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The proximity of the expression of dax1 to 5th branchial arch and numerous known tooth markers led us to hypothesize that dax1 is involved in pharyngeal tooth development in the zebrafish.
A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.
Based on the level of NR0B1 expression in lung adenocarcinoma cells with different clinical stages, our results indicate that epigenetic modifications promote NR0B1 activation to maintain the self-renewal of cancer cells.
Nonsense mutation in the DAX-1 gene is associated with precocious puberty and late-onset hypogonadotropic hypogonadism.
These findings suggested that the mutation of NR0B1 in X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism enhanced the function of DAX1 to repress SF-1 activation, while DAX1 is expected to have additional roles in the pathological mechanism.
DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
This novel mutation (p. V385L) of DAX-1 is the first to be identified in association with secretory azoospermia, thereby highlighting the important role of DAX-1 in spermatogenesis.
DAX-1 is less specific than Ap2beta, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2beta
DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review.
results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development
Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene.
Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism.
Data suggest that levels of DAX1/NR0B1 in subcapsular zone of adrenal glands (zona glomerulosa) are not prominently different in subjects with primary aldosteronism, subjects with aldosterone-producing adrenocortical adenomas, or normal subjects.
Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies.
MiR-561 worsens APAP-induced hepatotoxicity via inhibition of DAX-1.
Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.
Androgens, through DAX-1, inhibit aromatase expression in breast cancer cell lines.
These results indicate the reciprocal relationship between NR0B1 and PPARgamma on the malignant grade of lung adenocarcinoma
NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency
CpG methylation within the NR0B1 promoter is not involved in the in vivo regulation of NR0B1 expression, whereas the hyperacetylation of histone H4 and the unmethylation of histones H3K9 and H3K27, and their binding to the NR0B1 promoter results in decondensed euchromatin for NR0B1 activation.
Sf1 SUMOylation and Dax1 have roles in the physiological cessation of FAdE-mediated Sf1 expression and the resultant regression of the postnatal fetal cortex (X-zone)
Findings indicate that the Gata6 promoter is activated by Esrrb in association with Ncoa3, and Dax1 inhibited activities of Esrrb and Ncoa3, resulting maintenance of the undifferentiated status of embryonic stem (ES) cells.
Data indicate that nuclear receptor subfamily 0 group B member 1 (Nr0b1) interacted with androgen receptor (AR) in Sertoli cells (SCs).
Nr0b1 is a negative regulator of Zscan4c in mouse embryonic stem cells
Dax1 and Nanog have roles in stabilizing mouse embryonic stem cells and induced pluripotency
Here we review the current knowledge on properties, functions and mechanisms of DAX1 action.
Insulin-mediated induction of DAX-1 in Leydig cells of testis may be a key regulatory step of serum sex hormone level in insulin-resistant states.
Dax1 functions as a negative regulator of Esrrb and Oct3/4, and these molecules form a regulatory loop for controlling the pluripotency and self-renewal capacity of embryonic stem cells.
Transcriptional differences between mouse embryonic and epiblast stem cells is mediated through a Sox2/Esrrb heterodimer regulating Nr0b1.
Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9).
overexpression of DAX-1 had no effect on the retinoic acid-induced differentiation of P19 cells to either endodermal or neuronal cells
these data reveal that both Dax1(-/Y) mice and patients with X-linked AHC exhibit adrenal failure that is consistent with adrenocortical subcapsular progenitor cell depletion and argue for a significant role of Dax1 in maintenance of these cells.
These data indicate that LRH-1 and Nanog cooperate to regulate Dax1 expression in mouse embryonic stem cells.
Dax1 plays an important role in the maintenance of pluripotency in mES cells through interaction with LRH-1 and transcriptional activation of Oct4 and other genes
DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis
describe phenotypic spectrum of disorders associated with mutations and reveal how the discovery of naturally occurring mutations is helping to unravel the role in development and disease [review]
important regulators of steroidogeneisis are present in human skin and its appendages.
expression is dependent on steroidogenic factor 1 in the developing gonad
study revealed that the expression of Dax-1 in the adrenal cortex is regulated by androgen and the receptor
Involvement of Ad4BP/SF-1, DAX-1, and COUP-TFII transcription factor on steroid production and luteinization in ovarian theca cells.
the decrease of Dax-1 transcription factor and the increase in histone H3 acetylation may play important roles in progesterone synthesis in luteinizing granulosa cells.
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
, nuclear receptor subfamily 0 group B member 1
, nuclear receptor subfamily 0, group B, member 1
, orphan nuclear receptor DAX-1
, DSS-AHC critical region on the X chromosome, gene 1
, DSS-AHC critical region on the X chromosome protein 1
, nuclear hormone receptor
, nuclear receptor DAX-1
, nuclear receptor DAX1
, adrenal hyoplasia protein DAX1
, adrenal hypoplasia congenital
, adrenal hypoplasia congenita-like protein
, adrenal hypoplasia, congenital homolog