ArticleThe Journal of clinical endocrinology and metabolism2009
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 38 citations in OpenAlex.
- Single-nucleus and spatial transcriptome reveal adrenal homeostasis in normal and tumoural adrenal glands.Clinical and translational medicine · 2024Article
- PBX1: a TALE of two seasons-key roles during development and in cancer.Frontiers in cell and developmental biology · 2024Review
- Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases.Signal transduction and targeted therapy · 2023Review
- PBX1 attenuates HCell stress & chaperones · 2022Article
- Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.Molecular biology reports · 2019Article
- Timing of adrenal regression controlled by synergistic interaction between Sf1 SUMOylation and Dax1.Development (Cambridge, England) · 2017Article
- A genomic atlas of human adrenal and gonad development.Wellcome open research · 2017Article
- Nonspecific binding of a frequently used vitamin D receptor (VDR) antibody: important implications for vitamin D research in human health.Endocrine · 2016Article
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Best practice & research. Clinical endocrinology & metabolism · 2015Review
- Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Endocrine reviews · 2011Review
- Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal.The Journal of clinical endocrinology and metabolism · 2011Article
- ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2011Article
- Angiotensin II-regulated transcription regulatory genes in adrenal steroidogenesis.Physiological genomics · 2010Article
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
contextDisorders of adrenal development result in significant morbidity and mortality. However, the molecular basis of human adrenal development, and many forms of disease, is still poorly understood.
objectivesWe evaluated the role of two new candidate genes, CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2 (CITED2), and pre-B-cell leukemia transcription factor 1 (PBX1), in human adrenal development and disease.
designCITED2 and PBX1 expression in early human fetal adrenal development was assessed using RT-PCR and in situ hybridization. The regulation of CITED2 and PBX1 by steroidogenic factor-1 (SF-1) and dosage-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1 (DAX1) was evaluated in NCI-H295R human adrenocortical tumor cells by studying promoter regulation. Finally, mutational analysis of CITED2 and PBX1 was performed in patients with primary adrenal disorders.
resultsCITED2 and PBX1 are expressed in the human fetal adrenal gland during early development. Both genes are activated by SF-1 in a dose-dependent manner in NCI-H295R cells, and, surprisingly, PBX1 is synergistically activated by SF-1 and DAX1. Mutational analysis failed to reveal significant coding sequence changes in individuals with primary adrenal disorders.
conclusionsCITED2 and PBX1 are likely to be important mediators of adrenal development and function in humans, but mutations in these genes are not common causes of adrenal failure in patients in whom a molecular diagnosis remains unknown. The positive interaction between DAX1 and SF-1 in regulating PBX1 may be an important mechanism in this process.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.