NR0B1 Pre-design Chimera RNAi
- Known as:
- NR0B1 Pre-design Chimera RNAi
- Catalog number:
- H00000190-R01
- Product Quantity:
- 10 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- NR0B1 Pre-design Chimera RNAi
Related genes to: NR0B1 Pre-design Chimera RNAi
- Gene:
- NR0B1 NIH gene
- Name:
- nuclear receptor subfamily 0 group B member 1
- Previous symbol:
- AHC, DSS
- Synonyms:
- DAX1, AHCH
- Chromosome:
- Xp21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-10-05
Related products to: NR0B1 Pre-design Chimera RNAi
Related articles to: NR0B1 Pre-design Chimera RNAi
- To investigate the molecular etiology in a male child clinically suspected of congenital adrenal hyperplasia (CAH) with negative conventional genetic testing, and to elucidate the genetic characteristics of his pedigree. - Source: PubMed
Publication date: 2026/08/28
Zhang DonghuaLi WenchunLi MeiLu YinghongNing SisiLiang XiafeiXie YulingQin Yunrong - Cryptorchidism is the most prevalent pediatric genital anomaly, yet its clinical significance often extends beyond simple anatomical maldescent. While surgical management is well-established, the necessity for holistic endocrine and genetic evaluation remains underexplored. We aimed to characterize the clinical, hormonal, and genetic landscapes of patients referred for pediatric endocrinological assessment following orchiopexy. - Source: PubMed
Publication date: 2026/08/26
Sütçü Zümrüt KocabeyKaplan Emel Hatun AytaçÖnal Hasan - Small cell lung cancer (SCLC) is a highly aggressive malignancy characterized by rapid progression, early metastasis, frequent relapse, and treatment resistance. Although chemoimmunotherapy has improved outcomes in a subset of patients, reliable molecular stratification tools reflecting tumor heterogeneity and survival risk remain limited. Chaperone-mediated autophagy (CMA) is involved in proteostasis, metabolic adaptation, and stress responses, but its cellular heterogeneity and prognostic relevance in SCLC remain unclear. - Source: PubMed
Publication date: 2026/07/17
Han JiahongXu ShunJiang Yunfeng - Xp21 contiguous gene deletion syndrome is a rare X-linked disorder caused by interstitial deletions involving neighboring genes such as , , , and , and is clinically associated with primary adrenal insufficiency, glycerol kinase deficiency, Duchenne muscular dystrophy, and neurodevelopmental delay. The phenotype depends on deletion size and gene content. We report a male child with a 4.5 Mb hemizygous deletion at Xp21.3-p21.2 encompassing , , , and exons 61 to 79 of , confirmed by exome sequencing and shown to be maternally inherited. The presented patient was admitted at 8 day of life due to concerns for primary muscular or metabolic disease. During the second week of life, the patient developed salt-wasting primary adrenal insufficiency with hyponatremia and hyperkalemia. Persistently elevated creatine kinase exceeding 3000 U/L and markedly elevated cardiac biomarkers were observed in the absence of structural and functional cardiac abnormalities. Urinary organic acid analysis demonstrated significant glyceroluria, and severe serum hypertriglyceridemia was attributed to pseudo-hypertriglyceridemia consistent with glycerol kinase deficiency. Early visual impairment with nystagmus and pale optic discs were noted, and by 15 months the child exhibited global developmental delay, most pronounced in gross motor and language domains. This case illustrates the diagnostic challenges and clinical complexity of Xp21 contiguous gene deletion syndromes. In patients with Xp21 deletion syndrome, early molecular diagnosis enables timely hormone replacement, metabolic surveillance, cardiologic follow-up, and structured neurodevelopmental care. - Source: PubMed
Publication date: 2026/07/20
Frulenko IgnacyOstrowska IwonaPatalan MichałBertoli-Avella AidaLeón Nayla YPinto AndreiaBauer PeterLeśniak AlicjaKatuszonek DariaGlińska MartaModrzejewska MonikaŚmigiel RobertGiżewska Maria - Primary adrenal insufficiency (PAI) is a severe and potentially life-threatening condition characterised by the inability of the adrenal cortex to produce enough glucocorticoids and/or mineralocorticoids. The clinical signs of PAI are primarily due to deficient steroid hormone synthesis and include weight loss, orthostatic hypotension secondary to dehydration, hyponatremia, hyperkalaemia, and hypoglycaemia. In the paediatric population, PAI is most commonly associated with inherited monogenic disorders, particularly enzyme deficiencies. X-linked adrenal hypoplasia congenita (AHC) is a rare condition caused by deletions or single-nucleotide variants in the NR0B1 (DAX1) gene, which encodes the DAX1 protein expressed in the adrenal cortex, gonads, hypothalamus and pituitary gland. Although molecular genetics has significantly expanded our understanding of the aetiology of PAI, clinical diagnosis remains challenging when the initial hormonal findings are atypical, often delaying recognition and treatment. Pathogenic variants of DAX1 can lead to a spectrum of phenotypes, ranging from isolated adrenal insufficiency (AI) to complex syndromic presentations combining AI with hypogonadotropic hypogonadism and impaired spermatogenesis. Here, we report a case of a male patient with AI due to a de novo pathogenic variant in the NR0B1 gene. Furthermore, we provide a non-systematic review of the available literature on the diagnostic challenges facing and clinical variability in AHC, with a particular focus on the paediatric population. This case highlights the importance of a stepwise, comprehensive diagnostic approach to suspected PAI, particularly when initial biochemical and genetic testing is inconclusive. Considering rare causes-such as NR0B1 pathogenic variants in men-can be crucial for establishing a definitive diagnosis, with significant implications for the management of patients and their families. - Source: PubMed
Publication date: 2026/05/31
Montafia IlariaDimarakis SotiriosPartenope CristinaRabbone IvanaBellone SimonettaPetri AntonellaMellone SimonaGiordano MaraProdam Flavia