Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome

SF3B1 splicing factor mutations are near-universally found in myelodysplastic syndromes (MDS) with ring sideroblasts (RS), a clonal hematopoietic disorder characterized by abnormal erythroid cells with iron-loaded mitochondria. Despite this remarkably strong genotype-to-phenotype correlation, the me...

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Detalles Bibliográficos
Autores principales: Clough, Courtnee A., Pangallo, Joseph, Sarchi, Martina, Ilagan, Janine O., North, Khrystyna, Bergantinos, Rochelle, Stolla, Massiel C., Naru, Jasmine, Nugent, Patrick, Kim, Eunhee, Stirewalt, Derek L., Subramaniam, Arvind R., Abdel-Wahab, Omar, Abkowitz, Janis L., Bradley, Robert K., Doulatov, Sergei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Myeloid Neoplasia
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972092/
https://www.ncbi.nlm.nih.gov/pubmed/34861039
http://dx.doi.org/10.1182/blood.2021012652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8972092/
https://www.ncbi.nlm.nih.gov/pubmed/34861039
http://dx.doi.org/10.1182/blood.2021012652

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