Recruitment of MLL1 complex is essential for SETBP1 to induce myeloid transformation
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DOI: 10.1016/j.isci.2021.103679
Abstract: Summary Abnormal activation of SETBP1 due to overexpression or missense mutations occurs frequently in various myeloid neoplasms and associates with poor prognosis. Direct activation of Hoxa9/Hoxa10/Myb transcription by SETBP1 and its missense mutants is essential… read more here.
Keywords: setbp1; mll1 complex; activation; recruitment mll1 ... See more keywords
Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia
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DOI: 10.18632/oncotarget.15355
Abstract: Chronic neutrophilic leukemia (CNL) and chronic myelomonocytic leukemia (CMML) are rare hematologic neoplasms. We performed CSF3R, SRSF2 and SETBP1 mutational analyses in 10 CNL and 56 CMML patients. In this sample cohort, 80% of CNL… read more here.
Keywords: cmml patients; setbp1; srsf2; csf3r ... See more keywords
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
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DOI: 10.3389/fped.2022.920741
Abstract: Schinzel–Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. SGS is associated with de novo pathogenic variants in the SETBP1 gene. In specific, SETBP1… read more here.
Keywords: chinese neonate; giedion syndrome; schinzel giedion; setbp1 ... See more keywords