The DOI matches its Crossref record; 132 of the 132 references it cites were found in a registry or an index.
The versatile functions of Sox9 in development, stem cells, and human diseases
Open accessAbstract
The transcription factor Sox9 was first discovered in patients with campomelic dysplasia, a haploinsufficiency disorder with skeletal deformities caused by dysregulation of Sox9 expression during chondrogenesis. Since then, its role as a cell fate determiner during embryonic development has been well characterized; Sox9 expression differentiates cells derived from all three germ layers into a large variety of specialized tissues and organs. However, recent data has shown that ectoderm- and endoderm-derived tissues continue to express Sox9 in mature organs and stem cell pools, suggesting its role in cell maintenance and specification during adult life. The versatility of Sox9 may be explained by a combination of post-transcriptional modifications, binding partners, and the tissue type in which it is expressed. Considering its importance during both development and adult life, it follows that dysregulation of Sox9 has been implicated in various congenital and acquired diseases, including fibrosis and cancer. This review provides a summary of the various roles of Sox9 in cell fate specification, stem cell biology, and related human diseases. Ultimately, understanding the mechanisms that regulate Sox9 will be crucial for developing effective therapies to treat disease caused by stem cell dysregulation or even reverse organ damage.
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Cites
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Liao, J., Wei, Q., Zou, Y., Fan, J., Song, D., Cui, J., Zhang, W., Zhu, Y., Ma, C., Hu, X., et al. (2017) · Cellular Physiology and Biochemistry · doi:10.1159/000471945 · Cited by 2,742
Self-citationFrom cohorts to molecules: adverse impacts of endocrine disrupting mixtures
Caporale, N., Leemans, M., Birgersson, L., Germain, P.-L., Cheroni, C., Borbély, G., Engdahl, E., Lindh, C., Bressan, R. B., Cavallo, F., et al. (2022) · Science · doi:10.1126/science.abe8244 · Cited by 368
Sex reversal following deletion of a single distal enhancer of Sox9
Gonen, N., Futtner, C. R., Wood, S., Garcia-Moreno, S. A., Salamone, I. M., Samson, S. C., Sekido, R., Poulat, F., Maatouk, D. M., & Lovell-Badge, R. (2018) · Science · doi:10.1126/science.aas9408 · Cited by 235
Precise modulation of transcription factor levels identifies features underlying dosage sensitivity
Naqvi, S., Kim, S., Hoskens, H., Matthews, H. S., Spritz, R. A., Klein, O. D., Hallgrímsson, B., Swigut, T., Claes, P., Pritchard, J. K., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01366-2 · Cited by 132
SOX9 stem-cell factor: clinical and functional relevance in cancer
Aguilar-Medina, M., Avendaño-Félix, M., Lizárraga-Verdugo, E., Bermúdez, M., Romero-Quintana, J. G., Ramos-Payan, R., Ruíz-García, E., & López-Camarillo, C. (2019) · Journal of Oncology · doi:10.1155/2019/6754040 · Cited by 97
Metadata
- Authors
- Jo, A., Denduluri, S., Zhang, B., Wang, Z., Yin, L., Yan, Z., Kang, R., Shi, L. L., Mok, J., Lee, M. J., & Haydon, R. C.
- Venue
- Genes & Diseases
- Publisher
- Elsevier BV
- Published
- 2014-12
- Volume
- 1
- Issue
- 2
- Pages
- 149-161
- ISSN
- 2352-3042 (ISSN-L)
- OpenAlex
- W2056840798
- Cited by
- 366
- References
- 132
- FWCI
- 5.72
- Type
- journal article
- Language
- en
- Open access
- gold
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- Jo, A., Denduluri, S., Zhang, B., Wang, Z., Yin, L., Yan, Z., Kang, R., Shi, L. L., Mok, J., Lee, M. J., & Haydon, R. C. (2014). The versatile functions of Sox9 in development, stem cells, and human diseases. Genes & Diseases. https://doi.org/10.1016/j.gendis.2014.09.004
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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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