Achermann JC, Meeks JJ and Jameson JL (2001). Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol. Cell. Endocrinol. 185: 17-25. http://dx.doi.org/10.1016/S0303-7207(01)00619-0 Achermann JC, Ozisik G, Ito M, Orun UA, et al. (2002). Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J. Clin. Endocrinol. Metab. 87: 1829-1833. http://dx.doi.org/10.1210/jc.87.4.1829 PMid:11932325 Atchison FW and Means AR (2003). Spermatogonial depletion in adult Pin1-deficient mice. Biol. Reprod. 69: 1989-1997. http://dx.doi.org/10.1095/biolreprod.103.020859 PMid:12930711 Balasubramanian R, Dwyer A, Seminara SB, Pitteloud N, et al. (2010). Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons. Neuroendocrinology 92: 81-99. http://dx.doi.org/10.1159/000314193 PMid:20606386 PMCid:3214927 Benayoun BA and Veitia RA (2009). A post-translational modification code for transcription factors: ...

Phosphatidylinositol 4,5-bisphosphate (PIP2) is best known as a plasma membrane-bound regulatory lipid. Although PIP2 and phosphoinositide-modifying enzymes coexist in the nucleus, their nuclear roles remain unclear. We showed that inositol polyphosphate multikinase (IPMK), which functions both as an inositol kinase and as a phosphoinositide 3-kinase (PI3K), interacts with the nuclear receptor steroidogenic factor 1 (SF-1) and phosphorylates its bound ligand, PIP2. In vitro studies showed that PIP2 was not phosphorylated by IPMK if PIP2 was displaced or blocked from binding to the large hydrophobic pocket of SF-1 and that the ability to phosphorylate PIP2 bound to SF-1 was specific to IPMK and did not occur with type 1 p110 PI3Ks. IPMK-generated SF-1-PIP3 (phosphatidylinositol 3,4,5-trisphosphate) was dephosphorylated by the lipid phosphatase PTEN. Consistent with the in vitro activities of IPMK and PTEN on SF-1-PIPn, SF-1 transcriptional activity was reduced by silencing IPMK or overexpressing ...

Nachtigal M.W., Hirokawa Y., Enyeart-VanHouten D.L., Flanagan J.N., Hammer G.D., Ingraham H.A.. Products of steroidogenic factor 1 (SF-1) and Wilms tumor 1 (WT1) genes are essential for mammalian gonadogenesis prior to sexual differentiation. In males, SF-1 participates in sexual development by regulating expression of the polypeptide hormone Müllerian inhibiting substance (MIS). Here, we show that WT1 -KTS isoforms associate and synergize with SF-1 to promote MIS expression. In contrast, WT1 missense mutations, associated with male pseudohermaphroditism in Denys-Drash syndrome, fail to synergize with SF-1. Additionally, the X-linked, candidate dosage-sensitive sex-reversal gene, Dax-1, antagonizes synergy between SF-1 and WT1, most likely through a direct interaction with SF-1. We propose that WT1 and Dax-1 functionally oppose each other in testis development by modulating SF-1-mediated transactivation.. Cell 93:445-454(1998) [PubMed] [Europe PMC] ...

TY - JOUR AU - Jakovljević, Katarina AU - Joksovic, Milan D. AU - Matić, Ivana Z. AU - Petrovic, Nina AU - Stanojković, Tatjana AU - Sladić, Dušan AU - Vujčić, Miroslava AU - Janović, Barbara AU - Joksovic, Ljubinka AU - Trifunović, Snežana AU - Markovic, Violeta PY - 2018 UR - http://cer.ihtm.bg.ac.rs/handle/123456789/2379 AB - Hybrid compounds that combine the 1,3,4-thiadiazole-containing catechol moiety with a chalcone motif were synthesized and examined for their antioxidant activity, cytotoxicity, and DNA-binding activity. A series of thirteen compounds showed strong antioxidant and cytotoxic effects on human acute promyelocytic leukemia HL-60 cells. Several compounds exerted good cytotoxic activities on cervical adenocarcinoma HeLa cells. The treatment of HeLa cells with IC50 and double IC50 concentrations of the compounds 5a, 5c, 5f, and 5m induced a statistically significant increase in the percentage of cells within a subG1 cell cycle phase. The examined compounds caused G2/M ...

