کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3334263 | 1213393 | 2006 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Dyskeratosis Congenita
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
هماتولوژی
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چکیده انگلیسی
Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. Although DC is classically characterized by mucocutaneous features, the vast majority of patients develop hematologic abnormalities, and in its occult form the disease can present as aplastic anemia. The gene responsible for the X-linked form of the disease encodes a protein involved in ribosome biogenesis and in stabilizing the telomerase complex, while the autosomal dominant form is caused by mutations in the core RNA component of telomerase. It has been suggested that DC is primarily a disease of defective telomere maintenance. Premature shortening of telomeres resulting in a limited proliferative potential of stem cells would explain the pathology observed in DC, as the affected tissues are those that require constant renewal.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Hematology - Volume 43, Issue 3, July 2006, Pages 157-166
Journal: Seminars in Hematology - Volume 43, Issue 3, July 2006, Pages 157-166
نویسندگان
Tom Vulliamy, Inderjeet Dokal,