Dysfunctional cilia can lead to nearly 40 severe human genetic syndromes (ciliopathies) with highly heterogeneous, overlapping phenotypes, affecting as many as 1 in 400 people. We now know that humans critically depend on cilia to see, hear, smell, breathe, excrete and reproduce.

Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease ...

2008年12月2日 · Located at the ends of cilia -- tiny cellular hairs in the ear that move and transmit signals -- the crystals play an important role in detecting sound, maintaining balance and regulating...

2012年12月17日 · Primary cilia are essential in sculpturing the hearing organ and the polar hair bundles via the planar cell polarity (PCP) signaling pathway and in controlling biomineralization in the inner ear.

Scientists have long known that the eardrum vibrates and transmits the vibration to the inner-ear bones, touching off a mechanical process in the cochlea, the snail-shaped organ containing hair cells with bristly cilia that vibrate back and forth in response to sound waves -- the greater the cilia vibration, the louder the sound.

Primary cilia are non-motile plasma membrane extrusions that display a variety of receptors and mechanosensors. Loss of function results in ciliopathies, which have been strongly linked with congenital heart disease, as well as abnormal development and function of most organ systems.

2021年12月3日 · In this Review, we summarize the mechanisms by which cilia contribute to cardiac left–right axis development, identify a role for cilia in congenital heart disease (CHD) and common cardiac...

Ear hairs, or cilia, are tiny structures found in the ear canal. They play a crucial role in maintaining ear health and facilitating hearing. These microscopic hairs are not merely for show; they serve several functions that are vital for the auditory system.

2012年12月11日 · In the past several years a plethora of papers has indicated a crucial role for primary cilia in the development of a wide variety of organs. We have investigated heart development in cobblestone, a hypomorphic allele of the gene encoding the intraflagellar transport protein Ift88, and uncovered a number of the most common congenital heart ...

2014年1月1日 · Recent studies have indicated a major role of different populations of cilia, including nodal and cardiac primary cilia, in coordinating heart development, and defects in these cilia are associated with congenital heart disease. Here, we present an overview of the role of nodal and cardiac primary cilia in heart development.