Associated Papers
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Wong MMK et al.
Nature Communications, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".
Unknown Author
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.
Kubota Y et al.
Nature Communications, 2024
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L et al.
Haematologica, 2023
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
Analysis of gene mutation characteristics in patients with chronic neutrophilic leukaemia.
Yin B et al.
Hematology (amsterdam, Netherlands), 2019
Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell D et al.
Cancers, 2019
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.
Martín I et al.
Blood Cancer Journal, 2017
Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.
Xu Y et al.
Oncotarget, 2017
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.
Ouyang Y et al.
Oncotarget, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.
Bartels S et al.
Oncotarget, 2016
Myeloid neoplasms with isolated isochromosome 17q demonstrate a high frequency of mutations in SETBP1, SRSF2, ASXL1 and NRAS.
Kanagal-Shamanna R et al.
Oncotarget, 2016
CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia.
Cui Y et al.
Journal of Hematology & Oncology, 2014
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
Meggendorfer M et al.
Leukemia, 2013