The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Open accessAbstract
We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. The resulting alterations reside within the second zinc finger of GATA2, which mediates DNA-binding and protein-protein interactions. We show differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression. Identification of such predisposing genes to familial forms of MDS and AML is critical for more effective diagnosis and prognosis, counseling, selection of related bone marrow transplant donors and development of therapies.
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Negative cross-talk between hematopoietic regulators: GATA proteins repress PU.1
Zhang, P., Behre, G., Pan, J., Iwama, A., Wara-aswapati, N., Radomska, H. S., Auron, P. E., Tenen, D. G., & Sun, Z. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.15.8705 · Cited by 459
Self-Association of the Erythroid Transcription Factor GATA-1 Mediated by Its Zinc Finger Domains
Crossley, M., Merika, M., & Orkin, S. H. (1995) · Molecular and Cellular Biology · doi:10.1128/mcb.15.5.2448 · Cited by 183
Cited by
A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia
Gröschel, S., Sanders, M. A., Hoogenboezem, R., de Wit, E., Bouwman, B. A. M., Erpelinck, C., van der Velden, V. H. J., Havermans, M., Avellino, R., van Lom, K., et al. (2014) · Cell · doi:10.1016/j.cell.2014.02.019 · Cited by 687
Reconstructing gene regulatory dynamics from high-dimensional single-cell snapshot data
Ocone, A., Haghverdi, L., Mueller, N. S., & Theis, F. J. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv257 · Cited by 155
Ferrando, A. A., & López-Otín, C. (2017) · Nature Medicine · doi:10.1038/nm.4410 · Cited by 120
Freire, P. R., & Conneely, O. M. (2018) · Blood · doi:10.1182/blood-2017-07-795757 · Cited by 70
Subramanian, S., Thoms, J. A. I., Huang, Y., Cornejo-Páramo, P., Koch, F. C., Jacquelin, S., Shen, S., Song, E., Joshi, S., Brownlee, C., et al. (2023) · Blood · doi:10.1182/blood.2023021120 · Cited by 57
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Metadata
- Authors
- Hahn, C. N., Chong, C.-E., Carmichael, C. L., Wilkins, E. J., Brautigan, P. J., Li, X.-C., Babic, M., Lin, M., Carmagnac, A., Lee, Y. K., Kok, C. H., Gagliardi, L., Friend, K. L., Ekert, P. G., Butcher, C. M., Brown, A. L., Lewis, I. D., To, L. B., Timms, A. E., Storek, J., Moore, S., Altree, M., Escher, R., Bardy, P. G., Suthers, G. K., D'Andrea, R. J., Horwitz, M. S., & Scott, H. S.
- Venue
- Nature Genetics
- Published
- 2011-09-04
- Volume
- 43
- Issue
- 10
- Pages
- 1012-1017
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1999580244
- Cited by
- 606
- References
- 2
- FWCI
- 22.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Hahn, C. N., Chong, C.-E., Carmichael, C. L., Wilkins, E. J., Brautigan, P. J., Li, X.-C., Babic, M., Lin, M., Carmagnac, A., Lee, Y. K., Kok, C. H., Gagliardi, L., Friend, K. L., Ekert, P. G., Butcher, C. M., Brown, A. L., Lewis, I. D., To, L. B., Timms, A. E., . . . Scott, H. S. (2011). Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics. https://doi.org/10.1038/ng.913
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
