cell.com
Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent
respiratory infections and male infertility. Using whole-exome resequencing and high-…

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

…, H Olbrich, K Häffner, GW Dougherty… - European …, 2014 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory
tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the …

[PDF][PDF] CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

…, CE Slagle, NT Klena, GW Dougherty… - The American Journal of …, 2014 - cell.com
A diverse family of cytoskeletal dynein motors powers various cellular transport systems,
including axonemal dyneins generating the force for ciliary and flagellar beating essential to …

[PDF][PDF] ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

…, X Liu, Y Li, R Damerla, GW Dougherty… - The American Journal of …, 2013 - cell.com
The motive forces for ciliary movement are generated by large multiprotein complexes
referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to …

[PDF][PDF] Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

…, J Wallmeier, P Pennekamp, GW Dougherty… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive
disorder, characterized by oto-sino-pulmonary disease and situs abnormalities. PCD-causing …

[PDF][PDF] Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects

…, EA Sistermans, N Bogunovic, GW Dougherty… - The American Journal of …, 2017 - cell.com
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized
by chronic airway disease, infertility, and left-right body axis disturbance. Here we report …

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

…, H Olbrich, NT Loges, I Aprea, GW Dougherty… - 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 …