Associated Papers
Distinct and convergent effects of SF3B1 mutations in human breast cancer.
Bergman RE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
SF3B1: from core splicing factor to oncogenic driver.
Bak-Gordon P et al.
Rna (new York, N.y.), 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 2024
Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.
Jakobsen NA et al.
Cell Stem Cell, 2024
Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DRlow/neg monocytes in lower-risk myelodysplastic neoplasms.
Winter S et al.
Leukemia, 2024
Outcome heterogeneity of TP53-mutated myeloid neoplasms and the role of allogeneic hematopoietic cell transplantation.
Pasca S et al.
Haematologica, 2024
Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.
Rostami MR et al.
Molecular Therapy. Methods & Clinical Development, 2023
Myelodysplastic syndromes with ring sideroblasts.
Bruzzese A et al.
Hematological Oncology, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 2023
Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.
Uddin MM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.
von Scheidt M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Clonal hematopoiesis is associated with protection from Alzheimer's disease.
Bouzid H et al.
Nature Medicine, 2023
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Ariste O et al.
Clinical Genetics, 2023
Splicing factor deficits render hematopoietic stem and progenitor cells sensitive to STAT3 inhibition.
Potts KS et al.
Cell Reports, 2022
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V et al.
Ebiomedicine, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.
Maurya N et al.
Scientific Reports, 2022
Detection of SF3B1 p.Lys700Glu Mutation by PNA-PCR Clamping in Myelodysplastic Syndromes and Myeloproliferative Neoplasms.
Petiti J et al.
Journal of Clinical Medicine, 2022
Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.
Venable ER et al.
American Journal of Clinical Pathology, 2021
Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.
Janusz K et al.
Annals of Hematology, 2021
Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype.
Duetz C et al.
British Journal of Haematology, 2021
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton LA et al.
Haematologica, 2021
Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.
Liu B et al.
The Journal of Clinical Investigation, 2021
Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.
Alsafadi S et al.
Oncogene, 2021
Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.
Canbezdi C et al.
Computational and Structural Biotechnology Journal, 2021
Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.
Diefenbach RJ et al.
Cancers, 2020
Comparison of SF3B1/DNMT3A Comutations With DNMT3A or SF3B1 Mutation Alone in Myelodysplastic Syndrome and Clonal Cytopenia of Undetermined Significance.
Song J et al.
American Journal of Clinical Pathology, 2020
In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1K700E Mutant.
Samy A et al.
Biomolecules, 2020
The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.
Dalton WB et al.
Blood Advances, 2020
Single-cell analysis based dissection of clonality in myelofibrosis.
Mylonas E et al.
Nature Communications, 2020
Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.
Foy A et al.
Journal of Clinical Pathology, 2019
Spliceosomal disruption of the non-canonical BAF complex in cancer.
Inoue D et al.
Nature, 2019
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome.
Bondu S et al.
Science Translational Medicine, 2019
Clinical resistance to crenolanib in acute myeloid leukemia due to diverse molecular mechanisms.
Zhang H et al.
Nature Communications, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
A comprehensive characterization of cis-acting splicing-associated variants in human cancer.
Shiraishi Y et al.
Genome Research, 2018
Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.
Martín I et al.
Blood Cancer Journal, 2017
Negative impact on clinical outcome of the mutational co-occurrence of SF3B1 and DNMT3A in refractory anemia with ring sideroblasts (RARS).
Martín I et al.
Leukemia & Lymphoma, 2017
SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.
Tang Q et al.
Genes & Development, 2016
RNA splicing factors as oncoproteins and tumour suppressors.
Dvinge H et al.
Nature Reviews. Cancer, 2016
Tumor suppressor microRNAs are downregulated in myelodysplastic syndrome with spliceosome mutations.
Aslan D et al.
Oncotarget, 2016