Associated Papers
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
Splicing factor 3b subunit 1 mutation patterns and prognostic implications in myelodysplastic syndromes, acute myeloid leukemia, and chronic lymphocytic leukemia: A retrospective study of 1691 cases.
Qiao C et al.
Cancer, 2025
Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.
Tan Y et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.
Marshall CH et al.
Cancers, 2025
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia.
Black GS et al.
Genome Research, 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
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
Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes.
Chen XD et al.
Science (new York, N.y.), 2024
Multiomic single cell sequencing identifies stemlike nature of mixed phenotype acute leukemia.
Peretz CAC et al.
Nature 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
Predicting survival in patients with myelodysplastic/myeloproliferative neoplasms with SF3B1 mutation and thrombocytosis.
Li F et al.
Leukemia, 2024
Structural insights into branch site proofreading by human spliceosome.
Zhang X et al.
Nature Structural & Molecular Biology, 2024
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
Distinct senescence mechanisms restrain progression of dysplastic nevi.
Lorbeer FK et al.
Pnas Nexus, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population.
Morales-Pison S et al.
International Journal of Molecular Sciences, 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 correlations of SF3B1 variants in lactotroph tumours.
Simon J et al.
European Journal of Endocrinology, 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
Clinical characteristics of Japanese patients with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.
Edahiro Y et al.
International Journal of Hematology, 2023
Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.
Wang Y et al.
Clinical and Translational Medicine, 2023
Multiomic Single Cell Sequencing Identifies Stemlike Nature of Mixed Phenotype Acute Leukemia and Provides Novel Risk Stratification.
Peretz CAC et al.
Biorxiv : the Preprint Server for Biology, 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
Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients.
Sadria R et al.
Cancer Reports (hoboken, N.j.), 2023
Genetic and Clinical Characteristics of Korean Chronic Lymphocytic Leukemia Patients with High Frequencies of MYD88 Mutations.
Ahn A et al.
International Journal of Molecular Sciences, 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
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
Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells.
North K et al.
Nature Biotechnology, 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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.
Biezuner T et al.
Nar Genomics and Bioinformatics, 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
IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.
Li Q et al.
Frontiers in Oncology, 2022
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients.
Pacholewska A et al.
International Journal of Molecular Sciences, 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
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 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
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020