Property Summary

NCBI Gene PubMed Count 134
PubMed Score 522.78
PubTator Score 361.68

Knowledge Summary

Patent (33,772)

Expression

  Differential Expression (6)

Disease log2 FC p
lung cancer 2.500 4.8e-04
pilocytic astrocytoma 2.100 1.9e-06
subependymal giant cell astrocytoma 2.397 3.4e-02
lung carcinoma 1.400 1.6e-14
ovarian cancer -2.900 7.2e-11
pituitary cancer 2.000 3.2e-03

Synonym

Accession P51843 Q96F69
Symbols AHC
AHX
DSS
GTD
HHG
AHCH
DAX1
DAX-1
NROB1
SRXY2

Gene

PDB

4RWV  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

  TechDev Info (1)

Jun Qin 39 Signaling network evaluation of transcript factor crosstalk via catTRE/MS

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
2277 screening 14 / 0 / 0 Center Based Initiative to identify novel modulators of the Retinoic acid receptor-related Orphan Receptors (ROR): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors.
504766 screening 3418 / 0 / 340282 Luminescence-based primary cell-based high throughput screening assay to identify inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
504790 summary 0 / 0 / 0 Summary of the probe development efforts to identify inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
504934 other 1 / 0 / 0 Late stage assay provider results from the probe development effort to identify inverse agonists of the liver receptor homolog-1 (LRH-1; NR5A2): luminescence-based high throughput cell-based assay to identify modulators of human nuclear receptors
588797 confirmatory 1 / 0 / 241 Luminescence-based cell-based high throughput dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
588821 screening 6 / 0 / 23 Late stage counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): luminescence-based cell-based dose response assay to identify compounds that interfere with the UAS/Gal4 system and/or luciferase reporter.
588822 screening 0 / 0 / 29 Late stage luminescence-based cell-based dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1).
624301 other 0 / 0 / 2 Late stage assay provider counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): absorbance-based cell-based dose response assay for inhibitors of DAX-1 (CAT activity)
624302 other 2 / 0 / 27 Late stage assay provider luminescence-based cell-based dose response assay for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1)
624307 other 0 / 0 / 29 Late stage assay provider counterscreen for inhibitors of the orphan nuclear receptor subfamily 0, group B, member 1 (DAX1; NR0B1): luminescence-based cell-based dose response assay for inhibitors of Star (Steroidogenic acute regulatory protein)
More...

Gene RIF (88)

