Results 21 to 30 of about 19,190 (266)
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms
Biology, 2022 It has been reported that gene mutations in SF3B1 and PHF6 are mutually exclusive. However, this observation has never been rigorously assessed. We report the clinicopathologic and molecular genetic features of 21 cases of myeloid neoplasms with double ...
Zhuang Zuo +12 more
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SF3B1 and the riddle of the ring sideroblast [PDF]
Blood, 2012 In this issue of Blood , Visconte and colleagues report on their investigations into the pathophysiologic effects of altered SF3B1 in patients with myelodysplastic syndromes (MDS).[1][1] A crucial component of the spliceosomal U2snRNP complex, SF3B1 participates in normal RNA splicing.
Norbert Gattermann
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Haematologica, 2020 Chronic lymphocytic leukemia (CLL) is characterized by low CD20 expression, in part explained by an epigenetic-driven downregulation triggered by mutations of the NOTCH1 gene.
Federico Pozzo +17 more
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Revista Brasileira de Hematologia e Hemoterapia, 2016 Background: Myelodysplastic syndromes (MDS) comprise a group of malignant clonal hematologic disorders characterized by ineffective hematopoiesis and propensity for progression to acute myeloid leukemia.
Flávia Sacilotto Donaires +5 more
doaj +2 more sources
SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation
The Journal of Clinical Investigation, 2023 RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly in hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and Atm deletion in B cells, but not either lesion alone, leads to the onset of ...
Martina Cusan +18 more
doaj +2 more sources
Low‐risk MDS—A spotlight on precision medicine for SF3B1‐mutated patients [PDF]
HemaSphereA deep understanding of the biological mechanisms driving the pathogenesis of myelodysplastic neoplasms (MDS) is essential to develop comprehensive therapeutic approaches that will benefit patient's disease management and quality of life. In this review,
Shoshana Burke +2 more
doaj +2 more sources
Journal of Experimental & Clinical Cancer Research, 2022 Background Glioblastoma is one of the most devastating cancer worldwide based on its locally aggressive behavior and because it cannot be cured by current therapies. Defects in alternative splicing process are frequent in cancer.
Antonio C. Fuentes-Fayos +10 more
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Clinicopathologic Characteristics and Prognostic Profile of Chronic Myeloid Neoplasms With Somatic NF1 Mutations in Adult Patients. [PDF]
Eur J HaematolABSTRACT Objectives The clinicopathologic and prognostic features of somatic NF1 mutations have been well studied in pediatric myeloid neoplasms and adult acute myeloid leukemia (AML) but not in adult chronic myeloid neoplasms (CMNs), including myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and myelodysplastic/myeloproliferative ...
Tariq H +9 more
europepmc +2 more sources
Somatic SF3B1 hotspot mutation in prolactinomas [PDF]
Nature Communications, 2020 AbstractThe genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify
Chuzhong Li +24 more
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