New insights into 5q- syndrome as a ribosomopathy
| العنوان: | New insights into 5q- syndrome as a ribosomopathy |
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| المؤلفون: | Nicola Trim, Jillian L. Barlow, Wendy N. Erber, Alan J. Warren, Lesley F Drynan, Andrew N. J. McKenzie |
| المصدر: | Cell Cycle. 9:4286-4293 |
| بيانات النشر: | Informa UK Limited, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Ribosomal Proteins, Candidate gene, Ribosomopathy, Gene mutation, Biology, Mice, microRNA, medicine, Animals, Humans, Anemia, Macrocytic, Molecular Biology, Genetics, Ineffective Hematopoiesis, Myelodysplastic syndromes, Histocompatibility Antigens Class II, Membrane Proteins, Cell Biology, medicine.disease, Neoplasm Proteins, Antigens, Differentiation, B-Lymphocyte, Disease Models, Animal, MicroRNAs, medicine.anatomical_structure, Chromosomes, Human, Pair 5, RNA Interference, Bone marrow, Chromosome Deletion, Tumor Suppressor Protein p53, Haploinsufficiency, Developmental Biology |
| الوصف: | Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haplo-insufficencies, which can occur within large deleted regions. However, there is an increasing interest in the classification of some of these diseases as ribosomopathies. Indeed, studies have implicated Ribosomal Protein (RP) S14 as a strong candidate for haploinsufficiency in 5q- syndrome, a particular form of MDS. Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome. In this review we will discuss: 5q- syndrome mouse models, the possible mechanisms underlying this blood disorder with respect to the candidate genes and comparisons with other ribosomopathies and the involvement of the p53 pathway in these diseases. |
| تدمد: | 1551-4005 1538-4101 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::481f05d07d85687fa70366a21b5210e6Test https://doi.org/10.4161/cc.9.21.13742Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....481f05d07d85687fa70366a21b5210e6 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15514005 15384101 |
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