Recombinant Human Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific (NSD1), partial

1. Mutations in NSD1 or NSD2 are independent favorable prognostic biomarkers for laryngeal cancer. PMID: 29176703
2. Intratumoral heterogeneity (ITH) of NSD1 mutation in a colorectal cancers suggests that NSD1 mutation occurred during tumour progression rather than as an early event. PMID: 27020509
3. variable expression of the Sotos syndrome caused by NSD1 mutation PMID: 28457852
4. In this report, we described a new patient with Sotos syndrome caused by a 5q35 microdeletion spanning approximately 1.9 Mb in size and including the complete NSD1 gene PMID: 28328121
5. NSD1 Inactivation is associated with Clear Cell Renal Cell Carcinomas. PMID: 28754676
6. Nuclear receptor binding SET domain protein 1 (NSD1)duplication in 5q35 pathogenic variants could be detected in five out of 43 Silver-Russell syndrome (SRS) patients. PMID: 27172843
7. Study illustrates the dynamic behavior of the post-SET loop and the presence of a few distinct conformations for NSD1 protein. In every case, the post-SET loop remains in an autoinhibitory position blocking the peptide-binding cleft, suggesting that another interaction is required to optimally position NSD1 in an active conformation. PMID: 26940890
8. NSD1 mutation is associated with severe connective tissue laxity including aortic dilatation in Sotos syndrome. PMID: 26613968
9. NSD1 mutation is associated with Hyperinsulinemic hypoglycemia. PMID: 26487424
10. The genome-wide impact of a highly significant NSD1(+/-)-specific signature that differentiates pathogenic NSD1 mutations from controls, benign NSD1 variants and the clinically overlapping Weaver syndrome is described. PMID: 26690673
11. The results describe the binding of NSD1, 2 and 3 catalytic domains CD) on histone tails through recognition of histone-lysine and methylation properties. PMID: 25494638
12. NSD1 interacted with RNAPII and bound to GSTM3 -63A/C TATA box. PMID: 25193115
13. Acute myeloid leukemia can be reproduced in mice by transducing mouse mesenchymal stem cells with the human NUP98-NSD1 fusion and the FLT3-ITD mutated constracts. PMID: 24951466
14. This report describes, for the first time, a Korean family with two generations of Stotos syndrome resulting from a novel intragenic NSD1 mutation. PMID: 24795065
15. NSD1 prefers aromatic, hydrophobic, and basic residues at the -2, -1 and +2, and +1 sites of its substrate peptide in histone H3. PMID: 24412544
16. support to the adoption of screening for NUP98-NSD1 in pediatric AML without otherwise favorable genetic markers PMID: 23999921
17. NSD1 mutations that cause Sotos syndrome are loss-of-function, primarily truncating mutations or missense mutations at key residues in functional domains. EZH2 mutations that cause Weaver syndrome are primarily missense variants PMID: 23592277
18. NSD1 interaction with liganded NRs including ERa, AR, RARa, RXRa, TRb, PPARg and VDR is mediated by an LXXLL motif. Interaction with the NR2E/F subfamily including COUP-TFI, COUP-TFII, EAR2 and TLX requires an overlapping F/YSXXLXXL/Y motif. PMID: 23975195
19. We performed a genetic analysis for Sotos syndrome which revealed a heterozygous mutation on the exon 23 of NSD1. PMID: 23333153
20. NSD1 abnormalities were identified in 15 (83%) patients. Among them, eight patients (53%) had 5q35 microdeletions and the other seven patients (47%) had seven different NSD1 intragenic mutations including four novel mutations PMID: 23190751
21. data suggest that Sotos point mutations in NSD1 PHD domains disrupt its transcriptional regulation by interfering with its ability to bind epigenetic marks and recruit cofactors. PMID: 21972110
22. Our cases suggest a contiguous gene deletion syndrome including NSD1 and SLC34A1 and provide a potential genetic basis for idiopathic infantile hypercalcemia. PMID: 21597970
23. NUP98/NSD1 identifies a previously unrecognized group of young AML patients, with distinct characteristics and dismal prognosis, for whom new treatment strategies are urgently needed. PMID: 21813447