As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).. Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the ligand-binding domain (LBD).. Method: In order to evaluate the impact of those mutations at the protein function, normal and mutated SF-1 were expressed in HeLa cells and the expression efficiency was monitored using Western blot. Their transactivation abilities were tested in vitro using AMH and STAR promoter containing luciferase reporter genes and electrophoretic mobility shift assays (EMSA).. Results: Luciferase reporter gene expression was reduced for both p.C247* and p.K396Rfs*34 when tested with either promoters. Whereas the transactivation ...

TY - JOUR. T1 - Nutritional conditions regulate transcriptional activity of SF-1 by controlling sumoylation and ubiquitination. AU - Lee, Jiwon. AU - Yang, Dong Joo. AU - Lee, Syann. AU - Hammer, Gary D.. AU - Kim, Ki Woo. AU - Elmquist, Joel K.. PY - 2016/1/11. Y1 - 2016/1/11. N2 - Steroidogenic factor 1 (SF-1) is a transcription factor expressed in the ventral medial nucleus of the hypothalamus that regulates energy homeostasis. However, the molecular mechanisms of SF-1 in the control of energy balance are largely unknown. Here, we show that nutritional conditions, such as the presence or absence of serum, affect SF-1 action. Serum starvation significantly decreased hypothalamic SF-1 levels by promoting ubiquitin-dependent degradation, and sumoylation was required for this process. SF-1 transcriptional activity was also differentially regulated by nutritional status. Under normal conditions, the transcriptional activity of hypothalamic SF-1 was activated by SUMO, but this was attenuated during ...

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008 ...

Transcription factor that recognizes and binds to the enhancer heptamer motif 5-TGA[CG]TCA-3. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation ...

The group conducted several studies, which received funding from the University of Wisconsin-Madison Graduate School and a training grant from the National Institutes of Health. In one study, the researchers used a human cell line of an aggressive prostate cancer model. Cells with knockdown, or repression, of Steroidogenic Factor 1 expression exhibited decreased steroid production and had problems with cell growth, compared with cancerous prostate cells with normal levels of the factor, the authors reported. When the investigators forced the expression of Steroidogenic Factor 1 in benign prostate cells, the result was increased steroid production and cell growth, she said ...

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Anti-Müllerian hormone (AMH), also known as Müllerian-inhibiting hormone (MIH), is a glycoprotein hormone structurally related to inhibin and activin from the transforming growth factor beta superfamily, whose key roles are in growth differentiation and folliculogenesis. In humans, the gene for AMH is AMH, on chromosome 19p13.3, while the gene AMHR2 codes for its receptor on chromosome 12. AMH is activated by SOX9 in the Sertoli cells of the male fetus. Its expression inhibits the development of the female reproductive tract, or Müllerian ducts (paramesonephric ducts), in the male embryo, thereby arresting the development of fallopian tubes, uterus, and upper vagina. AMH expression is critical to sex differentiation at a specific time during fetal development, and appears to be tightly regulated by nuclear receptor SF-1, transcription GATA factors, sex-reversal gene DAX1, and follicle-stimulating hormone (FSH). Mutations in both the AMH gene and the type II AMH receptor have been shown to ...