PMID Text
26207377 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.
26168243 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
25985323 DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis.
25968435 DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
25171651 results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development
25079468 Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
25003377 Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism.
24751136 DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review.
24668626 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.
24531914 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.
24104199 MiR-561 worsens APAP-induced hepatotoxicity via inhibition of DAX-1.
23846226 Androgens, through DAX-1, inhibit aromatase expression in breast cancer cell lines.
23824603 Loss of NR0B1 gene is associated with adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1
23585174 We report a novel non-sense p.Gln208X mutation in the amino terminal domain of the DAX-1 gene observed in a large family with three boys presenting with adrenal manifestations at different ages.
23512386 Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.
23378245 NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency
23018754 study identified NR0B1 sequence variants in 4 congenital adrenal hypoplasia/hypogonadal hypogonadism pedigrees; 3 are novel and 2 represent the first NR0B1 variants reported in patients of Arabic ethnic origin
22896671 DAX-1 as a novel and potent constitutive androstane receptor (CAR) corepressor and suggest that DAX-1 functions as a coordinate hepatic regulator of CAR's biological function.
22843091 These results indicate the reciprocal relationship between NR0B1 and PPARgamma on the malignant grade of lung adenocarcinoma
22768659 DAX1 gene mutations are associated with primary adrenal insufficiency.
22761912 decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations
22749036 These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways.
22456342 genetic association study in Swedish subjects: studies to characterize NR0B1 deletions (and contiguous gene deletions) in patients with X-linked congenital adrenal hypoplasia (and their mothers); correlation of genotypes with divergent phenotypes
21856289 DAX1 acts as a co-repressor to negatively modulate FXR transactivity.
21775412 DAX-1/DAX-1A is expressed in germ cells from spermatogonia to spermatids. The similar mRNA expression of DAX-I and DAX-IA in testicular tissues from cases and controls does not support the involvement of DAX-1 in primary spermatogenic failure.
21739173 A novel DAX1 missense mutation, c.1274G>T (p.Arg425Ile), causing X-linked adrenal hypoplasia congenita, was found in a Congolese family.
21672607 Reviews the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function.
21632081 Nonsense and frameshift mutations of the DAX-1 gene partially eliminated the ability of DAX-1 to repress the transcription of steroidogenic acute regulatory protein
21378322 In operable node-negative breast cancer, strong DAX-1 expression is associated with excellent survival.
21270512 Results describe two novel mutations in the human DAX1 gene in patients with X-linked adrenal hypoplasia congenita.
21227944 patient with X-linked congenital adrenal hypoplasia (and associated with hypogonadotropic hypogonadism) was found to have a mutation in NR0B1 [(C1210T) leading to a stop codon in position 404 (Q404X)] [CASE REPORT]
21164257 This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.
21029627 Male children with adrenal cortical hypofunction should be suspected of X-linked AHC with mutations in NR0B1.
20573681 DAX1 mutations influence the hypothalamus-pituitary-gonadal and adrenal axis and lead to adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
20080977 DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis
19920188 Data suggest that EWS/FLI and NR0B1 physically interact, coordinately modulate gene expression, and mediate the transformed phenotype of Ewing's sarcoma.
19773398 A noncoding mutation causing AHCH, an inversion resulting in a phenotype similar to what is caused by intragenic NR0B1 null mutations. The inversion seems to disrupt and/or relocate regulatory sites crucial in DAX1 expression.
19726747 These results identify nNOS as a target gene of a novel RA/PI3K/Akt/DAX1-dependent pathway in human neuroblastoma cells
19672728 A new mutation resulting in a truncated protein of 76 amino acids, the same in all three affected male patients and in the asymptomatic women of the family.
19651776 DAX-1 inhibits transcriptional activity of HNF4alpha and modulates hepatic gluconeogenic gene expression
19644015 NR0B1 might play a role in the malignant potential of lung adenocarcinoma
19508677 In X-linked adrenal hypoplasia congenita caused by different molecular defects in NR0B1 gene, the clinical spectrum of the disease is quite variable and precocious sexual development is a prominent feature.
19384854 Results suggest that DAX-1 and SOX6 proteins interact, have overlapped expression in the testis, and act antagonistically during pre-mRNA splicing.
19237537 RNF31 functions to stabilize DAX-1; RNF31 appears to be required for DAX-1 to repress transcription
19199243 X-linked AHC in the kindred was caused by a novel mutation of 428delG in the DAX-1 gene.
19188450 These findings reveal novel functions of SRA and Dax-1 in steroidogenesis and adrenal biology.
19129717 the first case report of X-linked adrenal hypoplasia congenita associated with HHG caused by an intronic mutation of the DAX-1 gene.
19015525 structure of the Dax-1:LRH-1 complex provides the molecular mechanism for the function of Dax-1 as a potent transcriptional repressor
