Ask about this productRelated genes to: NR0B1 Blocking Peptide
- 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 Blocking Peptide
Related articles to: NR0B1 Blocking Peptide
- Pathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype-phenotype variability persists. - Source: PubMed
Publication date: 2026/04/24
Tian LangMei JieZheng XiDai Hong-Mei - To characterize the molecular spectrum of NR0B1 variants associated with X-linked congenital adrenal hypoplasia (X-hypoAC) in a multicenter Brazilian cohort and to highlight the clinical implications of early molecular diagnosis. - Source: PubMed
Publication date: 2026/04/07
Esquiaveto-Aun Adriana Manguede Lemos-Marini Sofia Helena ValenteGuaragna Mara SanchesMazzola Taís Nitschde Ferran KarinaBerardo Renata SzundyGilban Daniel Luis SchueftanSchnaider Gabrielle SormantiKopacek CristianeMadeira Isabel ReyNascimento Marilza Lealde Mello Maricilda PalandiGuerra-Junior Gil - Natural light is severely affected by human impact on Earth, yet little is known about the roles light receptors have outside vision and rhythmic processes, despite their tremendously wide abundance. Here we show that loss-of-function of the () in marine bristleworms significantly increases lifespan and adult size, similarly to wild-types reared in constant darkness. Quantitative transcriptomics revealed hormonal players crucial for invertebrate and vertebrate sexual development and reproduction affected in mutants. These include , ortholog of () and (), long considered vertebrate novelties. Depending on moon-phase, is up- or down-regulated in mutants. Matching the complex regulation, data consistent with loss of function partially recapitulate phenotypes. Molecularly, Nr0b1/2 affects steroidogenic and other endocrine pathways, nuclear receptor signaling, and transcription factor orthologs involved in sexual developmental, reproductive, and timing processes in other organisms. Thus, our study suggests profound and direct effects of light on adult animal life-time, likely at least in part via conserved endocrine pathways involved in sexual maturation and reproduction in annelids and vertebrates. - Source: PubMed
Publication date: 2026/03/19
Andreatta GabrieleScaramuzza FedericoĆorić AidaOrel LukasMat Audrey MTakekata HirokiPoehn BirgitMilivojev NadjaTessmar-Raible Kristin - The adrenal cortex produces essential steroid hormones through a concentric zonal architecture, established by the centripetal transdifferentiation of subcapsular progenitors within a capsule-derived niche. To capture this complexity, we establish a human pluripotent stem cell-derived adrenal organoid system that faithfully recapitulates this process. RSPO3/WNT signaling from the capsule specifies definitive zone (DZ) progenitors from the adrenal primordium, which then differentiate into a cortisol-producing transitional zone and an androgen-producing fetal zone under the influence of RSPO3 and ACTH. Loss of NR0B1 impairs DZ specification and triggers direct adrenal primordium-to-fetal zone conversion, mirroring the mechanism of X-linked adrenal hypoplasia congenita. When DZ cells are encapsulated with capsule cells separately derived from pluripotent stem cells, they reconstitute zonation in vivo, forming ACTH-responsive tissue that produces both cortisol and androgens. This organoid platform offers a powerful tool to dissect human adrenal development and establishes a foundation for regenerative therapies targeting adrenal diseases. - Source: PubMed
Mayama MichinoriWhelan Eoin CSato TakeshiStouffer David GLeu Adrian NStrauss Jerome FAuchus Richard JSasaki Kotaro - X-linked congenital adrenal hypoplasia (X-linked AHC) is a rare endocrine disorder causing primary adrenal insufficiency (PAI) and often associated with hypogonadotropic hypogonadism (HH). We report a 23-year-old male with early-onset PAI, normal puberty, and azoospermia despite normal testosterone levels. Whole-exome sequencing revealed a novel pathogenic variant (c.625C>T; p.Gln209). also known as DAX1, is critical for adrenal and gonadal development, and animal models suggest that Sertoli cell dysfunction is a key mechanism of infertility, occurring independently of gonadotropin or androgen deficiencies. Taken together, this case expands the clinical spectrum of -related disease and underscores the importance of early genetic testing and consideration of this diagnosis even in patients with X-linked AHC and atypical presentations. - Source: PubMed
Publication date: 2026/02/25
Meireles Andressa RochaDrummond Juliana BeaudetteAbreu Ana PaulaSoares Beatriz Santana