Associated Papers
Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice.
Wang RR et al.
International Journal of Molecular Sciences, 2026
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
SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.
Xing P et al.
Cell Reports, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
Cancer-associated SF3B1 mutations inhibit mRNA nuclear export by disrupting SF3B1-THOC5 interactions.
Liu G et al.
Journal of Biochemistry, 2024
Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations.
Pacholewska A et al.
Genome Research, 2024
Structural insights into branch site proofreading by human spliceosome.
Zhang X et al.
Nature Structural & Molecular Biology, 2024
Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).
Mill CP et al.
Blood Cancer Journal, 2024
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.
Pettersson H et al.
Frontiers in Oncology, 2023
Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.
Zuo Z et al.
Biology, 2022
Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts.
Adema V et al.
Blood Cancer Discovery, 2022
Compartment-specific mutational landscape of clonal hematopoiesis.
Hartmann L et al.
Leukemia, 2022
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 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
SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes.
Lieu YK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.
Venable ER et al.
American Journal of Clinical Pathology, 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
Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.
Vantyghem S et al.
Haematologica, 2021
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 2021
Genetic basis of myelodysplastic syndromes.
Ogawa S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2020
Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1.
Zhang J et al.
Molecular Cell, 2019
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.
Mizuta S et al.
Laboratory Medicine, 2019
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Genomic loss of HLA alleles may affect the clinical outcome in low-risk myelodysplastic syndrome patients.
Montes P et al.
Oncotarget, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 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
A Pilot Study of Clinical Targeted Next Generation Sequencing for Prostate Cancer: Consequences for Treatment and Genetic Counseling.
Cheng HH et al.
The Prostate, 2016
RNA splicing factors as oncoproteins and tumour suppressors.
Dvinge H et al.
Nature Reviews. Cancer, 2016
SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
Zhu Y et al.
Leukemia Research, 2016
SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment.
Mian SA et al.
Nature Communications, 2015
Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers.
DeBoever C et al.
Plos Computational Biology, 2015
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis.
Broséus J et al.
Leukemia, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients.
Lasho TL et al.
Leukemia, 2012
Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes.
Damm F et al.
Blood, 2012
Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.
Malcovati L et al.
Blood, 2011
Splicing factor mutations and cancer.
Yoshida K et al.
Wiley Interdisciplinary Reviews. Rna, 0