NF1 Antibody, Biotin conjugated

1. A genotype-phenotype correlation has been established within the NF1 region 844-848. This correlation is valuable for managing and providing genetic counseling to a considerable number of individuals. PMID: 29290338
2. Our research has demonstrated that mutations in SMAD4 and NF1 can serve as potential biomarkers for predicting poor prognosis to cetuximab-based therapy in Chinese patients with metastatic colorectal cancer. PMID: 29703253
3. Two recurrent variants, c.269T>C (p.Leu90Pro) and a novel nonsense variant c.2993dupA (p.Tyr998*), in the NF1 gene have been identified in two Chinese families with neurofibromatosis type 1. PMID: 30046999
4. Deletion of NF1 results in mutant oligodendrocyte precursor cell (OPC) expansion through increased proliferation and decreased differentiation. Deletion of p53 hinders OPC senescence. Signaling analysis revealed that while PI3K and MEK pathways undergo stepwise over-activation, mTOR signaling remains at the basal level in pre-transforming mutant OPCs but is abruptly up-regulated in tumor OPCs. PMID: 29392777
5. Our comprehensive analysis of 17 susceptibility genes revealed somatic mutations in over 50% of pheochromocytomas and paragangliomas (PPGL). We confirmed the high frequency of NF1 somatic mutations and identified KIF1B as the second most frequently mutated gene in PPGL tissues. PMID: 28515046
6. Novel mutations in exon 4 and exon 7 of the NF1 gene were identified in these families. These mutations correlate with genotype-phenotype characteristics, explaining the neurofibromatosis type 1 and peripheral nerve sheath tumors observed in these patients. PMID: 29680440
7. A novel causative NF1 mutation (c.6547_6548insA) was identified in a Chinese family with NF1. PMID: 28230002
8. The somatic second hit in the NF1 gene sensitizes Schwann cells to sex hormones, leading to a significantly increased proliferation rate. PMID: 29185159
9. This study retrospectively re-evaluated all NF1 gene variants discovered over 17 years of diagnostic activity and selected all mutations not previously reported in international databases or medical literature. These mutations were categorized according to five pathogenetic classes, analyzed for their type, and their distribution within the exons of the NF1 gene and the domains of the corresponding protein. PMID: 28961165
10. NF1 gene mutation is associated with neurofibromatosis type 1. PMID: 27980226
11. The high frequency of somatic NF1 mutations observed in sporadic tumors suggests that neurofibromin likely plays a crucial role in development beyond its role in the tumor predisposition syndrome Neurofibromatosis type 1. [Review] PMID: 28637487
12. These findings provide a mechanism by which miR-107 regulates NF1 in gastric cancer (GC), highlighting the significance of the interaction between miR-107 and NF1 in GC development and progression. PMID: 27827403
13. This review examines neurofibromin with particular attention to keratinocytes, melanocytes, NF1-related tumors, and melanoma. [review] PMID: 27622733
14. Data suggest that telomere length may play a role in driving genomic instability and clonal progression in neurofibromatosis type 1 neurofibromin 1 (NF1)-associated malignant peripheral nerve sheath tumors (MPNSTs). PMID: 28454108
15. Findings indicate neurofibromin 1 (NF1) as the most frequent driver mutation in mucosal melanoma. RAS alterations, including NRAS and KRAS mutations, were the second most frequent mutation type. PMID: 28380455
16. Mutation in the NF1 gene is associated with mucosal melanoma. PMID: 28296713
17. Results demonstrate that the NF1 protein negatively regulates Ccl5 expression by suppressing AKT/mTOR signaling. PMID: 28380429
18. The fusion transcript encodes a protein in which the last 114 amino acids of SETD2, encompassing the entire Set2 Rpb1 interacting (SRI) domain of SETD2, are replaced by 30 amino acids encoded by the NF1 sequence. PMID: 28498454
19. These studies highlight the ability of miR-10b to activate the expression of c-Jun through RhoC and NF1, identifying a novel pathway for promoting migration and invasion of human cancer cells. PMID: 27494896
20. This study identifies a novel cohort of non-small cell lung cancer characterized by NF1 mutation, suggesting that current therapeutic targeting strategies for KRAS tumors may also be effective in this population. PMID: 26861459
21. Three patients with urachal adenocarcinoma exhibited neurofibromin 1 (NF1) mutations. PMID: 27078850
22. The human nonsense NF1(Arg681*) and missense NF1(Gly848Arg) mutations have distinct effects on neurofibromin expression in the mouse. Each mutation recapitulates unique aspects of the NF1 phenotype. PMID: 27482814