Liver receptor homolog-1 (LRH-1; NR5A2) is a member of the NR5A subfamily of nuclear receptors (NRs) for which there are two members (Fayard et al., 2004). LRH-1 and steroidogenic factor-1 (SF-1; NR5A1) both bind to identical DNA consensus sequences (response elements) in promoter regions of their target genes and both bind DNA as monomers (Krylova et al., 2005; Li et al., 2005; Solomon et al., 2005). LRH-1 and SF-1 are differentially expressed in tissues and thus are likely to have nonoverlapping, nonredundant functions. Whereas SF-1 is confined to steroidogenic tissues where it plays a critical role in the regulation of development, differentiation, steroidogenesis, and sexual determination (Broadus et al., 1999; Lavorgna et al., 1991; Luo et al., 1994), LRH-1 is highly expressed in tissues of endodermal origin and is essential for normal intestinal and pancreatic function. In the liver, LRH-1 regulates cholesterol metabolism and bile acid homeostasis (Francis et al., 2003). Most NRs require ...

The {{Embryology}} template term {{adrenal}} links directly to the [[Endocrine - Adrenal Development,Adrenal Development]] page ...

TY - JOUR. T1 - The orphan nuclear receptor, liver receptor homolog-1, regulates cholesterol side-chain cleavage cytochrome P450 enzyme in human granulosa cells. AU - Kim, Joung W.. AU - Havelock, Jon C.. AU - Carr, Bruce R.. AU - Attia, George R.. PY - 2005/3/1. Y1 - 2005/3/1. N2 - After ovulation, there is a shift in ovarian steroidogenesis from an estrogen-producing ovarian follicle to a progesterone-producing corpus luteum. The first step in human ovarian steroidogenesis is catalyzed by cholesterol side-chain cleavage cytochrome P450 (CYP11A1) enzyme. Steroidogenic factor-1 is an orphan nuclear receptor that regulates several steroidogenic enzymes, including CYP11A1. Liver receptor homolog-1 (LRH-1) is another orphan nuclear receptor that is expressed in the human ovary. After ovulation there is a down-regulation in steroidogenic factor-1, which is associated with an up-regulation of LRH-1 expression. These changes coincide with increased level of CYP11A1 expression in human corpus luteum. ...

Expression of progesterone receptor, estrogen receptors α and β, and kisspeptin in the hypothalamus during perinatal development of gonad-lacking steroidogenic factor-1 knockout mice[5] Gonadal hormones contribute to brain sexual differentiation. We analyzed expression of progesterone receptor (PR), estrogen receptor-α (ERα), ERβ, and kisspeptin, in the preoptic area (POA) and/or the arcuate nucleus (ARC), in gonad-lacking steroidogenic factor-1 knockout (KO) mice during perinatal development. At postnatal-day (P) 0-P7, POA PR levels were higher in wild-type (WT) males compared with WT females, while those in KO males were lower than in WT males and similar to those in WT and KO females. At P14-P21, PR levels in all groups increased similarly. POA ERα levels were similar in all groups at embryonic-day (E) E15.5-P14. Those in WT but not KO males reduced during postnatal development to be significantly lower compared with females at P21. POA ERβ levels were higher in WT males than in WT ...

Cloning, Expression and Hormonal Regulation of Steroidogenic Acute Regulatory Protein Gene in Buffalo Ovary - StAR Gene;StAR mRNA;Semi-quantitative RT-PCR;Granulosa Cells;Ovary;Buffalo;

CXorf66 also known as Chromosome X Open Reading Frame 66, is a 361aa protein in humans that is encoded by the CXorf66 gene. The protein encoded is predicted to be a type 1 transmembrane protein; however, its exact function is currently unknown. CXorf66 has one alias: RP11-35F15.2. There is a patent for CXorf66 under the file US 8586006 by the Institute for Systems Biology and Integrated Diagnostics, Inc. CXorf66 protein is a potential novel cancer biomarker. CXorf66 is located on Chromosome X at Xq27.1 and is on the complement strand. The CXorf66 gene is located between ATP11C ATPase, MIR505, and HNRNPA3P3. In addition to this, according to OMIM, CXorf66 is positioned between SOX3, SPANXB1, and CDR1. CXorf66 only consists of one known splice variant with three exons (1-117, 118-271, and 272-1288bp) and two introns. Locations of junctions occur at 30aa [G] and 81aa [M]. CXorf66 has only been found to have only one polyadenylation site. With 57 serines and 42 lysines, the CXorf66 protein is both ...