18984668 The positive interaction between DAX1 and SF-1 in regulating PBX1 may be an important mechanism in adrenal gland development and diseases.
18941128 three unrelated cases with variable clinical presentations of congenital adrenal hypoplasia, all with novel mutations in the DAX-1 gene
18827407 DAX1 immunoreactivity is considered a new biological modulator of human prostate cancer, but independent to the status of sex steroid receptors in human prostate cancer tissues.
18824868 Ad4BP/SF-1 and DAX-1 are expressed not only in benign adrenal adenoma but also malignant adrenocortical carcinoma, it is useful to distinguish from other retroperitoneal tumors
18819054 In comparison to DAX-1A, DAX-1 is, by far, the predominant mRNA isoform found in human adrenal glands and gonads.
18591936 DAX1 is important in the pathogenesis of the Ewing's family of tumors, and is a cell-cycle progression regulator.
18417736 DAX-1 directly modulates GR signaling in addition to affecting glucocorticoid hormone levels
18381063 DAX-1 acts as a corepressor of PPARgamma and performs a potential function in the regulation of PPARgamma-mediated cellular differentiation.
18202527 study reported patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by the loss of function mutations of the DAX-1 gene
18038713 novel DAX-1 mutation was detected in two family members with different phenotype: one live infant with adrenal hypoplasia, his mother, and probably his dead brother
17646707 The repressive functions of SHP and DAX-1 have been conserved in fish and mammals although with different transcriptional targets and mechanisms.
17573657 Study describes 3 siblings with adrenal hypoplasia congenita, with different phenotypes; molecular analysis detected a novel mutation, a transition of C to T at position 359 in exon 1 of the DAX1 gene, determining a stop codon.
17308433 Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on 'standard' doses of 9alpha-fludrocortisone and mild testicular enlargement.
17114343 The gene that was most reproducibly up-regulated by EWS/FLI was NR0B1.
16834661 DAX-1 plays a critical role in spermatogenesis in the human testis
16709599 DAX1 and small heterodimer partner (SHP) form homodimers individually, as well as DAX1-SHP heterodimers suggesting the possibility of novel functions independent of their coregulator roles.
16684822 nuclear receptor DAX1 mutations are a relatively frequent cause of adrenal failure in this group of boys
16645015 Three known and two novel mutations were detected in the DAX1 coding sequence in X-linked adrenal hypoplasia congenita patients
16355812 Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene.
16275267 Somatic abnormalities in DAX1 are absent or uncommon in patients with idiopathic nonobstructive azoospermia
16232195 DAX-1 may inhibit the proliferation and progression of endometrial carcinoma through inhibition of estrogenic actions, possibly by interacting with estrogen receptors present in carcinoma cells, rather than regulating in situ steroidogenesis
16206264 The high levels of DAX1 found in Ewing tumors and its potent transcriptional repressor activity suggest that the oncogenic effect of EWS/FLI1 may be mediated, at least in part, by the up-regulation of DAX1 expression.
15988384 *mutated in adrenal gland and reproduction disorderse (REVIEW)
15879363 DAX-1 is a major repressor of ACTH-R gene expression in vitro and in vivo.
15841486 13 novel mutations in the DAX1 protein associated with adrenal hypoplasia gongenita are described.
15589120 determined the presence of an alternatively spliced form of NR0B1, NR0B1A; NR0B1A is encoded by NR0B1 exon 1 & exon 2A located within the 3385 nt intron between NR0B1 exons 1 and 2; detected expression of NR0B1A in adrenal gland, testis, ovary & pancreas
15379426 It remains probable that this unusual patient has either a DAX1 or SF1 mutation defect. A Wnt-4 defect was not evaluated.
15084237 DAX-1 might modify the AR & ER-beta intracellular location. Because a direct positive relation between the expression of these three receptors was found, the presence of DAX-1 in neoplastic cells might indicate a possible failure of endocrine therapies.
15044589 DAX-1alpha can bind to steroidogenic factor 1 and to DNA but is unable to repress steroidogenic factor 1-mediated transcriptional activation of the reporter gene and acts as an antagonist of DAX-1 under certain conditions
12843196 DAX-1 and COUP-TFII may play a role in the modulation of Ad4BP/SF-1-dependent transcription of steroidogenic enzymes in different cell types and follicular stages in normal cycling human ovaries.
12771131 SMRT and DAX-1 repress agonist-dependent activity of both androgen and progesterone receptors
12727988 modulation of DAX-1 and steroidogenic factor-1 intracellular levels in granulosa cells suggests that these transcription factors could be involved in mitogen-activated protein kinase suppression of steroidogenic acute regulatory protein expression
12636049 missense mutations and deletions in dax1 protein is associated with persistent hypertriglyceridemia
12519885 An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita.
12213901 WT1 and this protein inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells
12083815 adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes
12034880 X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein
11875111 potently inhibits ligand-dependent transcriptional activation as well as the interaction between the N- and C-terminal activation domains of the androgen receptor
11748852 Identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X).
11738790 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]

