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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Pathol
2004 ; 204
(4
): 470-7
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Cilia-related diseases
#MMPMID15495266
Afzelius BA
J Pathol
2004[Nov]; 204
(4
): 470-7
PMID15495266
show ga
There are at least eight categories of cilia in the human body and malfunctioning
of any one or several of them will have different consequences for the patient. A
genetic error of the respiratory cilia (9 + 2) is the cause of the airways
disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia
(9 + 2) carries an increased risk of hydrocephalus. When the so-called nodal
cilia (9 + 0) of the early embryo are malfunctioning, there is a random
determination of asymmetry of the heart and visceral organs ('a 50% risk of situs
inversus'). Some genes are responsible for the synthesis, transport, and assembly
of the cilia, and mutations in these genes may lead to progressive degeneration
of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor
cells-this is the cause of retinitis pigmentosa. Ciliary malfunctions due to
genetic errors tend to be systemic and life-long, whereas acquired diseases are
local and may be temporary only.
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