کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2811472 1569238 2012 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
چکیده انگلیسی

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 90, Issue 5, 4 May 2012, Pages 864–870
نویسندگان
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