NR0B1 Antibody

1. A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism. PMID: 28075027
2. 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. PMID: 27281610
3. Nonsense mutation in the DAX-1 gene is associated with precocious puberty and late-onset hypogonadotropic hypogonadism. PMID: 28284037
4. 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. PMID: 27035099
5. DAX1 and SF1 expression positively correlated in pediatric adrenocortical tumors, suggesting that these transcription factors might cooperate in adrenocortical tumorigenesis. PMID: 25985323
6. 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. PMID: 26207377
7. 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 PMID: 26168243
8. DAX1 mutations were associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 25968435
9. Case Report: novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. PMID: 25079468
10. DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 mutations. Review. PMID: 24751136
11. results suggest a previously unknown DAX-1/beta-Catenin molecular network controlling HCC development PMID: 25171651
12. Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene. PMID: 16355812
13. Deletion in exon 2 of NR0B1 is associated with late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism. PMID: 25003377
14. 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. PMID: 24531914
15. 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. PMID: 24668626
16. MiR-561 worsens APAP-induced hepatotoxicity via inhibition of DAX-1. PMID: 24104199
17. Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. PMID: 23512386
18. Androgens, through DAX-1, inhibit aromatase expression in breast cancer cell lines. PMID: 23846226
19. These results indicate the reciprocal relationship between NR0B1 and PPARgamma on the malignant grade of lung adenocarcinoma PMID: 22843091
20. NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency PMID: 23378245
21. Loss of NR0B1 gene is associated with adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 PMID: 23824603
22. 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. PMID: 23585174
23. 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 PMID: 23018754
24. 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. PMID: 22896671
25. decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations PMID: 22761912
26. These data suggest that GGAA microsatellite polymorphisms in the NR0B1 gene might influence disease susceptibility and prognosis in Ewing sarcoma in unanticipated ways. PMID: 22749036
27. A novel DAX1 missense mutation, c.1274G>T (p.Arg425Ile), causing X-linked adrenal hypoplasia congenita, was found in a Congolese family. PMID: 21739173
28. 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 PMID: 22456342
29. DAX1 gene mutations are associated with primary adrenal insufficiency. PMID: 22768659
30. Results describe two novel mutations in the human DAX1 gene in patients with X-linked adrenal hypoplasia congenita. PMID: 21270512
31. Reviews the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function. PMID: 21672607
32. 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. PMID: 21775412
33. 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 PMID: 21632081
34. DAX1 acts as a co-repressor to negatively modulate FXR transactivity. PMID: 21856289
35. Male children with adrenal cortical hypofunction should be suspected of X-linked AHC with mutations in NR0B1. PMID: 21029627
36. 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] PMID: 21227944
37. In operable node-negative breast cancer, strong DAX-1 expression is associated with excellent survival. PMID: 21378322
38. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations. PMID: 21164257
39. DAX1 mutations influence the hypothalamus-pituitary-gonadal and adrenal axis and lead to adrenal hypoplasia congenita and hypogonadotropic hypogonadism. PMID: 20573681
40. 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. PMID: 19508677
41. DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis PMID: 20080977
42. 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] PMID: 11738790
43. Identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). PMID: 11748852
44. potently inhibits ligand-dependent transcriptional activation as well as the interaction between the N- and C-terminal activation domains of the androgen receptor PMID: 11875111
45. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein PMID: 12034880
46. adrenal hypoplasia congenita and multiple pituitary hormone deficiency without mutations in the DAX1 or SF1 genes PMID: 12083815
47. WT1 and this protein inhibit aromatase P450 expression in human endometrial and endometriotic stromal cells PMID: 12213901
48. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation (Q37X) leading to a mild form of X-linked adrenal hypoplasia congenita. PMID: 12519885
49. missense mutations and deletions in dax1 protein is associated with persistent hypertriglyceridemia PMID: 12636049
50. 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 PMID: 12727988

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HGNC: 7960

OMIM: 300018

KEGG: hsa:190

STRING: 9606.ENSP00000368253

UniGene: Hs.268490