کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5504245 1535868 2017 12 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Splicing factor gene mutations in the myelodysplastic syndromes: impact on disease phenotype and therapeutic applications
ترجمه فارسی عنوان
جهش های ژن عامل فشرده سازی در سندرم های میلولد پلاسمی: تاثیر بر فنوتیپ های بیماری و کاربردهای درمانی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
چکیده انگلیسی
Splicing factor gene mutations are the most frequent mutations found in patients with the myeloid malignancy myelodysplastic syndrome (MDS), suggesting that spliceosomal dysfunction plays a major role in disease pathogenesis. The aberrantly spliced target genes and deregulated cellular pathways associated with the commonly mutated splicing factor genes in MDS (SF3B1, SRSF2 and U2AF1) are being identified, illuminating the molecular mechanisms underlying MDS. Emerging data from mouse modeling studies indicate that the presence of splicing factor gene mutations can lead to bone marrow hematopoietic stem/myeloid progenitor cell expansion, impaired hematopoiesis and dysplastic differentiation that are hallmarks of MDS. Importantly, recent evidence suggests that spliceosome inhibitors and splicing modulators may have therapeutic value in the treatment of splicing factor mutant myeloid malignancies.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Advances in Biological Regulation - Volume 63, January 2017, Pages 59-70
نویسندگان
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