ArticleProceedings of the National Academy of Sciences of the United States of America2000
Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 183 citations in OpenAlex.
- Nonlinearities and Switch-Like Behavior in Gene Expression: From Genetics to Biochemistry and Back.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
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- Potential endogenous lipid ligands for the nuclear receptor transcription factor Steroidogenic Factor-1.Advances in biological regulation · 2026Review
- Adrenocortical stem cells in health and disease.Nature reviews. Endocrinology · 2025Review
- NEDD4 Promotes Sertoli Cell Proliferation and Adult Leydig Cell Differentiation in the Murine Testis.Endocrinology · 2025Article
- Development and characterization of an Sf-1-Flp mouse model.JCI insight · 2025Article
- Development and Characterization of abioRxiv : the preprint server for biology · 2025Article
- Article
- Steroidogenic Factor-1 form and function: From phospholipids to physiology.Advances in biological regulation · 2024Review
- Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.EBioMedicine · 2024Article
- Preclinical Models of Adrenocortical Cancer.Cancers · 2023Review
- Steroidogenic Factor 1, a Goldilocks Transcription Factor from Adrenocortical Organogenesis to Malignancy.International journal of molecular sciences · 2023Review
- Development and function of the fetal adrenal.Reviews in endocrine & metabolic disorders · 2023Review
- Reconstitution of human adrenocortical specification and steroidogenesis using induced pluripotent stem cells.Developmental cell · 2022Article
- Transgenic Mouse Models to Study the Development and Maintenance of the Adrenal Cortex.International journal of molecular sciences · 2022Review
- Coordination of Multiple Cellular Processes by NR5A1/Nr5a1.Endocrinology and metabolism (Seoul, Korea) · 2020Review
- Article
- The nuclear phosphoinositide response to stress.Cell cycle (Georgetown, Tex.) · 2020Review
- Phenotype and Molecular Characterizations of 30 Children From China WithFrontiers in pharmacology · 2018Article
- Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.The Journal of clinical investigation · 2017Article
6 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Adrenal steroids are essential for homeostasis and survival during severe physiological stress. Analysis of a patient heterozygous for the steroidogenic factor-1 (SF-1) gene suggested that reduced expression of this nuclear receptor leads to adrenal failure. We therefore examined SF-1 heterozygous (+/-) mice as a potential model for delineating mechanisms underlying this disease. Here we show that SF-1 +/- mice exhibit adrenal insufficiency resulting from profound defects in adrenal development and organization. However, compensatory mechanisms, such as cellular hypertrophy and increased expression of the rate-limiting steroidogenic protein StAR, help to maintain adrenal function at near normal capacity under basal conditions. In contrast, adrenal deficits in SF-1 heterozygotes are revealed under stressful conditions, demonstrating that normal gene dosage of SF-1 is required for mounting an adequate stress response. Our findings predict that natural variations leading to reduced SF-1 function may underlie some forms of subclinical adrenal insufficiency, which become life threatening during traumatic stress.
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