کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3331942 1590863 2009 22 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی هماتولوژی
پیش نمایش صفحه اول مقاله
Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis
چکیده انگلیسی

Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a predisposition to cancer. Faulty ribosome biogenesis, resulting in proapoptotic erythropoiesis leading to erythroid failure, is hypothesized to be the underlying defect. The genes identified to date that are mutated in DBA all encode ribosomal proteins associated with either the small or large subunit and in these cases haploinsufficiency gives rise to the disease. Extraordinarily robust laboratory and clinical investigations have recently led to demonstrable improvements in clinical care for patients with DBA.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Hematology/Oncology Clinics of North America - Volume 23, Issue 2, April 2009, Pages 261–282
نویسندگان
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