The DOI matches its Crossref record; 63 of the 64 references it cites were found in a registry or an index.
Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin
Open accessAbstract
Reactivating the fetal globin gene: Mutation of adult-type globin genes causes sickle cell disease and thalassemia. Although treating these hemoglobinopathies with gene therapy is possible, there is a pressing need for pharmacologic approaches to treat general patient populations. One promising approach is to reactivate repressed expression of fetal-type hemoglobin (HbF) in adult erythroid cells. Masuda et al. reveal a molecular mechanism governing HbF repression as mediated by the LRF/ZBTB7A transcription factor. The study may encourage the development of new HbF reactivation therapies for hemoglobinopathies. Science , this issue p. 285
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“Its inactivation in HUDEP-2 cells led to ;50% HbF; BCL11A plus ZBTB7A knockout caused .90% HbF. 25”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [25]
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Piel, F. B., Steinberg, M. H., & Rees, D. C. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1510865 · Cited by 1,488
Piel, F. B., Steinberg, M., & Rees, D. C. (2016) · Spiral (Imperial College London) · doi:10.1056/nejmc1706325#sa6 · Cited by 662
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Self-citationMolecular basis of β thalassemia and potential therapeutic targets
Thein, S. L. (2017) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2017.06.001 · Cited by 219
“In double knockout cells, HbF comprised> 90% of total hemoglobin suggesting that the silencing pathway of LRF is independent of BCL11A [131].”
Recent Advances in the Treatment of Sickle Cell Disease
Cisneros, G. S., & Thein, S. L. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00435 · Cited by 210
“Disrupting the putative binding sites for γ-globin repressors like BCL11A to induce HbF production will be an attractive therapeutic strategy for both β-thalassemic and SCD patients (Masuda et al., 2016; Liu et al., 2018; Martyn et al., 2018).”
Background
Metadata
- Authors
- Masuda, T., Wang, X., Maeda, M., Canver, M. C., Sher, F., Funnell, A. P. W., Fisher, C., Suciu, M., Martyn, G. E., Norton, L. J., Zhu, C., Kurita, R., Nakamura, Y., Xu, J., Higgs, D. R., Crossley, M., Bauer, D. E., Orkin, S. H., Kharchenko, P. V., & Maeda, T.
- Affiliations
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Boston Children's Hospital (US)
- UNSW Sydney (AU)
- Medical Research Council, Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.
- University of Oxford (GB)
- RIKEN BioResource Research Center (JP)
- University of Tsukuba (JP)
- Corresponding author
- Kharchenko, Peter V.
- Maeda, Takahiro
- ORCID
- Venue
- Science
- Published
- 2016-01-15
- Volume
- 351
- Issue
- 6270
- Pages
- 285-289
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4778394
- OpenAlex
- W2266790363
- Semantic Scholar
- c79067255bc10df384cd93d45af5c2fd24b7b528
- Cited by
- 373
- References
- 64
- Citations by year
- 2026: 27 · 2025: 34 · 2024: 51 · 2023: 34 · 2022: 34 · 2021: 54 · 2020: 44 · 2019: 24 · 2018: 26 · 2017: 27 · 2016: 16
- FWCI
- 22.49
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (F30DK103359-01A1)
- NIDDK Career Development (K08DK093705)
- Doris Duke Charitable Foundation Innovations in Clinical Research (2013137)
- Ellison Medical Foundation (AG-NS-0965-12)
- NIH (P01HL032262, P30DK049216, 5K25AG037596, R01 AI084905, R56 DK105001)
- American Society of Hematology Bridge Program
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Hemoglobin structure and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- fetal hemoglobin, BCL11A, transcriptional repression, nucleosome density, sickle cell disease, thalassemia, hemoglobinopathies, fetal hemoglobin induction
- MeSH terms
- Anemia, Sickle Cell, Animals, Carrier Proteins, Cell Line, Chromatin, DNA-Binding Proteins, Erythroblasts, Erythropoiesis, Fetal Hemoglobin, Humans, Nuclear Proteins, Repressor Proteins, Thalassemia, Transcription Factors, Sequence Deletion, Mice, Knockout, Gene Silencing, Mice, gamma-Globins
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