AA Sequence

MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCG      1 - 70
KDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHP     71 - 140
RQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQG    141 - 210
STLYCVPTSTNQAQAAPEERPRAPWWDTSSGALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPL    211 - 280
DQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEAR    281 - 350
KVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ    351 - 420
GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI                        421 - 470
//

Text Mined References (133)

PMID Year Title
26207377 2015 A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
26168243 2015 DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma.
25985323 2015 DAX1 Overexpression in Pediatric Adrenocortical Tumors: A Synergic Role with SF1 in Tumorigenesis.
25968435 2015 Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
25416956 2014 A proteome-scale map of the human interactome network.
25171651 2014 DAX-1 inhibits hepatocellular carcinoma proliferation by inhibiting ?-catenin transcriptional activity.
25079468 A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
25003377 2014 Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.
24751136 2014 Are human male patients with DAX1/NR0B1 mutations infertile?
24668626 2014 Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
24531914 2014 GATA6, SF1, NGFIB and DAX1 in the remodeled subcapsular zones in primary aldosteronism.
24104199 2014 MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromosome, gene 1 (DAX-1).
23846226 2013 DAX-1, as an androgen-target gene, inhibits aromatase expression: a novel mechanism blocking estrogen-dependent breast cancer cell proliferation.
23824603 2013 Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
23585174 2013 A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree.
23512386 Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.
23378245 2013 NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.
23018754 2012 Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.
22896671 2012 The orphan nuclear receptor DAX-1 functions as a potent corepressor of the constitutive androstane receptor (NR1I3).
22843091 2012 Inhibitory effect of PPAR? on NR0B1 in tumorigenesis of lung adenocarcinoma.
22768659 2012 The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
22761912 2012 Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations.
22749036 2012 EWS/FLI-responsive GGAA microsatellites exhibit polymorphic differences between European and African populations.
22456342 2012 Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
21856289 2011 DAX1 suppresses FXR transactivity as a novel co-repressor.
21775412 2011 DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.
21739173 2012 X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
21672607 2011 Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
21632081 2011 Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita.
21378322 2011 The prognostic value of the orphan nuclear receptor DAX-1 (NROB1) in node-negative breast cancer.
21270512 2011 Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
21227944 2011 Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation.
21164257 2011 Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
21029627 2010 [Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].
20573681 2010 Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
20080977 2010 Orphan nuclear receptor DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis.
19920188 2009 EWS/FLI and its downstream target NR0B1 interact directly to modulate transcription and oncogenesis in Ewing's sarcoma.
19773398 2009 X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
19726747 2009 Retinoic acid-induced nNOS expression depends on a novel PI3K/Akt/DAX1 pathway in human TGW-nu-I neuroblastoma cells.
19672728 2009 A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
19651776 2009 DAX-1 acts as a novel corepressor of orphan nuclear receptor HNF4alpha and negatively regulates gluconeogenic enzyme gene expression.
19644015 2009 Tumorigenic role of orphan nuclear receptor NR0B1 in lung adenocarcinoma.
19508677 2010 Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
19384854 2009 DAX-1 and SOX6 molecular interplay results in an antagonistic effect in pre-mRNA splicing.
19237537 2009 E3 ubiquitin ligase RNF31 cooperates with DAX-1 in transcriptional repression of steroidogenesis.
19199243 2009 [A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia].
19188450 2009 Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis.
19129717 2009 X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
19015525 2008 The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1.
18984668 2009 CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
18941128 2008 Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene.
18827407 2009 Nuclear receptor DAX1 in human prostate cancer: a novel independent biological modulator.
18824868 2008 Usefulness of transcription factors Ad4BP/SF-1 and DAX-1 as immunohistologic markers for diagnosis of advanced adrenocortical carcinoma.
18819054 2009 DAX-1A (NR0B1A) expression levels are extremely low compared to DAX-1 (NR0B1) in human steroidogenic tissues.
18591936 2008 DAX1, a direct target of EWS/FLI1 oncoprotein, is a principal regulator of cell-cycle progression in Ewing's tumor cells.
18417736 2008 DAX-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X-chromosome, gene 1) selectively inhibits transactivation but not transrepression mediated by the glucocorticoid receptor in a LXXLL-dependent manner.
18381063 2008 The orphan nuclear receptor DAX-1 acts as a novel transcriptional corepressor of PPARgamma.
