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2016 ; 18
(ä): 18-24
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Genetics and biology of primary ciliary dyskinesia
#MMPMID26476603
Horani A
; Ferkol TW
; Dutcher SK
; Brody SL
Paediatr Respir Rev
2016[Mar]; 18
(ä): 18-24
PMID26476603
show ga
Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal
structure and function. Our understanding of the complex genetic and functional
phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia
(PCD) remains the sole genetic disorder of motile cilia dysfunction. However,
unlike many Mendelian genetic disorders, PCD is not caused by mutations in a
single gene or locus, but rather, autosomal recessive mutation in one of many
genes that lead to a similar phenotype. The first reported PCD mutations, more
than a decade ago, identified genes encoding known structural components of the
ciliary axoneme. In recent years, mutations in genes encoding novel cytoplasmic
and regulatory proteins have been discovered. These findings have provided new
insights into the functions of the motile cilia, and a better understanding of
motile cilia disease. Advances in genetic tools will soon allow more precise
genetic testing, mandating that clinicians must understand the genetic basis of
PCD. Here, we review genetic mutations, their biological impact on cilia
structure and function, and the implication of emerging genetic diagnostic tools.
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