Inhibition of beta-catenin dependent WNT signalling upregulates the transcriptional repressor NR0B1 and downregulates markers of an A9 phenotype in human embryonic stem cell-derived dopaminergic neurons: Implications for Parkinson's disease.
Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.
an intrinsic gonadotropin- and ACTH-independent activation of steroidogenesis in the DAX1 deficient testes leads to precocious puberty in adrenal hypoplasia congenital in patients with DAX1 mutations.
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.
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.
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 and SF1 expression positively correlated in pediatric adrenocortical tumors suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
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