The main limitation of studying this cancer type is the limited access to human samples, together with the lack of representative cell lines, and the absence of a reliable small animal model of disease. This has significantly challenged the study of this neoplasm for a long time. Additionally, it is difficult to successfully culture the ACC primary tumour cells for periods enough to carry out truly mechanistic studies in the lab. However, with new advances in tissue engineering techniques and biomaterials, we intend to reproduce an ACC tumour by culturing in 3D using collagen-I biomaterial and co-culturing with macrophages. Also, previous research within this field has informed us of several mutated genes such as Steroidogenic factor 1 or SF1. SF-1 is a nuclear receptor that belongs to the NR5A of orphan receptors which binds nuclear DNA. It is involved in adrenal and gonadal development, sexual determination, reproduction, and steroidogenesis. However, several other genes are mutated, and more ...

The effect of this cold water swim test was different for lesion and control animals. The levels of estrogen and progesterone are markedly increased in pregnancy and could therefore exert a greater effect on the endothelium of the pyogenic granuloma. Neurenteric or enterogenous cysts are rare, congenital, benign lesions of the central nervous system. Spanish-speaking Mexican-American parents of schizophrenics completed the TAT in their native language, and CD was coded from their stories by a Spanish-speaking rater. NEP/CD10 immunoreactivity was found in 6 of 24 pancreatic ductal levofloxacin adenocarcinomas, but also in 3 of 6 tissues of patients with chronic pancreatitis. The report describes the lethal exitus of a 44-year-old woman after repeated criminal poisoning with N-nitrosodimethylamine. This has led to increasing numbers of people with chronic prevalent, treated infection living to older ages. Steroidogenic factor 1 (SF-1) is an orphan nuclear receptor that plays key roles in endocrine ...

Purified Recombinant Human CXorf49B Protein, Myc/DDK-tagged, C13 and N15-labeled from Creative Biomart. Recombinant Human CXorf49B Protein, Myc/DDK-tagged, C13 and N15-labeled can be used for research.

The research in the Schlinger lab focuses on two questions: 1) How are steroids made available in active forms to distinct neural circuits at appropriate periods of the animals life? 2) How have some neural circuits, but not others, become sensitive to control by steroidal signalling molecules? Experimental Approaches: We study birds in the lab and in the field to explore these questions, examining species that have evolved unique behavioral strategies to optimize their reproductive potential. Techniques regularly used by members of the laboratory include: biochemical assays of steroidogenic enzyme activity, steroidogenic enzyme mRNA expression via Northern blots, rtPCR/Southern blots, in situ hybridization, protein expression via immunocytochemistry, Western blots, neuroanatomical measures via light and fluorescence microscopy and image analysis, and steroid-autoradiography. Please click on the links to learn more about our lab! ...

The adrenal cortex is of mesodermal origin and derives from a single cell lineage characterized by expression of certain transcription factors such as steroidogenic factor-1 (SF-1). At 2 months gestation, the cortex, already identifiable as a separate organ, is composed of a fetal zone and a definitive zone similar to the adult adrenal cortex. The adrenal cortex then increases rapidly in size; at mid gestation, it is considerably larger than the kidney and much larger than the adult gland in relation to total body mass. The fetal zone makes up the bulk of the weight of the adrenal cortex at this time. Several genes encoding transcription factors are important in adrenal development and differentiation. These include SF-1 and the product of the dosage-sensitive sex reversal-adrenal hypoplasia gene (DAX1), among others; mutations of the DAX1 gene are associated with congenital adrenal hypoplasia. ...

