Ask about this productRelated genes to: NR5A1 Blocking Peptide
- Gene:
- NR5A1 NIH gene
- Name:
- nuclear receptor subfamily 5 group A member 1
- Previous symbol:
- FTZF1
- Synonyms:
- FTZ1, SF-1, ELP, AD4BP, hSF-1, SF1
- Chromosome:
- 9q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-06-07
- Date modifiied:
- 2018-02-14
Related products to: NR5A1 Blocking Peptide
Related articles to: NR5A1 Blocking Peptide
- Hypospadias is one of the most common birth defects in China and a key feature of differences in sex development (DSD), yet its genetic etiology remains largely unresolved. Current diagnostic approaches using DSD-targeted gene panels have a low rate of definitive diagnoses (5.5%), highlighting the need for more comprehensive genetic investigation. In this study, we performed next-generation sequencing (NGS) on the largest trio-based cohort of hypospadias to date, comprising 106 pediatric cases and their parents (92 trios). We achieved a definitive genetic diagnosis in 6.6% of patients, identifying pathogenic variants in canonical DSD genes such as AR, NR5A1 and WT1. By incorporating a broader spectrum of potentially clinically significant variants, we increased the overall genetic identification rate to 33.0% (35/106). Strikingly, trio analysis uncovered a significant burden of de novo loss-of-function (LoF) variants (2.2-fold enrichment, P=0.001), primarily driven by variants in genes associated with ciliopathies (10.35-fold, P=0.016), a previously underappreciated gene class in hypospadias. Furthermore, we identified and functionally validated two high-confidence risk genes, PRKCZ and HRNR, based on recurrent de novo variants. Functional assays confirmed that these variants disrupt key biological mechanisms, including cell proliferation, migration, and androgen signaling. Our large-scale trio approach substantially expands the genetic landscape of hypospadias, demonstrates the critical value of trio-based sequencing for improving diagnostic yield, and decisively implicates ciliary genes in its pathogenesis. - Source: PubMed
Publication date: 2026/07/23
You YanqinLuo YingliuZhou HonghuiLiang QiaoweiXue JingjieLi ZhuoZhao YaowangHe TianquWang KexinWang HongyanChen ZhongzhongWu Lingqian - Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked disorder caused by pathogenic variants in the androgen receptor (AR) gene, leading to resistance to androgens in individuals with a 46, XY karyotype. - Source: PubMed
Publication date: 2026/08/03
Misgar Raiz AhmadUl Isam Mir SajadMasoodi Shariq RashidQadir AjazBhat Imtiyaz AhmadShah Zafar AminBashir Mir IftikharWani Arshad Iqbal - Differences of sex development (DSD) arise from disruptions in chromosomal, gonadal, or anatomical sex. Over the past 2 years, advances in sequencing technologies, enhancer biology, mitochondrial steroidogenesis, and sex-chromosome dosage effects have reshaped diagnostic and mechanistic understanding. This review synthesizes key discoveries and highlights their implications for clinical practice, including diagnostic pathways, endocrine surveillance, fertility counseling, and tumor-risk stratification. - Source: PubMed
Publication date: 2026/07/17
de Lapiscina Idoia MartinezKouri ChrysanthiFlück Christa E - The parabrachial nucleus (PBN) is an important hub located in the pons that relays sensory signals from peripheral regions. It is genetically diverse and contains many populations that modulate feeding and responses to threatening situations. A small -expressing population of neurons was identified that projects selectively to the ventromedial hypothalamus (VMH). The neurons are scattered throughout the lateral PBN with a cluster of cells along the border to the nucleus of the lateral lemniscus that overlap with and expression. Chemogenetic activation of PBN neurons results in induction in (SF1) and neurons in the VMH. Activation of PBN neurons or their terminals in the VMH reduces food intake after fasting and increases anxiety-like behaviors. In anxiogenic feeding assays, activation of PBN neurons increases latency to feed as well as reducing food intake. Photometry showed that PBN -neuronal activity increases during anxiogenic situations but is suppressed during food consumption, suggesting a role in threat-induced suppression of feeding. Silencing PBN neurons with tetanus toxin light-chain increased food intake and reduced anxiety. These findings reveal a genetically defined PBN to VMH circuit that responds to threats and suppresses feeding behavior. - Source: PubMed
Publication date: 2026/07/22
Pauli Jordan LPark SekunFelix Rachel RPalmiter Richard D - Is exome sequencing (ES) an efficient approach for simultaneous analysis of causative single gene defects and copy number variants (CNV) in unexplained premature ovarian insufficiency (POI)? - Source: PubMed
Publication date: 2026/06/17
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