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]
Olofsen, P. A., Fatrai, S., Strien, P. M. H. van, Obenauer, J. C., Looper, H. W. J. de, Hoogenboezem, R. M., Erpelinck-Verschueren, C. A. J., Vermeulen, M. P. W. M., Roovers, O., Haferlach, T., Jansen, J. H., Ghazvini, M., Bindels, E. M. J., Schneider, R. K., Pater, E. M. de, & Touw, I. P. (2020). Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia. Cell Reports Medicine, 1(5). https://doi.org/10.1016/j.xcrm.2020.100074 Cite
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