iPSC Modeling of Stage-Specific Leukemogenesis Reveals BAALC as a Key Oncogene in Severe Congenital Neutropenia

Researchers established a model of stepwise leukemogenesis in congenital neutropenia (CN)/acute myeloid leukemiausing CRISPR-Cas9 gene editing of CN patient-derived iPSCs.
[Cell Stem Cell]
Dannenmann, B., Klimiankou, M., Oswald, B., Solovyeva, A., Mardan, J., Nasri, M., Ritter, M., Zahabi, A., Arreba-Tutusaus, P., Mir, P., Stein, F., Kandabarau, S., Lachmann, N., Moritz, T., Morishima, T., Konantz, M., Lengerke, C., Ripperger, T., Steinemann, D., … Skokowa, J. (2021). iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia. Cell Stem Cell, 0(0). https://doi.org/10.1016/j.stem.2021.03.023 Cite
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Dissecting ELANE Neutropenia Pathogenicity by Human HSC Gene Editing

Researchers conducted a pooled CRISPR screen in human hematopoietic stem and progenitor cells that correlated ELANE mutations with neutrophil maturation potential.
[Cell Stem Cell]
Rao, S., Yao, Y., Brito, J. S. de, Yao, Q., Shen, A. H., Watkinson, R. E., Kennedy, A. L., Coyne, S., Ren, C., Zeng, J., Serbin, A. V., Studer, S., Ballotti, K., Harris, C. E., Luk, K., Stevens, C. S., Armant, M., Pinello, L., Wolfe, S. A., … Bauer, D. E. (2021). Dissecting ELANE neutropenia pathogenicity by human HSC gene editing. Cell Stem Cell, 0(0). https://doi.org/10.1016/j.stem.2020.12.015 Cite
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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

Scientists report a new patient with a novel frameshift mutation and compared this patient with the previously reported SMARCD2-mutant patients, aiming to provide a more comprehensive understanding of the natural course of the disease.
[Journal of Clinical Immunology]
Yucel, E., Karakus, I. S., Krolo, A., Kiykim, A., Heredia, R. J., Tamay, Z., Cipe, F. E., Karakoc-Aydiner, E., Ozen, A., Karaman, S., Boztug, K., & Baris, S. (2020). Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis. Journal of Clinical Immunology. https://doi.org/10.1007/s10875-020-00878-4 Cite
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Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia

To investigate how the combination of CSF3 therapy and CSF3R and RUNX1 mutations contributes to acute myeloid leukemia (AML) development, researchers make use of mouse models, severe congenital neutropenia (SCN)-derived iPSCs, and SCN and SCN-AML patient samples.
[Cell Reports Medicine]

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