Associated Papers
Olaparib for patients with tumors harboring alterations in homologous recombination repair genes: Results from the drug rediscovery protocol.
Spiekman IAC et al.
International Journal of Cancer, 2026
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 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
Non-MPL-W515K/L mutations in myeloproliferative neoplasms: Insights from two case reports and a review of the literature.
Tønne Nesse AS et al.
Expert Review of Hematology, 2025
SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.
Xing P et al.
Cell Reports, 2025
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.
Mosnier C et al.
Blood Advances, 2025
Association of Specific Gene Mutations with Immunoglobulin Heavy-Chain Variable Region and Chromosomal Alterations in Chronic Lymphocytic Leukemia Patients in India.
Mani S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Wei Q et al.
Cancers, 2024
Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations.
Pacholewska A et al.
Genome Research, 2024
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.
Hägerstrand D et al.
Leukemia, 2024
Molecular impact of mutations in RNA splicing factors in cancer.
Zhang Q et al.
Molecular Cell, 2024
Engineering Oncogenic Hotspot Mutations on SF3B1 via CRISPR-Directed PRECIS Mutagenesis.
Fernandez MM et al.
Cancer Research Communications, 2024
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Blood Advances, 2024
Structural insights into branch site proofreading by human spliceosome.
Zhang X et al.
Nature Structural & Molecular Biology, 2024
R-Loop Accumulation in Spliceosome Mutant Leukemias Confers Sensitivity to PARP1 Inhibition by Triggering Transcription-Replication Conflicts.
Liu ZS et al.
Cancer Research, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
SF3B1 Mutations Are Associated with Resistance to Non-Genotoxic MDM2 Inhibition in Chronic Lymphocytic Leukemia.
Aptullahoglu E et al.
International Journal of Molecular Sciences, 2023
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.
Naeem A et al.
Blood Advances, 2023
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.
Choi IY et al.
Research Square, 2023
Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.
Tague LK et al.
Jci Insight, 2023
RNA splicing dysregulation and the hallmarks of cancer.
Bradley RK et al.
Nature Reviews. Cancer, 2023
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY.
Mansouri L et al.
Leukemia, 2023
Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.
Mancikova V et al.
Molecular Oncology, 2023
Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.
Lemoine S et al.
Haematologica, 2022
SF3B1 mutations in primary and secondary myelofibrosis: Clinical, molecular and prognostic correlates.
Loscocco GG et al.
American Journal of Hematology, 2022
Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.
Ochi T et al.
Scientific Reports, 2022
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42.
Zhao B et al.
Journal of Biochemistry, 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
Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects.
Robertson NA et al.
Nature Medicine, 2022
ATM germline variants in a young adult with chronic lymphocytic leukemia: 8 years of genomic evolution.
Royo R et al.
Blood Cancer Journal, 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