The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia
Open accessAbstract
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and secondary myelodysplasia/acute myeloid leukemia. Leukemic cells from the proband in the second kindred showed deletion of wild type ETV6 with retention of the ETV6 p. N385fs. Enforced expression of the ETV6 mutants revealed normal transcript and protein levels, but impaired nuclear localization. Accordingly, these mutants exhibited significantly reduced ability to regulate the transcription of ETV6 target genes. Our findings highlight a novel role for ETV6 in leukemia predisposition.
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Cites
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
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Sherry, S. T. (2001) · Nucleic Acids Research · doi:10.1093/nar/29.1.308 · Cited by 7,502
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project (2012) · Nature Genetics · doi:10.1038/ng.1102 · Cited by 1,724
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596 · cited 1×
“contribute to childhood leukemia, we screened a cohort of 588 leukemia patients evaluated through the PCGP, a genomic sequencing effort involving pediatric cancers [4,28–42](accession# EGAS00001000348, EGAS00001000654, EGAS00001000380, EGAS00001000253, EGAS00001000246, EGAS00001000447).”
MethodSelf-citationSong, W.-J., Sullivan, M. G., Legare, R. D., Hutchings, S., Tan, X., Kufrin, D., Ratajczak, J., Resende, I. C., Haworth, C., Hock, R., et al. (1999) · Nature Genetics · doi:10.1038/13793 · Cited by 1,100
Recurrent Somatic Structural Variations Contribute to Tumorigenesis in Pediatric Osteosarcoma
Chen, X., Bahrami, A., Pappo, A., Easton, J., Dalton, J., Hedlund, E., Ellison, D., Shurtleff, S., Wu, G., Wei, L., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.003 · Cited by 752
Self-citationSavage, S. A., & Alter, B. P. (2009) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2009.01.003 · Cited by 262
DNA Binding by the ETS Protein TEL (ETV6) Is Regulated by Autoinhibition and Self-association
Green, S. M., Coyne, H. J., McIntosh, L. P., & Graves, B. J. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.096958 · Cited by 69
Cited by
Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K., Deubzer, H., Dirksen, U., Eckert, C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38142 · Cited by 283
Metadata
- Authors
- Topka, S., Vijai, J., Walsh, M. F., Jacobs, L., Maria, A., Villano, D., Gaddam, P., Wu, G., McGee, R. B., Quinn, E., Inaba, H., Hartford, C., Pui, C.-H., Pappo, A., Edmonson, M., Zhang, M. Y., Stepensky, P., Steinherz, P., Schrader, K., Lincoln, A., Bussel, J., Lipkin, S. M., Goldgur, Y., Harit, M., Stadler, Z. K., Mullighan, C., Weintraub, M., Shimamura, A., Zhang, J., Downing, J. R., Nichols, K. E., & Offit, K.
- Venue
- PLOS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2015-06-23
- Volume
- 11
- Issue
- 6
- Pages
- e1005262
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W764862773
- Cited by
- 159
- References
- 9
- FWCI
- 18.44
- Type
- journal article
- Language
- en
- Open access
- gold
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- The paper
- Topka, S., Vijai, J., Walsh, M. F., Jacobs, L., Maria, A., Villano, D., Gaddam, P., Wu, G., McGee, R. B., Quinn, E., Inaba, H., Hartford, C., Pui, C.-H., Pappo, A., Edmonson, M., Zhang, M. Y., Stepensky, P., Steinherz, P., Schrader, K., . . . Offit, K. (2015). Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLOS Genetics. https://doi.org/10.1371/journal.pgen.1005262
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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