کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4171593 1275663 2009 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Ciliary defects and genetics of primary ciliary dyskinesia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Ciliary defects and genetics of primary ciliary dyskinesia
چکیده انگلیسی

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 dynein arms (ODA, IDA). PCD is a genetic condition, usually inherited as an autosomal recessive trait. To date, six genes have been clearly implicated in PCD. Two “major” genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects, whereas RPGR, DNAH11 and TXNDC3 are implicated in rare families with specific phenotypes (retinitis pigmentosa, abnormal beating of structurally normal cilia, and situs ambiguous, respectively). The relative contribution of DNAI2 is currently being assessed. In all the other patients with ODA or other ultrastructural defects, the causative genes remain to be identified.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Paediatric Respiratory Reviews - Volume 10, Issue 2, June 2009, Pages 51–54
نویسندگان
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