18202527 2008 Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
18038713 2007 A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.
17686645 LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.
17646707 2007 Distinct repressive properties of the mammalian and fish orphan nuclear receptors SHP and DAX-1.
17573657 2007 A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita.
17308433 2007 A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
17114343 2006 NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing's sarcoma.
16834661 2006 Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16709599 2006 Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.
16684822 2006 Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
16645015 2006 DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
16355812 2005 Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.
16275267 2005 Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia.
16232195 2005 Orphan nuclear receptor DAX-1 in human endometrium and its disorders.
16206264 2006 The orphan nuclear receptor DAX1 is up-regulated by the EWS/FLI1 oncoprotein and is highly expressed in Ewing tumors.
16146703 DAX1 origin, function, and novel role.
15988384 2005 The role of SF1/DAX1 in adrenal and reproductive function.
15879363 2005 Clinical and molecular evidence for DAX-1 inhibition of steroidogenic factor-1-dependent ACTH receptor gene expression.
15841486 2005 Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
15800903 2005 Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.
15589120 2004 NR0B1A: an alternatively spliced form of NR0B1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15464421 Molecular mechanisms of DAX1 action.
15379426 2004 Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report.
15100213 2004 Quantitative proteomics of the thyroid hormone receptor-coregulator interactions.
15084237 2004 DAX-1 expression in human breast cancer: comparison with estrogen receptors ER-alpha, ER-beta and androgen receptor status.
15044589 2004 Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing.
12843196 2003 Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
12771131 2003 Repressors of androgen and progesterone receptor action.
12727988 2003 Down-regulation of steroidogenic response to gonadotropins in human and rat preovulatory granulosa cells involves mitogen-activated protein kinase activation and modulation of DAX-1 and steroidogenic factor-1.
12636049 2003 Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.
12629128 2003 Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
12519885 2003 An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
12482977 2003 LXXLL-related motifs in Dax-1 have target specificity for the orphan nuclear receptors Ad4BP/SF-1 and LRH-1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12213901 2002 WT1 and DAX-1 inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells.
12213854 2002 Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
12083815 2002 Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
11875111 2002 Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1.
11788621 2002 Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
11748852 2001 Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
11738790 2001 Phenotypic spectrum of mutations in DAX-1 and SF-1.
11713202 2001 DAX-1 represses the high-density lipoprotein receptor through interaction with positive regulators sterol regulatory element-binding protein-1a and steroidogenic factor-1.
11549627 2001 Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene.
11459805 2001 RIP 140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1.
11443184 2001 Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
11113848 2000 Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.
11053406 2000 DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors.
10848616 2000 Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
10713076 2000 Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita.
10675358 2000 A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
10599709 1999 X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
10522996 1999 Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.
10412368 1999 DAX-1, an 'antitestis' gene.
10361383 1999 A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
10341858 1999 Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
10323730 1999 Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.
9529340 1998 DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
9486644 1998 Dax1 antagonizes Sry action in mammalian sex determination.
9415399 1997 A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita.
9384387 1997 DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.
9360549 1997 Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
9063431 1997 Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
9003500 1997 X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.
8855822 1996 Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
8675564 1996 Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
8636263 1996 New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
8593542 1995 Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
7990958 1994 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
7990953 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
7951319 1994 A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
7677767 1995 Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter.
6891556 1982 X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family.
1505987 1992 Identification of new markers in Xp21 between DXS28 (C7) and DMD.
1301166 1992 A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.