کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4035402 | 1263524 | 2006 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
سیستم های حسی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, consistent with the notion of the existence of genetic and/or epigenetic disease modifiers.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Vision Research - Volume 46, Issue 22, October 2006, Pages 3845–3852
Journal: Vision Research - Volume 46, Issue 22, October 2006, Pages 3845–3852
نویسندگان
Alessandro Iannaccone, Marco Mura, Frank M. Dyka, Maria Laura Ciccarelli, Beverly M. Yashar, Radha Ayyagari, Monica M. Jablonski, Robert S. Molday,