Steroidogenic factor 1 (SF-1) can be an orphan nuclear receptor selectively portrayed in the adrenal cortex and gonads, where it mediates the hormonal stimulation of multiple genes involved with steroid hormone biosynthesis. promoter shows that blockade of SF-1 SUMOylation prospects to a rise in general promoter occupancy but will not alter the oscillatory recruitment dynamics in response to ACTH. Notably, we discover that CDK7 binds preferentially towards the SUMOylation-deficient type of SF-1 which CDK7 inhibition decreases phosphorylation of SF-1. Predicated on these observations, we propose a coordinated changes model where inhibition of SF-1-mediated transcription by SUMOylation in adrenocortical malignancy cells is usually mediated through decreased CDK7-induced phosphorylation of SF-1. Steroidogenic element 1 (SF-1) (also known as NR5A1 or Advertisement4BP) can be an orphan nuclear receptor that performs a crucial part in the rules of steroid hormone biosynthesis, aswell as with the ...

TY - JOUR. T1 - The roles of circulating high-density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein. AU - Ishii, Tomohiro. AU - Hasegawa, Tomonobu. AU - Pai, Chin I.. AU - Yvgi-Ohana, Natalie. AU - Timberg, Rina. AU - Zhao, Liping. AU - Majdic, Gregor. AU - Chung, Bon Chu. AU - Orly, Joseph. AU - Parker, Keith L.. N1 - Copyright: Copyright 2008 Elsevier B.V., All rights reserved.. PY - 2002/10/1. Y1 - 2002/10/1. N2 - The steroidogenic acute regulatory protein (StAR) is essential for the regulated production of steroid hormones, mediating the translocation of intracellular cholesterol to the inner mitochondrial membrane where steroidogenesis begins. Steroidogenic cells lacking StAR have impaired steroidogenesis and progressively accumulate lipid, ultimately causing cytopathic changes and deterioration of steroidogenic capacity. Developmental studies of StAR knockout (KO) mice have correlated gonadal lipid deposits with ...

SOX9 | Colorectal Cancer Atlas| Colon Atlas | Colorectal Cancer Database | Colorectal Cancer | Proteogenomics |Proteomics | The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]

TY - JOUR. T1 - Structural and functional abnormalities in the spleen of an mFtz-F1 gene-disrupted mouse. AU - Morohashi, Ken ichirou. AU - Tsuboi-Asai, Hisae. AU - Matsushita, Sumie. AU - Suda, Masahiro. AU - Nakashima, Manabu. AU - Sasano, Hironobu. AU - Hataba, Yoshiaki. AU - Li, Chun Li. AU - Fukata, Junichi. AU - Irie, Junji. AU - Watanabe, Takeshi. AU - Nagura, Hiroshi. AU - Li, En. PY - 1999/3/1. Y1 - 1999/3/1. N2 - The spleen has two main functions. The first is to provide a proper microenvironment to lymphoid and myeloid cells, whereas the second involves clearance of abnormal erythrocytes. Ad4BP/SF-1, a product of the mammalian FTZ-F1 gene (mFTZ-F1), was originally identified as a steroidogenic, tissue- specific transcription factor. Immunohistochemical examination of the mammalian spleens confirmed the expression of Ad4BP/SF-1 in endothelial cells of the splenic venous sinuses and pulp vein. In mFtz-F1 gene-disrupted (KO) mice, several structural abnormalities were detected in the ...

The focus on the refinement, reduction and replacement of animal use in toxicity testing requires the development of cell-based systems that mimic the effects of xenobiotics in human tissues. The human adrenocortical carcinoma cell line, H295R, has been

The liver receptor homolog-1 (LRH-1) also known as NR5A2 (nuclear receptor subfamily 5, group A, member 2) is a protein that in humans is encoded by the NR5A2 gene.[1][2] LRH-1 is a member of the nuclear receptor family of intracellular transcription factors. LRH-1 plays a critical role in the regulation of development, cholesterol transport, bile acid homeostasis and steroidogenesis.[3][4][5] LRH-1 is important for maintaining pluripotence of stem cells during embryonic development.[6] ...

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...

