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Cow (Bovine) Polyclonal NR5A1 Primary Antibody für IHC, WB - ABIN2782282
Derebecka-Holysz, Lehmann, Holysz, Trzeciak: SMAD3 inhibits SF-1-dependent activation of the CYP17 promoter in H295R cells. in Molecular and cellular biochemistry 2007
Results identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients with 46,XX (ovo)testicular disorders of sex development (DSD (zeige FADS1 Antikörper)). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1 (zeige MAMLD1 Antikörper), a direct NR5A1 target previously associated with 46,XY DSD (zeige FADS1 Antikörper). This study proposes NR5A1 as a novel gene for 46,XX (ovo)testicular DSD (zeige FADS1 Antikörper).
The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females.
Manipulating steroidogenic factor-1 (SF-1) and nucleotide exchange factor VAV-2 (VAV2 (zeige VAV2 Antikörper)) abundance in cultured adrenocortical carcinoma (ACC (zeige ACACA Antikörper)) cells indicate that VAV2 (zeige VAV2 Antikörper) was a critical factor for SF-1-induced cytoskeletal remodeling and invasion in culture and in vivo (chicken chorioallantoic membrane) models.
Ten novel heterozygous NR5A1 mutations were identified in 46,XY DSD (zeige FADS1 Antikörper) patients, including five nonsynonymous variants (p.Gly26Glu, p.Thr29Arg, p.Trp302Cys, p.Ala340Val, p.Leu358Pro), four stop-gain variants (p.Tyr211*, p.Cys247*, p.Tyr404*, p.Cys412*), and one frameshift variant (p.Glu395del)
we show that a specific recurrent heterozygous missense mutation (p.Arg92Trp) in the accessory DNA-binding region of NR5A1 is associated with variable degree of testis development in 46,XX children and adults from four unrelated families
we review genetic data generated through large-scale sequencing approaches that are changing our view of how this system works, including the recently described recurrent NR5A1 p.R92W mutation associated with testis development in 46,XX children
The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY Disorder of Sex Development, most likely contributes to the ovotesticular Disorder of Sex Development in this case.
Data suggest that the first screening step diagnosis for pituitary adenoma was determined based upon immunohistochemical (IHC) scores for Pit-1 (zeige POU1F1 Antikörper), SF-1, and ACTH (zeige POMC Antikörper).
We analysed a Pakistani cohort of patients with 46,XY disorders of sex development (DSD (zeige FADS1 Antikörper)), presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD (zeige FADS1 Antikörper).
demonstrate aberrant expressions of SF-1 and LRH-1 (zeige NR5A2 Antikörper) in endometriotic granulosa-lutein cells
Collectively, this evidence suggests that SF-1 (zeige SF1 Antikörper) expression in ventromedial hypothalamic nucleus neurons is required for the beneficial effects of exercise on metabolism.
Data suggest that Ad4BP plays role in regulation of intracellular NADPH (zeige FDXR Antikörper) concentration via transcription of Me1 (zeige ME1 Antikörper) and Mthfd2 (zeige MTHFD2 Antikörper) genes in adrenocortical cells. (Ad4BP = nuclear receptor subfamily 5 group A member 1; Me1 (zeige ME1 Antikörper) = malic enzyme 1 (zeige ME1 Antikörper); Mthfd2 (zeige MTHFD2 Antikörper) = bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase)
WT1 (zeige WT1 Antikörper) is required for the lineage specification of both Sertoli and granulosa cells by repressing Sf1 (zeige SF1 Antikörper) expression. Without Wt1 (zeige WT1 Antikörper), the expression of Sf1 (zeige SF1 Antikörper) was upregulated and the somatic cells differentiated into steroidogenic cells instead of supporting cells.
Our data suggested that lipid accumulation in the Leydig cells of the 46,XY disorders of sex development phenotype with a steroidogenic factor 1 mutation is due, at least in part, to the suppression of steroidogenic acute regulatory protein (zeige STAR Antikörper) and CYP11A1 (zeige CYP11A1 Antikörper), and a resulting increase in unmetabolized cholesterol.
