Associated Papers
SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.
Yang T et al.
Biochimica Et Biophysica Acta. Reviews on Cancer, 2026
Circulating tumor DNA accelerates diagnosis and treatment guidance for metastatic uveal melanoma with hepatic lesions not amenable to biopsy.
Kissinger CR et al.
Melanoma Research, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K et al.
Nature Communications, 2026
Retrospective Study of Trametinib in Patients With Advanced NF1-Mutant Melanoma.
Wang L et al.
Jco Precision Oncology, 2026
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
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
Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.
Del Carpio LP et al.
European Journal of Cancer (oxford, England : 1990), 2025
SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.
Xing P et al.
Cell Reports, 2025
A common structural mechanism for RNA recognition by the SF3B complex in mRNA splicing and export.
Zhang Y et al.
Nucleic Acids Research, 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
Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.
Ganesan A et al.
Scientific Reports, 2025
Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.
Skrehot HC et al.
American Journal of Ophthalmology Case Reports, 2025
Shared neoantigens' atlas for off-the-shelf cancer vaccine development.
Mauriello A et al.
Journal of Translational Medicine, 2025
Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.
Chow RD et al.
Blood Advances, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.
Jutten E et al.
Molecular Diagnosis & Therapy, 2025
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.
Varghese AM et al.
Nature Medicine, 2025
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.
Massimino M et al.
Biomolecules, 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.
Dastpak M et al.
Plos One, 2025
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.
De Sousa SMC et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma.
Nguyen JQN et al.
Investigative Ophthalmology & Visual Science, 2024
Evidence for somatic mutation screening on aggressive prolactinomas.
Theodoropoulou M et al.
Nature Reviews. Endocrinology, 2024
Engineering Oncogenic Hotspot Mutations on SF3B1 via CRISPR-Directed PRECIS Mutagenesis.
Fernandez MM et al.
Cancer Research Communications, 2024
Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.
Chow RD et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic landscape and prognosis of conjunctival melanoma in Chinese patients.
Shi H et al.
The British Journal of Ophthalmology, 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
Direct measurement of engineered cancer mutations and their transcriptional phenotypes in single cells.
Kim HS et al.
Nature Biotechnology, 2024
(G)Patching up mis-splicing in cancer.
Cieśla M et al.
Trends in Biochemical Sciences, 2024
GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
Benbarche S et al.
Molecular Cell, 2024
Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.
Jin P et al.
Cancer Research, 2024
Comprehensive molecular findings in primary malignant melanoma of the esophagus: A multicenter study.
Deng L et al.
Pigment Cell & Melanoma Research, 2024
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.
van Poppelen NM et al.
Investigative Ophthalmology & Visual Science, 2024
Therapeutic strategies for aberrant splicing in cancer and genetic disorders.
Shi W et al.
Clinical Genetics, 2024
A Study of Alternative TrkA Splicing Identifies TrkAIII as a Novel Potentially Targetable Participant in PitNET Progression.
Sbaffone M et al.
Biology, 2024
Treatment of acral and mucosal melanoma: Current and emerging targeted therapies.
Zhang J et al.
Critical Reviews in Oncology/hematology, 2024
Genetic testing in prolactinomas: a cohort study.
Boukerrouni A et al.
European Journal of Endocrinology, 2023
Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.
Torres-Morán M et al.
Cancers, 2023
Genomics, Transcriptomics, and Epigenetics of Sporadic Pituitary Tumors.
Marrero-Rodríguez D et al.
Archives of Medical Research, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Inflammation in the tumor-adjacent lung as a predictor of clinical outcome in lung adenocarcinoma.
Dolgalev I et al.
Nature Communications, 2023