The DOI matches its Crossref record; 177 of the 177 references it cites were found in a registry or an index.
Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease
Open accessAbstract
The orphan nuclear receptor steroidogenic factor 1 (SF-1, also called Ad4BP, encoded by the NR5A1 gene) is an essential regulator of endocrine development and function. Initially identified as a tissue-specific transcriptional regulator of cytochrome P450 steroid hydroxylases, studies of both global and tissue-specific knockout mice have demonstrated that SF-1 is required for the development of the adrenal glands, gonads, and ventromedial hypothalamus and for the proper functioning of pituitary gonadotropes. Many genes are transcriptionally regulated by SF-1, and many proteins, in turn, interact with SF-1 and modulate its activity. Whereas mice with heterozygous mutations that disrupt SF-1 function have only subtle abnormalities, humans with heterozygous SF-1 mutations can present with XY sex reversal (i.e. testicular failure), ovarian failure, and occasionally adrenal insufficiency; dysregulation of SF-1 has been linked to diseases such as endometriosis and adrenocortical carcinoma. The current state of knowledge of this important transcription factor will be reviewed with a particular emphasis on the pioneering work on SF-1 by the late Keith Parker.
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“When the gene conversion extends to the P30L missense mutation (which is usually a Group C, i.e. nonclassic allele; see section III.D), it becomes a simple virilizing (Group B) allele (180).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [180]
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1 retracted
Song, K., Park, Y., Kee, H. J., Hong, C. Y., Lee, Y., Ahn, S.-W., Kim, H.-J., Lee, K., Kook, H., Lee, I., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m505937200 · Cited by 22
RetractedLuo, X., Ikeda, Y., & Parker, K. L. (1994) · Cell · doi:10.1016/0092-8674(94)90211-9 · Cited by 1,631
Proximal events in Wnt signal transduction
Angers, S., & Moon, R. T. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2717 · Cited by 1,135
Steroidogenic factor 1: a key determinant of endocrine development and function
Parker, K. L., & Schimmer, B. P. (1997) · Endocrine Reviews · doi:10.1210/edrv.18.3.0301 · Cited by 764
Achermann, J. C., Ito, M., Ito, M., Hindmarsh, P. C., & Jameson, J. L. (1999) · Nature Genetics · doi:10.1038/9629 · Cited by 709
Lala, D. S. (1992) · Molecular Endocrinology · doi:10.1210/me.6.8.1249 · Cited by 678
Ikeda, Y., Shen, W. H., Ingraham, H. A., & Parker, K. L. (1994) · Molecular Endocrinology · doi:10.1210/mend.8.5.8058073 · Cited by 628
Barbara, P. D. S., Bonneaud, N., Boizet‐Bonhoure, B., Desclozeaux, M., Moniot, B., Südbeck, P., Scherer, G., Poulat, F., & Berta, P. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.11.6653 · Cited by 605
Wilms’ tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.
Nachtigal, M. W., Hirokawa, Y., Enyeart-VanHouten, D. L., Flanagan, J. N., Hammer, G. D., & Ingraham, H. A. (1998) · Cell · doi:10.1016/s0092-8674(00)81172-1 · Cited by 591
The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis.Preprint
Ingraham, H. A., Lala, D. S., Ikeda, Y., Luo, X., Shen, W. H., Nachtigal, M. W., Abbud-Antaki, R., Nilson, J. H., & Parker, K. L. (1994) · Genes & Development · doi:10.1101/gad.8.19.2302 · Cited by 588
Cited by
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556
Steroid hormone synthesis in mitochondria
Miller, W. L. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.04.014 · Cited by 510
Adrenocortical carcinoma: a clinician’s update
Fassnacht, M., Libé, R., Kroiss, M., & Allolio, B. (2011) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2010.235 · Cited by 396
Steroidogenic factor-1 (SF-1, NR5A1) and human disease
Ferraz‐de‐Souza, B., Lin, L., & Achermann, J. C. (2010) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2010.11.006 · Cited by 191
Metadata
- Authors
- Schimmer, B. P., & White, P. C.
- Affiliations
- University of Toronto (CA)
- ORCID
- White, Perrin C.
- Venue
- Molecular Endocrinology
- Publisher
- The Endocrine Society
- Published
- 2010-07
- Volume
- 24
- Issue
- 7
- Pages
- 1322-1337
- ISSN
- 0888-8809 (ISSN-L)
- 1944-9917
- PMC
- PMC5417463
- OpenAlex
- W2039590485
- Cited by
- 268
- References
- 176
- Citations by year
- 2026: 13 · 2025: 14 · 2024: 15 · 2023: 15 · 2022: 12 · 2021: 14 · 2020: 9 · 2019: 14 · 2018: 15 · 2017: 12 · 2016: 14 · 2015: 29 · 2014: 18 · 2013: 17 · 2012: 27
- FWCI
- 3.31
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Endocrinology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research (MOP-64325)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
- Keywords
- steroidogenic factor 1, orphan nuclear receptor, transcriptional regulation, adrenal development, gonad development, ventromedial hypothalamus, gonadotrophs, XY sex reversal, ovarian failure, adrenal insufficiency, endometriosis, adrenocortical carcinoma, heterozygous mutation
- MeSH terms
- Animals, Disease, Humans, Hypothalamus, Mutation, Pituitary Gland, Protein Binding, Mice, Knockout, Mice, Steroidogenic Factor 1
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