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TCF21 (zeige TCF21 Proteine) modulates Steroidogenic factor-1 (zeige NR5A1 Proteine) and estrogen receptor beta (zeige ESR2 Proteine) expression through the recruitment of USF2 (zeige USF2 Proteine) in endometriotic stromal cells.
none of the NR5A1 (zeige NR5A1 Proteine) mutations reported to be associated with male infertility were found in our study, except one polymorphism, rs1110061. However, it was not significantly different between infertile and fertile groups. In addition, we have identified six intronic variants; but none of them was significantly associated with male infertility.
In vitro functional analyses demonstrate impaired transactivation by NR5A1 (zeige NR5A1 Proteine) mutations found in patients with 46,XY disorders of sex development.
This study adds nine novel pathogenic NR5A1 (zeige NR5A1 Proteine) variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 (zeige NR5A1 Proteine) function and the additional factors that contribute.
rete ovarii were positive for PAX-8 (zeige PAX8 Proteine), weakly positive for SF-1 (zeige NR5A1 Proteine), and negative for PAX-2 (zeige PAX2 Proteine) and GATA-3 (zeige GATA3 Proteine)
SF1 (zeige NR5A1 Proteine) was the only specific marker of uterine tumour resembling ovarian sex cord-stromal tumour
this study identified a novel regulatory circuit for ovarian AMH (zeige AMH Proteine) production; specifically, through the coordinated interplay between FOXL2 (zeige FOXL2 Proteine) and SF-1 (zeige NR5A1 Proteine) that could control ovarian follicle development.
We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 (zeige NR5A1 Proteine) mutation in a 46,XY-DSD (zeige FADS1 Proteine) with polysplenia female proband and her father, who had hypospadias and asplenia.
Results identified a novel heterozygous NR5A1 (zeige NR5A1 Proteine) mutation, c.274C>T p.(Arg92Trp), in three unrelated patients with 46,XX (ovo)testicular disorders of sex development (DSD (zeige FADS1 Proteine)). Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1 (zeige MAMLD1 Proteine), a direct NR5A1 (zeige NR5A1 Proteine) target previously associated with 46,XY DSD (zeige FADS1 Proteine). This study proposes NR5A1 (zeige NR5A1 Proteine) as a novel gene for 46,XX (ovo)testicular DSD (zeige FADS1 Proteine).
The results raise the possibility that specific mutations in NR5A1 (zeige NR5A1 Proteine) underlie testicular development in genetic females.
SF1 directly contributes to the abnormal uterine gland morphogenesis.
Sf1 SUMOylation and Dax1 (zeige NR0B1 Proteine) have roles in the physiological cessation of FAdE-mediated Sf1 expression and the resultant regression of the postnatal fetal cortex (X-zone)
we found that KLF6 (zeige KLF6 Proteine) transcriptionally cooperates with NUR77 (zeige NR4A1 Proteine) and SF1
SF1 in the ventromedial nucleus of the hypothalamus regulates age-dependent obesity.
Data suggest that Sf1 and c-jun interact and cooperate to activate the Fdx1 promoter in MA-10 (tumorigenic cell line) and TM3 (non-tumorigenic cell line) Leydig cells; such activation requires different regulatory elements located between -124 and -306 bp of Fdx1 promoter and involves recruitment of Sf1 to this region. (Sf1 = splicing factor 1; c-jun = proto-oncogene c-jun; Fdx1 = ferredoxin 1)
The results of the current study show that EB treatment from P25 (zeige CDK5R1 Proteine) to P36 (zeige ANXA2 Proteine) could not restore the number of kisspeptin-ir cells in the AVPV in agonadal SF-1 KO mice to numbers found in gonadally intact WT or EB-treated WT/OVX females
the data suggest that the inhibitory effects of melatonin on testosterone production are mediated via down-regulation of GATA-4 (zeige GATA4 Proteine) and SF-1 expression.
Results clearly indicate that SF-1 is involved in the regulation of LIPE (zeige LIPE Proteine) expression after activation of protein kinase A in adrenocortical cells.
SF-1 is involved in cell cycle regulation, neurogenesis, and neuronal migration via controlling the estrogen signaling for proper neocortical development.
SIRT1 (zeige SIRT1 Proteine) Relays Nutritional Inputs to the Circadian Clock Through the Sf1 Neurons of the Ventromedial Hypothalamus.
The studies performed did not confirm the ability of the SF1 insulator to protect expression of reporter gene white from the chromosome position effect in transgenic lines.
RRM domain of Arabidopsis splicing factor (zeige SLU7 Proteine) SF1 is important for pre-mRNA splicing of a specific set of genes
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.
mammalian branch point-binding protein
, transcription factor ZFM1
, zinc finger gene in MEN1 locus
, zinc finger protein 162
, 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
, splicing factor 1
, splicing factor 1, isoform 1