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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 Proteine) signaling, and this function parallels the activity of another slow muscle gene, prox1 (zeige PROX1 Proteine)
The role of Sox9a in ff1a gene regulation and function was studied using sox9a morpholinos.
Ten novel heterozygous NR5A1 mutations were identified in 46,XY DSD (zeige FADS1 Proteine) 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 Proteine), SF-1, and ACTH (zeige POMC Proteine).
We analysed a Pakistani cohort of patients with 46,XY disorders of sex development (DSD (zeige FADS1 Proteine)), 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 Proteine).
demonstrate aberrant expressions of SF-1 and LRH-1 (zeige NR5A2 Proteine) in endometriotic granulosa-lutein cells
this is the first report of the NR5A1 splice site mutation, which was proven to be deleterious by the RT-PCR method.
SF1 SNPs are associated with serum uric acid levels in Chinese males and females.
Describe microcystic stromal tumor as a distinctive ovarian sex cord-stromal neoplasm characterized by FOXL2 (zeige FOXL2 Proteine), SF-1, WT-1 (zeige WT1 Proteine), Cyclin D1 (zeige CCND1 Proteine), and beta-catenin (zeige CTNNB1 Proteine) nuclear expression and CTNNB1 (zeige CTNNB1 Proteine) mutations.
Data suggest that Ad4BP plays role in regulation of intracellular NADPH (zeige FDXR Proteine) concentration via transcription of Me1 (zeige ME1 Proteine) and Mthfd2 (zeige MTHFD2 Proteine) genes in adrenocortical cells. (Ad4BP = nuclear receptor subfamily 5 group A member 1; Me1 (zeige ME1 Proteine) = malic enzyme 1 (zeige ME1 Proteine); Mthfd2 (zeige MTHFD2 Proteine) = bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase)
WT1 (zeige WT1 Proteine) is required for the lineage specification of both Sertoli and granulosa cells by repressing Sf1 (zeige SF1 Proteine) expression. Without Wt1 (zeige WT1 Proteine), the expression of Sf1 (zeige SF1 Proteine) 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 Proteine) and CYP11A1 (zeige CYP11A1 Proteine), and a resulting increase in unmetabolized cholesterol.
SF-1 (zeige SF1 Proteine) 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 Proteine) accumulation
The results suggest that gonadal steroids do not influence the production of neurosteroids in the fetal brain, nor does SF-1 (zeige SF1 Proteine) play a major role in the regulation of steroidogenic enzyme expression in the brain.
MiR (zeige MLXIP Proteine)-383 promoted the expression of miR (zeige MLXIP Proteine)-320 which regulated granulosa cell functions by targeting E2F1 (zeige E2F1 Proteine) and SF-1 (zeige SF1 Proteine) proteins.
Data indicate that genetic ablation of the Vanin-1 (Vnn1 (zeige VNN1 Proteine)) gene in SF-1 (NR5A1) transgenic mice significantly reduced the severity of neoplastic lesions in the adrenal cortex.
FOXL2 (zeige FOXL2 Proteine) negatively regulates Sf1 (zeige SF1 Proteine) expression by antagonizing WT1 (zeige WT1 Proteine)-KTS during early ovarian development in mice
we provide the evidence that the acidic residue (E199) located downstream from the core consensus SUMO site of NR5A1 is, at least in part, required for SUMOylation of NR5A1 and for its mediated target gene and protein expression.
NR5A1 variations influence meat color in a hypothalamus-pituitary-adrenal axis independent manner
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 Proteine)-2 was studied in luteinizing bovine theca cells. The regulation of the 3 NR5A1-controlled genes CYPA11, STAR, & INSL3 (zeige INSL3 Proteine) apparently is not dependent on NR5A1 activating functions AF-1 (zeige Psmd4 Proteine) or AF-2.
Involvement of Ad4BP/SF-1, DAX-1 (zeige NR0B1 Proteine), and COUP-TFII (zeige NR2F2 Proteine) transcription factor on steroid production and luteinization in ovarian theca cells.
GATA4 (zeige GATA4 Proteine) and GATA6 (zeige GATA6 Proteine) mRNA and proteins could be detected in bovine corpus luteum (CL). GATA6 (zeige GATA6 Proteine) showed a marked decrease at the regressed luteal stage, like NR5A1, NR5A2 (zeige NR5A2 Proteine), and the other steroidogenic markers.
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.
, fushi tarazu
, nuclear receptor subfamily 5 group A member 2
, steroidogenic factor 1
, nuclear receptor subfamily 5, group A, member 1
, steroidgenic factor 1
, steroidogenic factor-1
, adrenal 4 binding protein
, adrenal 4-binding protein
, fushi tarazu factor homolog 1
, nuclear receptor AdBP4
, steroid hormone receptor Ad4BP
, steroidogenic factor 1 nuclear receptor
, embryonal LTR-binding protein
, embryonal long terminal repeat-binding protein
, fushi tarazu 1 factor homolog
, steroid hydroxylase positive regulator
, nuclear receptor subfamily 5 group A member 1
, steroidogenic factor-1 SF-1