usher syndromes/dyskinesias

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Emerging ciliopathies: are respiratory cilia compromised in Usher syndrome?

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OBJECTIVE Usher syndrome is a ciliopathy involving photoreceptors and cochlear hair cells (sensory cilia): since sensory and motor ciliopathies can overlap, we analysed the respiratory cilia (motile) in 17 patients affected by Usher syndrome and 18 healthy control subject. METHODS We studied the

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.

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Male infertility is one possible consequence of a group of disorders arising from dysfunction of cilia. Ciliopathies include primary ciliary dyskinesia, polycystic kidney disease, Usher syndrome, nephronophthisis, Bardet-Biedl syndrome, Alstrom syndrome, and Meckel-Gruber syndrome as well as some

Nasal nitric oxide in patients with inherited retinal dystrophies.

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BACKGROUND Ciliopathies refer to a wide variety of diseases in which mutations in the genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia play pathogenetic roles, and in such diseases, retinal involvement may be present. Nitric oxide (NO) plays an important

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