|
X-linked Adrenal Hypoplasia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
DOSAGE-SENSITIVE SEX REVERSAL
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
46, XX Testicular Disorders of Sex Development
|
0.310 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
|
28483799 |
2017 |
|
XX males
|
0.300 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
|
28483799 |
2017 |
|
46,XY partial gonadal dysgenesis
|
0.300 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
|
18384427 |
2008 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that a folding defect underlies the impaired function of DAX-1 missense mutants found in AHC/HHG patients and that interactions with transcriptional cofactors different from known corepressors mediate DAX-1 silencing properties.
|
12700175 |
2003 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we consider mutations in KAL in X-linked Kallmann syndrome; DAX1 in X-linked adrenal hypoplasia congenita; the related orphan nuclear receptor, steroidogenic factor-1; leptin and prohormone convertase-1, which may influence GnRH release and processing; the GnRH receptor; the pituitary transcription factors, HESX-1, LHX3 and PROP-1; and the gonadotropins, follicle stimulating hormone (FSH) and luteinizing hormone (LH).
|
11220702 |
2001 |
|
X-linked Adrenal Hypoplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The purpose of these investigations was to determine if DAX-1 was expressed in the central nervous system, particularly the hypothalamus and pituitary, in order to better understand the relationship of mutations in this gene to HH associated with AHC.
|
8593542 |
1995 |
|
DOSAGE-SENSITIVE SEX REVERSAL
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
NR0B1 (nuclear receptor subfamily 0, group B, member 1) is a transcription factor encoded by DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) responsible for the development and maintenance of the steroidogenic tissues.
|
31280422 |
2019 |
|
DOSAGE-SENSITIVE SEX REVERSAL
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
So far there have been no reports on the expression pattern of DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) in human breast cells and its relationship to the estrogen receptors, ER-alpha and ER-beta, and the androgen receptor (AR).
|
15084237 |
2004 |
|
Oligospermia
|
0.420 |
AlteredExpression
|
disease |
BEFREE |
The average expression levels of DAX-1 mRNA for patients with maturation arrest (0.39 +/- 0.19) and Sertoli cell-only syndrome (0.13 +/- 0.08) were lower than that with hypospermatogenesis (1.60 +/- 1.32) and normal spermatogenesis (1.30 +/- 1.41).
|
16834661 |
2006 |
|
Congenital hypoplasia of adrenal gland
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that a folding defect underlies the impaired function of DAX-1 missense mutants found in AHC/HHG patients and that interactions with transcriptional cofactors different from known corepressors mediate DAX-1 silencing properties.
|
12700175 |
2003 |
|
46, XX Testicular Disorders of Sex Development
|
0.310 |
AlteredExpression
|
disease |
BEFREE |
We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development.
|
24149105 |
2013 |
|
Azoospermia
|
0.140 |
AlteredExpression
|
disease |
BEFREE |
Second, we performed quantitative RT-PCR using testicular biopsy samples obtained from 22 idiopathic azoospermic patients to examine the expression of Ad4bp/SF-1 and DAX-1, and analysed the correlation between the expression levels of both factors and the serum hormone levels or histological evaluation to study their potential correlation with steroidogenesis and spermatogenesis on idiopathic azoospermia.
|
16834661 |
2006 |
|
Colitis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In the present study, we used AOM/DSS to induce colitis-mediated colorectal tumor after establishing expression of Wdr13 gene in colon.
|
28222755 |
2017 |
|
Ulcerative Colitis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Our findings show that CHMP5 is a direct target of MIR429 in human colon cancer cell lines and suggest that CHMP5 up-regulation as a result of reduced MIR429 expression in DSS-induced mice colitis tissues and human UC tissues may restrict apoptosis and promote cell proliferation.
|
30334065 |
2018 |
|
Ulcerative Colitis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Our results indicate that CA could ameliorate DSS-induced colitis through inhibition of NLRP3 inflammasome activation and miR-21 and miR-155 levels in colons and macrophage, suggesting that CA might be a potentially effective drug for UC.
|
30530166 |
2019 |
|
Colorectal Carcinoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Eliminating ME1 by short hairpin RNA (shRNA) resulted in obviously decreased NADPH production, levels of triglyceride and fatty acid, and an inhibition of tumorigenicity of KRAS-mutant CRCs. miR-30a overexpression and ME1 suppression attenuated AOM/DSS-induced colorectal tumorigenesis.
|
28475173 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
|
25985323 |
2015 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Multivariate analysis revealed high NR0B1 expression levels, stage of the disease, and size of tumor to be independent unfavorable prognostic factors for overall and disease-free survival rates.
|
19644015 |
2009 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
These data suggest that high DAX-1 expression in adrenocortical tumors is associated with a non-functional phenotype whereas low DAX-1 expression favors mineralocorticoid secretion.
|
9661652 |
1998 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We also aimed to characterize the differential gene expression profiles in AOM/DSS-induced tumors as well as in tumors modulated by ASA and CUR using RNA-seq.
|
28267439 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Although low DAX1 expression in aldosterone-producing adenomas (n = 5) was confirmed (P < 0.05), no correlation was found between the expression of all other genes and the tumors endocrine activity.
|
15181092 |
2004 |
|
Carcinogenesis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
One of these regulated genes, NR0B1, encodes a corepressor protein, and likely plays a transcriptional role in tumorigenesis.
|
19920188 |
2009 |
|
Carcinogenesis
|
0.100 |
AlteredExpression
|
phenotype |
BEFREE |
Additionally, DAX1 and SF1 expression positively correlated in ACTs, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
|
25985323 |
2015 |