24. these finding exposes a key regulatory and recognition mechanism driven by the flexibility of a loop at the interface of the SET and postSET region in NSD1 protein. PMID: 21806967
25. The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. PMID: 21196496
26. NSD1 regulates RNAP II recruitment to BMP4, and failure to do so leads to reduced gene expression and abrogated levels of H3K36Me and CTD phosphorylation. PMID: 20837538
27. study describes two boys with Sotos syndrome in whom PCR amplification & direct sequencing of the NSD1 gene identified 2 novel mutations not previously described: c.4736dupG in exon 12 and c.3938_3939insT in exon PMID: 20420030
28. Data describe a NF-kappaB regulatory pathway that is driven by reversible lysine methylation of p65, carried out by nuclear receptor-binding SET domain-containing protein 1 (NSD1) and F-box and leucine-rich repeat protein 11 (FBXL11). PMID: 20080798
29. The genomic structure of NSD1 consists of at least 23 exons, the cDNA is 8552 bp long, contains at least six functional domains (SET, PWWP-I, PWWP-II, PHD-I, PHD-II, and PHD-III) and ten putative nuclear localization signals. PMID: 11733144
30. Haploinsufficiency of NSD1 causes Sotos syndrome PMID: 11896389
31. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes PMID: 12464997
32. A novel 1 base pair mutation in the NSD1 gene is the cause of familial Sotos syndrome in a Sotos syndrome family. PMID: 12525543
33. In 26 patients with Soto's syndrome 18 of the 20 microdeletions occurred prezygotically in the paternally derived chromosome 5, whereas those in the maternally derived chromosome were found in only two cases PMID: 12687502
34. In Sotos and Weaver syndromes mental retardation was consistently more severe in patients with NSD1 deletions. PMID: 12807965
35. fused to NUP98 and frequently transcribed in childhool AML PMID: 12931227
36. genetic susceptibility in Beckwith-Wiedemann syndrome; NSD1 could be involved in imprinting of the chromosome 11p15 region PMID: 14997421
37. NSD1(+/-) patients show endocrine and paracrine changes in the IGF system PMID: 15362962
38. Mutation or microdeletion of NSD1 is diagnostic of Sotos syndrome. PMID: 15365454
39. Haploinsufficiency of NSD1 is the major cause of Sotos syndrome, and NSD1 plays a role in growth and brain development in humans. PMID: 15539801
40. androgen signaling pathway might cross talk with apoptosis signaling pathway through the interaction between ARA267-alpha and DR6 PMID: 15623156
41. Deletion of Low-copy repeats that are centromeric and telomeric to NSD1 is associated with Sotos syndrome PMID: 15640245
42. analysis of 266 Sotos syndrome patients with NSD1 aberrations PMID: 15942875
43. REVIEW: mutational analysis in Sotos syndrome PMID: 16010675
44. NSD1 mutation patients showed less severe behavior problems and an easier temperament than NSD1 non-mutation patients, and ADHD was not a consistent finding in these patients. PMID: 16780628
45. The SET domain of NSD1 is involved in NIH3T3 cell growth by modulating serum dependence. PMID: 17437319
46. investigated the NSD1 cDNA sequence in genetically confirmed Sos patients harbouring truncating and missense mutations PMID: 17561922
47. confirms the heterogeneity of NSD1 alterations in Sotos syndrome and therefore the need to complete sequencing analysis by screening for partial deletions and duplications to ensure an accurate molecular diagnosis PMID: 17565729
48. study shows that NUP98-NSD1 induces acute myeloid leukemia in vivo, sustains self-renewal of myeloid stem cells in vitro, and enforces expression of the HoxA7, HoxA9, HoxA10 and Meis1 proto-oncogenes PMID: 17589499
49. Screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome. PMID: 18001468
50. Mutation analysis was performed in 4 patients with Sotos syndrome with typical phenotypic characteristics. In each of the 4 patients a NSD1 mutation was found (2 frame shifts, 1 nonsense and 1 missense mutation). PMID: 19039236

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HGNC: 14234

OMIM: 117550

KEGG: hsa:64324

STRING: 9606.ENSP00000395929

UniGene: Hs.106861