Leukemia, Myelocytic, Acute
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.
|
23395771 |
2013 |
Leukemia, Myelocytic, Acute
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.
|
23395771 |
2013 |
Leukemia, Myelocytic, Acute
|
|
0.700 |
GeneticVariation
|
CLINVAR |
SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia.
|
23395771 |
2013 |
MYELODYSPLASTIC SYNDROME
|
|
0.030 |
GeneticVariation
|
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
MYELODYSPLASTIC SYNDROME
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
MYELODYSPLASTIC SYNDROME
|
|
0.030 |
GeneticVariation
|
BEFREE |
Thus, SF3B1(K700E) expression reflects the phenotype of the mutation in MDS and may be a therapeutic target in MDS.
|
27622333 |
2016 |
Chronic Lymphocytic Leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a case-control study, 100 patients with CLL and 105 healthy individuals were investigated for Notch homolog 1, translocation-associated (<i>Drosophila</i>) (NOTCH1) c.7544-7545delCT, recombinant splicing factor 3B subunit 1 (SF3B1) c.2098A>G, mouse double minute 2 homolog (MDM2) 40-bp insertion/deletion and myeloid differentiation primary response 88 (MYD88) L265P mutations by using allele specific-polymerase chain reaction (AS-PCR), a designed AS-PCR, PCR and PCR-restriction fragment length polymorphism methods, respectively.
|
30930998 |
2019 |
Anemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
Acute leukemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
Adult Myelodysplastic Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
Miller Dieker syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.
|
27604819 |
2017 |
Childhood Myelodysplastic Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation.
|
28615231 |
2017 |
Anemia, Macrocytic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion.
|
27622333 |
2016 |
Maturation defect
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion.
|
27622333 |
2016 |
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation.
|
25424858 |
2015 |
Mucinous Adenocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation.
|
25424858 |
2015 |
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation.
|
25424858 |
2015 |
Leukemia, Myelomonocytic, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |