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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Self-citationHymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia
O’Connell, M. P., & Lyons, J. J. (2020) · Current Opinion in Allergy & Clinical Immunology · doi:10.1097/aci.0000000000000678 · Cited by 53
Inherited and acquired determinants of serum tryptase levels in humans
Lyons, J. J. (2021) · Annals of Allergy, Asthma & Immunology · doi:10.1016/j.anai.2021.06.019 · Cited by 52
Wu, X., Deng, J., Zhang, N., Liu, X., Zheng, X., Yan, T., Ye, W., & Gong, Y. (2022) · BMC Cancer · doi:10.1186/s12885-022-09347-0 · Cited by 10
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
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.