SF-1 (zeige SF1 Antikörper) is needed for proper development of fetal and adult Leydig cells but with distinct primary functions
NR5A1 prevents centriole splitting by inhibiting centrosomal DNA-PK activation and beta-catenin (zeige CTNNB1 Antikörper) accumulation
The results suggest that gonadal steroids do not influence the production of neurosteroids in the fetal brain, nor does SF-1 (zeige SF1 Antikörper) play a major role in the regulation of steroidogenic enzyme expression in the brain.
MiR (zeige MLXIP Antikörper)-383 promoted the expression of miR (zeige MLXIP Antikörper)-320 which regulated granulosa cell functions by targeting E2F1 (zeige E2F1 Antikörper) and SF-1 (zeige SF1 Antikörper) proteins.
Data indicate that genetic ablation of the Vanin-1 (Vnn1 (zeige VNN1 Antikörper)) gene in SF-1 (NR5A1) transgenic mice significantly reduced the severity of neoplastic lesions in the adrenal cortex.
FOXL2 (zeige FOXL2 Antikörper) negatively regulates Sf1 (zeige SF1 Antikörper) expression by antagonizing WT1 (zeige WT1 Antikörper)-KTS during early ovarian development in mice
chemical inhibition of Nr5a2 function during hepatopancreas progenitor specification was sufficient to disrupt exocrine pancreas formation and enhance the size of the embryonic liver, suggesting that Nr5a2 regulates hepatic vs. pancreatic progenitor fate choice.
ff1a functions in both slow and fast muscle morphogenesis in response to Hedgehog (zeige SHH Antikörper) signaling, and this function parallels the activity of another slow muscle gene, prox1 (zeige PROX1 Antikörper)
The role of Sox9a in ff1a gene regulation and function was studied using sox9a morpholinos.
These results indicate that PCBs impair the secretory function of ovarian steroidogenic cells by disrupting steroidogenesis and increasing OT secretion, and the receptor SF-1 appears to be essentially involved in these processes.
The SF-1 and beta-catenin pathway convergence on StarD7 expression may have important implications in the phospholipid uptake and transport, contributing to the normal trophoblast development.
The role of the NR5A1 activating functions AF-1 & AF (zeige Psmd4 Antikörper)-2 was studied in luteinizing bovine theca cells. The regulation of the 3 NR5A1-controlled genes CYPA11, STAR, & INSL3 (zeige INSL3 Antikörper) apparently is not dependent on NR5A1 activating functions AF-1 (zeige Psmd4 Antikörper) or AF-2.
Involvement of Ad4BP/SF-1, DAX-1 (zeige NR0B1 Antikörper), and COUP-TFII (zeige NR2F2 Antikörper) transcription factor on steroid production and luteinization in ovarian theca cells.
GATA4 (zeige GATA4 Antikörper) and GATA6 (zeige GATA6 Antikörper) mRNA and proteins could be detected in bovine corpus luteum (CL). GATA6 (zeige GATA6 Antikörper) showed a marked decrease at the regressed luteal stage, like NR5A1, NR5A2 (zeige NR5A2 Antikörper), and the other steroidogenic markers.
NR5A1 variations influence meat color in a hypothalamus-pituitary-adrenal axis independent manner
The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect.
, adrenal 4 binding protein
, adrenal 4-binding protein
, fushi tarazu factor homolog 1
, nuclear receptor AdBP4
, steroid hormone receptor Ad4BP
, steroidogenic factor 1
, steroidogenic factor 1 nuclear receptor
, steroidogenic factor-1
, embryonal LTR-binding protein
, embryonal long terminal repeat-binding protein
, fushi tarazu 1 factor homolog
, steroid hydroxylase positive regulator
, fushi tarazu
, nuclear receptor subfamily 5 group A member 2
, nuclear receptor subfamily 5 group A member 1
, nuclear receptor subfamily 5, group A, member 1
, steroidgenic factor 1
, steroidogenic factor-1 SF-1
, LOW QUALITY PROTEIN: steroidogenic factor 1