Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Cilia play essential roles in normal human development and health; cilia dysfunction results in diseases such as primary ciliary dyskinesia (PCD). Despite their importance, the native structure of human cilia is unknown, and structural defects in the cilia of patients are often undetectable or remain elusive because of heterogeneity. Here we develop an approach that enables visualization of hum...

Ciliary defects and genetics of primary ciliary dyskinesia.

Cilia are evolutionarily conserved structures that play key roles in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD) that combines respiratory symptoms, male infertility, and, in nearly 50% cases, situs inversus. The diagnosis of PCD relies on the identification of ciliary abnormalities that mainly concern outer and/or inner...

Ciliary dyskinesias: primary ciliary dyskinesia in adults

Primary ciliary dyskinesia (PCD) is a genetic disorder of cilia structure and function, chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Establishing a definitive diagnosis can be challenging, requiring a compatible phenotype and detection of ciliary functional and ultra-structural defects, along with newer screening tools such as nasal nitric o...

Primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....

[Primary ciliary dyskinesia].