Cargando…
Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts
Refractory anaemia with ring sideroblasts (RARS) is distinguished by hyperplastic inefficient erythropoiesis, aberrant mitochondrial ferritin accumulation and anaemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of RARS cases. To explore the link between SF3B1 mutati...
Autores principales: | Conte, Simona, Katayama, Shintaro, Vesterlund, Liselotte, Karimi, Mohsen, Dimitriou, Marios, Jansson, Monika, Mortera‐Blanco, Teresa, Unneberg, Per, Papaemmanuil, Elli, Sander, Birgitta, Skoog, Tiina, Campbell, Peter, Walfridsson, Julian, Kere, Juha, Hellström‐Lindberg, Eva |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832260/ https://www.ncbi.nlm.nih.gov/pubmed/26255870 http://dx.doi.org/10.1111/bjh.13610 |
Ejemplares similares
-
Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond–Blackfan anaemia
por: Sjögren, Sara E., et al.
Publicado: (2015) -
A novel SF3B1 variant in a patient with MDS with ring sideroblasts
por: Al‐Ghamdi, Yahya A., et al.
Publicado: (2022) -
Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)‐mutant myelodysplastic syndromes subtype
por: Duetz, Carolien, et al.
Publicado: (2021) -
Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts
por: Todisco, Gabriele, et al.
Publicado: (2023) -
Clinical significance of nuclear non-phosphorylated beta-catenin in acute myeloid leukaemia and myelodysplastic syndrome
por: Xu, Jinglan, et al.
Publicado: (2008)