Ask about this productRelated genes to: NSD1 antibody
- Gene:
- NSD1 NIH gene
- Name:
- nuclear receptor binding SET domain protein 1
- Previous symbol:
- STO
- Synonyms:
- ARA267, FLJ22263, KMT3B
- Chromosome:
- 5q35.3
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-25
- Date modifiied:
- 2019-04-23
Related products to: NSD1 antibody
Related articles to: NSD1 antibody
- NUP98 rearrangements define a high-risk, genetically heterogeneous subtype of paediatric acute myeloid leukaemia (AML), yet comprehensive clinicogenetic and survival data remain limited. This retrospective, single-centre study of 32 paediatric patients (2017-2025) found a median age of 8.7 years and predominance of the NUP98::NSD1 fusion (68.8%), frequently co-mutated with FLT3-ITD (50%) and WT1 (43.8%). Complete remission (CR) rates increased from 53.1% to 87.5% after first and second induction. With a median follow-up of 41.7 months, the estimated 3-year overall survival (OS), event-free survival (EFS) and cumulative incidence of relapse (CIR) were 81.2% (95% confidence interval [CI], 65.9%-96.5%), 62.8% (95% CI, 43.8%-81.8%) and 28.1% (95% CI, 12.9%-45.6%), respectively; corresponding rates among the 29 transplanted patients were 79.8% (95% CI, 63.5%-96.1%), 68.7% (95% CI, 50.3%-87.1%) and 26.0% (95% CI, 11.1%-43.9%) respectively. Exploratory multivariate analysis identified failure to achieve CR after induction 2 as a risk factor for OS, WT1 mutation for relapse in the entire cohort and pretransplant minimal residual disease (MRD) positivity for relapse in the transplant subgroup. This confirms that NUP98-rearranged AML necessitates intensive therapy including transplant and highlights WT1 and pretransplant MRD as key prognostic markers for risk-adapted strategies. - Source: PubMed
Publication date: 2026/04/28
Zhang Zhi-XiaoZhang LinLu Ai-DongZhang Le-PingJia Yue-PingZeng Hui-Min - Virtual screening is a critical step in computer-aided drug discovery. As synthetic databases and reaction schemes expand, the number of synthesizable compounds grows, making efficient screening essential. The success of ultra-large-scale virtual screening hinges on two factors: accuracy in binding affinity prediction and speed. We previously developed AK-Score2 for accurate protein-ligand binding prediction and V-Dock for estimating docking scores. Here, we present Docking of Millions (DoM), an ultra-large-scale virtual screening system integrating both methods. Iterative learning of V-Dock to approximate AK-Score2-based affinities accelerates screening by eliminating the need to dock all compounds, saving time and resources. In benchmarking, screening 5 million compounds against DDR1, c-kit, ASK1, NSD1, CREBBP, and PDE5, DoM consumed only 319 h on average, 12% of full library screening time. Also, it achieved an average retrieval rate of 89% in the top 100 compounds. Inhibition assays identified that 1 out of 27 and 4 out of 31 molecules suppressed ASK1 and DDR1 activity by more than 50% at 10 μM. Further validation of selected compounds identified that the lowest IC50 values are 1.96 μM and 788 nM for ASK1 and DDR1, respectively. These findings demonstrate DoM as a practical and efficient platform for real-world drug discovery. - Source: PubMed
Ha JunsuLee JuyongKo JunsuShin Woong-Hee - - Source: PubMed
Publication date: 2026/03/17
Borja Nicholas ASule AnujaMcMullen Katie AnnDhir AditiHall Matthew DMcCrea Heather JGultekin Sakir HumayunTekin MustafaGampel Bradley - Sotos syndrome previously known as cerebral gigantism is a genetic disease characterized by excessive growth from the prenatal stage to childhood, accompanied with distinctive facial dysmorphism (broad and prominent forehead, hypertelorism, downward-slanting palpebral fissures, and a pointed chin), advanced bone age, macrocephaly, congenital malformations (heart defects, seizures, scoliosis, increased tumor susceptibility) and developmental delay (speech delay, learning disabilities, infantile hypotonia). Most cases of Sotos syndrome (90%) are linked to heterozygous mutations of the NSD1 gene. Here we reported the first case of Sotos syndrome from Senegal, confirmed by genetic testing. We detected a novel heterozygous mutation in exon 5 of the NSD1 gene in the index case, resulting in a frameshift and a premature stop codon (NM_022455): c.2306dup: (p.Gly771Trpfs*38). This mutation occured de novo in the index case and was not detected in either parent. Further studies are needed to explore genotype-phenotype correlations and potential targeted therapies. - Source: PubMed
Publication date: 2025/12/23
Diop Jean Pascal DembaMbaye AminataDiallo KarambaPasmant EricBa Seydi AbdoulSene AdamaVideau MicheleNdiaye Diallo Rokhaya - Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay. We describe a 43-month-old Korean girl born at 36 + 1 weeks with intrauterine growth restriction (birth weight 2200 g, length 46 cm, occipitofrontal circumference 42 cm). At presentation, all growth parameters were below the 10th percentile, with dysmorphic features including epicanthal folds, telecanthus, and a wide nasal bridge. She walked at 14 months but had an approximately 25-month language delay. Chromosomal microarray revealed a de novo 1.8 Mb duplication at 5q35.2q35.3 encompassing NSD1, classified as pathogenic (triplosensitivity score 3). A growth hormone (GH) stimulation test confirmed deficiency (peak GH 9.87 and 6.42 ng/mL). Recombinant human GH therapy (0.033 mg/kg/day) improved growth to the 5-10th percentile after 6 months. This is the first reported Korean case of 5q35.2q35.3 duplication with reversed Sotos phenotype and GH deficiency, which expands the endocrine spectrum of the disorder and underscores the need for early genetic testing and endocrine evaluation. [Correction added after first online publication on 23 March 2026: The dosage of rGH therapy was corrected from "0.1 IU/kg/day" to "0.033 mg/kg/day.]. - Source: PubMed
Publication date: 2026/03/10
Kim SejinHa Jung SookByun Jun Chul