Expression of MAMLD1 (CG1, CXorf6, F18) in human tissue. Overview of the antibody staining with HPA003923 in immunohistochemistry

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Polycistronic expression of mitochondrial steroidogenic p450scc system in the hek293t cell line / V. Efimova, L. Isaeva, A. Labudina et al. // Journal of Cellular Biochemistry. - 2019. - Vol. 120, no. 3. - P. 3124-3136. Abstract The cholesterol hydroxylase/lyase (CHL) system, which consists of cytochrome P450scc, adrenodoxin (Adx) and adrenodoxin reductase (AdR), initiates mammalian steroidogenesis, converting cholesterol to pregnenolone. The FMDV 2A-based method allows for the expression of multiple proteins from a single transcript. We developed a 2A-based multicistronic system for the co-expression of three bovine CHL system proteins as the self-processing polyprotein pCoxIV-P450scc-2A-Adx-2A-AdR-GFP (pCoxIV-CHL-GFP), with a cleavable N-terminal mitochondrial targeting presequence. HEK293-T cells transfected with plasmid, containing cDNA for pCoxIV-CHL-GFP, efficiently performed the expression of P450scc-2A, which was localized in mitochondria, and Adx-2A, AdR-GFP and the fusion protein ...

Fingerprint Dive into the research topics of Evidence for gonadotrophin secretory and steroidogenic abnormalities in brothers of women with polycystic ovary syndrome. Together they form a unique fingerprint. ...

Blog on CXorf58 elisa kit product: The Human CXorf58 cxorf58 (Catalog #MBS9319761) is an ELISA Kit and is intended for research purposes onl...

Rabbit polyclonal antibody raised against recombinant CXorf57. Recombinant protein corresponding to amino acids of human CXorf57. (PAB20014) - Products - Abnova

Expression of CXorf58 (FLJ25444) in cerebral cortex tissue. Antibody staining with HPA031542, HPA031543 and HPA031544 in immunohistochemistry.

Complete information for MAMLD1 gene (Protein Coding), Mastermind Like Domain Containing 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

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Testis differentiation in zebrafish involves juvenile ovary to testis transformation initiated by an apoptotic wave. The molecular regulation of this transformation process is not fully understood. NF-κB is activated at an early stage of development and has been shown to interact with steroidogenic factor-1 (Sf-1) in mammals, leading to the suppression of anti-Mullerian hormone (Amh) gene expression. Since Sf-1 and Amh are important for proper testis development, NF-κB-mediated induction of anti-apoptotic genes could therefore also play a role in zebrafish gonad differentiation. The aim of the present study was to examine the potential role of NF-κB in zebrafish gonad differentiation. Exposure of juvenile zebrafish to heat-killed E. coli activated the NF-κB pathways and resulted in an increased ratio of females. Microarray and qRT-PCR analysis of gonads showed elevated expression of NF-κB-regulated genes. To confirm the involvement of NF-κB-induced anti-apoptotic effects, zebrafish were ...

C elegans nuclear hormone receptor NHR-25: an ortholog of the Drosophila nuclear hormone receptor FTZ-F1; is required for epidermal and somatic gonad development.; Dev. Biol. 221:259-272(2000).

Mouse monoclonal antibody raised against a partial recombinant MAMLD1. MAMLD1 (NP_005482, 603 a.a. ~ 701 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. (H00010046-M01) - Products - Abnova

Complete information for CXorf21 gene (Protein Coding), Chromosome X Open Reading Frame 21, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

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TY - JOUR. T1 - Congenital Lipoid Adrenal Hyperplasia Caused by a Novel Splicing Mutation in the Gene for the Steroidogenic Acute Regulatory Protein. AU - GONZALEZ PARRA, ALEXIS ANTONIO. AU - Reyes, M. Loreto. AU - Carvajal, Cristian A.. AU - Tobar, Jaime A.. AU - Mosso, Lorena M.. AU - Baquedano, Paulina. AU - Solar, Antonieta. AU - Venegas, Alejandro. AU - Fardella, Carlos E.. PY - 2004/2/1. Y1 - 2004/2/1. N2 - Steroidogenic acute regulatory protein (StAR) plays a crucial role in the transport of cholesterol from the cytoplasm to the inner mitochondrial membrane, facilitating its conversion to pregnenolone by cytochrome P450scc. Its essential role in steroidogenesis was demonstrated after observing that StAR gene mutations gave rise to a potentially lethal disease named congenital lipoid adrenal hyperplasia, in which virtually no steroids are produced. We report here a 2-month-old female patient, karyotype 46XY, who presented with growth failure, convulsions, dehydration, hypoglycemia, ...

