Associated Papers
CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.
Romero-Moya D et al.
Leukemia, 2025
40954215 (PubMed )
Supplement: 41375_2025_2771_MOESM6_ESM.xlsx › VAF_clones
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
41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM6_ESM.xlsx › Sheet1
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
28346496 (PubMed )
Supplement: pgen.1006683.s004.xlsx › Somatic_mutations
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.
Pellagatti A et al.
Leukemia, 2016
25991409 (PubMed )
Supplement: leu2015129x2.xls › Sheet1
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Fernandez-Mercado M et al.
British Journal of Haematology, 2013
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
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