|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).
|
30618061 |
2019 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of SF3B1 Mutation Screening by High-Resolution Melting Analysis and its Clinical Utility for Myelodysplastic Syndrome with Ring Sideroblasts at the Point of Diagnosis.
|
30590617 |
2019 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
Biomarker
|
disease |
BEFREE |
SF3B1 mutations have been implicated in the pathophysiology of RARS; however, the physiological function of SF3B1 in erythropoiesis remains unknown.
|
29433555 |
2018 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).
|
28188970 |
2017 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we will review recent insights into the molecular mechanisms of mis-splicing caused by mutant SF3B1 and the pathogenesis of RSs in the context of congenital sideroblastic anemia as well as RARS with SF3B1 mutations.
|
28466384 |
2017 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
Biomarker
|
disease |
BEFREE |
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS).
|
27771989 |
2017 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More than 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1).
|
27622333 |
2016 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations were detected in 33 out of fifty-two MDS-RS patients (63%).
|
26970172 |
2016 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations and Karyotype: Mutations in the SF3B1 gene are seen in ≥80% of patients with RARS and RARS-T, and strongly correlate with the presence of BM RS; RARS-T patients have additional mutations such as, JAK2V617F (∼60%), MPL (<5%), and CALR (<5%).
|
25899435 |
2015 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of SF3B1 gene mutations is a hallmark of refractory anemia with ring sideroblasts (RARS).
|
25955609 |
2015 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data indicate that SF3B1 has a critical role in MDS by affecting the expression and splicing of genes involved in specific cellular processes/pathways, many of which are relevant to the known RARS pathophysiology, suggesting a causal link.
|
25428262 |
2015 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SF3B1 mutations were detected in 129 of 159 cases (81%) of RARS or RCMD-RS.
|
25957392 |
2015 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, SF3B1 mutations were identified in 10% of total cohort of 479 MDS patients and 61.8% of 34 patients with refractory anemia with ring sideroblasts (RARS).
|
24723457 |
2014 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that the level of Sf3b1 expression is critical for the proliferative capacity of HSCs, but the haploinsufficiency for Sf3b1 is not sufficient to induce a RARS-like phenotype.
|
24735968 |
2014 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RARS-T may develop from an SF3B1 mutated RARS through the acquisition of a JAK2 or MPL mutations in a subclone of hematopoietic cells.
|
24507814 |
2013 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation.
|
23070040 |
2013 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
SomaticCausalMutation
|
disease |
ORPHANET |
Refractory anemia with ring sideroblasts.
|
24507814 |
2013 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Reliable genotype/phenotype relationships include the association of the SF3B1 mutation with refractory anemia with ring sideroblasts, TET2/SRSF2 comutation with chronic myelomonocytic leukemia, and activating CSF3R mutation with chronic neutrophilic leukemia.
|
24136165 |
2013 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sideroblasts, a condition characterized by ineffective erythropoiesis and parenchymal iron overload.
|
23300182 |
2013 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Based on the high frequency of mutations of SF3B1 in RARS/RARS-T, we investigated the consequences of SF3B1 alterations.
|
22826563 |
2012 |
|
Refractory anemia with ringed sideroblasts
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|