Another area of interest is the role of GATA factors in the regulation of steroidogenic cell differentiation. Our experimental system takes advantage of the observation that GATA-4 normally is expressed in gonadal but not adrenocortical steroidogenic cells of the adult mouse. Interestingly, certain inbred strains of mice develop sex steroid-producing adrenocortical neoplasms in response to prepubertal gonadectomy. This phenomenon is thought to reflect metaplasia of competent cells in the adrenal gland, which transform into gonadal-like stroma in response to changes in the hormonal milieu, and increased expression of GATA4 is a hallmark of this transformation. To examine the signaling pathways involved in this form of tissue-type switching, we have created new inbred and transgenic models of adrenocortical neoplasia .. ...

As promised, I am editing this, as I not only just spoke with Bill at California Gold Nutrition, but also tried this product for a few days after reading the links provided by CGN in response to another apprehensive reviewer. On those links, I learned that the end product is purified to remove all traces of corn. I guess its like when omega 3 companies purify fish oils to remove all traces of PCBs and mercury. We no longer live in a pollution-free world but thanks to caring companies like these we can again reap the benefits of pristine supplements to better our health. From my conversation, I learned that CGN is very passionate about health and a strict no GMO policy. And they really care about health and their customers. As for my experience trying this Quali-C: I have adrenal failure and C is critical for them to function normally; since I also have scurvy, I took 5, maybe 6 pills per day. Right away, I felt more balanced, more calm, better. After 3 days I noticed that my extreme dry skin ...

TY - JOUR. T1 - FTF and LRH-1, two related but different transcription factors in human Caco-2 cells. T2 - Their different roles in the regulation of bile acid transport. AU - Pan, Debra H.. AU - Chen, Frank. AU - Neimark, Ezequiel. AU - Li, Xiaoping. AU - Shneider, Benjamin L.. PY - 2005/12/30. Y1 - 2005/12/30. N2 - The apical sodium dependent bile acid transporter (ASBT) mediates ileal bile acid reabsorption. The transcription factors, liver receptor homologue-1 (LRH-1:mouse) and fetoprotein transcription factor (FTF:human), are presumably orthologues. Bile-acid induced negative feedback regulation of mouse (m) and human (h) ASBT occurs via LRH-1 and RAR/RXR, respectively. hASBT has a potential FTF cis-element, although its functional role is unknown. hASBT and mASBT promoter constructs and an FTF cis-element mutated hASBT (hASBT/FTFμ) were assessed in human Caco-2 cells treated with chenodeoxycholic acid (CDCA) and/or co-transfected with hFTF, mLRH-1, or specific small interfering FTF or ...

Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia ...

Unfortunately, while HCG increases Testosterone, it increases estrogen as well(12). As you probably know, estrogen acts directly on the Leydig cells to effect changes in the activities of enzymes important for testosterone synthesis (13) and may actually be considered an important part of that negative feedback loop I mentioned earlier. In addition, an increase in circulating levels of LH have been shown to induce down-regulation of LH-receptors in both rodent studies (14), as well as in human studies (15); since HCG mimics LH, you can expect it to do the same. This LH downregulation can cause an increase in steroidogenic cholesterol (the cholesterol earmarked by your body for conversion into testosterone). (16). Thus, after the initial HCG induced surge in testosterone is over, if you have used enough to downregulate your LH-receptors and increase estrogen too much, then more steroidogenic cholesterol is available. This is telling me that less is being converted to testosterone. In fact, rodent ...