Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, ...

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

Cilia are outgrowths of the plasma membrane of eukaryotic cells that contain a specialised cytoskeleton. Motile cilia are present on multiciliated cells and use this cytoskeleton to move fluid ...

Background: Among patients with autism spectrum disorders (ASD) evaluated in our clinic, there appears to be a subset that can be clinically distinguished from other ASD children because of ...

Primary ciliary dyskinesia, formerly known as immobile cilia syndrome, is caused by defects in the structure and function of cilia. Chronic sinusitis, otitis media, infertility, inverted position, and ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

med.unipi.it Background In primary ciliary dyskinesia (PCD) lung damage is usually evaluated by high-resolution CT (HRCT). Objective To evaluate whether HRCT abnormalities and Pseudomonas aeruginosa ...

Our findings suggest a novel dual role for IFT172 in both structural support within IFT trains and regulation of ciliary ubiquitination and signaling pathways, providing new insights into the ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

1 Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK Background Quality of life (QOL)-primary ciliary dyskinesia (PCD) is the first ...

These structures are critical for formation of the primary cilium, by regulating at least four critical steps: ciliary vesicle recruitment, recruitment and initiation of intraflagellar transport (IFT) ...