23. The NF1 phenotype and genotype were similar between children with and without Moyamoya syndrome (MMS). Notably, three children experienced tumors with malignant histology or behavior. The presence of two first cousins in this cohort suggests that there may be potential genetic factors, not linked to NF1, that play an additional role alongside NF1 in MMS pathogenesis. PMID: 28422438
24. The NF1-mutated subtype of melanoma exhibited a higher mutational burden and the strongest ultraviolet rays mutation signature. PMID: 28267273
25. A revised exon nomenclature system for NF1 is proposed, based on the CDS coordinates of NM_000267.3ENST00000356175.7. This nomenclature differs from the one currently used in the clinical community and represented on the Locus Reference Genomic sequence LRG_214/NG_009018.1. PMID: 28804759
26. Comprehensive genetic analysis reveals the primacy of NF1 loss as the driving force behind peripheral nerve tumorigenesis. PMID: 28068329
27. In a coclinical trial investigating the influence of the tumor microenvironment on the response to multiagent chemotherapy, we found that stromal Nf1 status had no discernible effect. PMID: 28646022
28. Loss of NF1 is associated with the pathogenesis of malignant peripheral nerve sheath tumor. PMID: 27477693
29. Low NF1 expression is associated with Triple-Negative Breast Cancer. PMID: 28108518
30. Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma. PMID: 27862886
31. This report documents the incidence of NF1 mutations/allelic loss in desmoplastic melanoma and suggests that the DM subtypes have distinct genetic drivers. PMID: 26980030
32. The EVH1 domain of Spred1 binds to the noncatalytic portion of the GAP-related domain of neurofibromin. PMID: 27313208
33. Loss of the NF1 gene is associated with malignant peripheral nerve sheath tumors. PMID: 28124441
34. This study discovered that NF1 negatively regulates mTOR signaling in a LAMTOR1-dependent manner. Furthermore, the cell growth and survival of NF1-deficient cells have become dependent on hyperactivation of the mTOR pathway, and the tumorigenic properties of these cells have become reliant on LAMTOR1. PMID: 28174230
35. Mutations in neurofibromin 1 (NF1) are prevalent in cancer, including melanoma. Targeting NF1-regulated pathways presents potential therapeutic options for the treatment of NF1 and melanoma. PMID: 28067895
36. Homozygous Stat5 deficiency extended the lifespan of Nf1-deficient mice and eliminated the development of myeloproliferative neoplasm associated with Nf1 gene loss. PMID: 27418650
37. This review summarizes current knowledge regarding genotype-phenotype relationships in patients with NF1 microdeletions and discusses the potential role of genes located within the NF1 microdeletion interval. Haploinsufficiency of these genes may contribute to the more severe clinical phenotype. PMID: 28213670
38. A pathological role of the c.853_854insTC mutation has been suggested. PMID: 27374410
39. Notch is an Nf1 effector. PMID: 28423318
40. The results from our work indicate that the molecular basis of NF1 splicing mutations is diverse. Therefore, molecular characterization at both the gDNA and mRNA levels allowed for a better understanding of gDNA-mRNA correlations of NF1 mutations. PMID: 27074763
41. A novel frameshift mutation co-segregated with the disease, leading to diverse phenotypes among affected members of a Chinese family. PMID: 27234610
42. Findings suggest that the Neurofibromatosis 1-Noonan syndrome (NFNS) phenotype may result from both a genetic factor (mutation in the neurofibromin 1 gene, NF1) and an epigenetic/environmental factor. PMID: 27107091
43. The findings of this study indicate that most childhood NF1-associated low-grade gliomas are midline and benign in nature. However, hemispheric NF1-related gliomas may exhibit more aggressive biological and clinical behavior. PMID: 27659822
44. The utilization of Next Generation Sequencing has proven to be effective in terms of cost and analysis time. This approach enabled us to identify a patient with NF1 mosaicism. PMID: 27838393
45. Her-2, N-ras, and Nf1 play roles in brain oncogenesis. PMID: 27630302
46. A significant correlation between neurofibromin expression and colorectal tumor localization was discovered. Tumors arising in the colon showed intense NF expression more frequently than those arising in the rectum. Higher expression of NF was more common in tumors not responding to treatment. Additionally, tumors with multiple metastases exhibited higher expression of NF than those with single metastasis. PMID: 27798892
47. Mutation in the NF1 gene is associated with Neurofibromatosis-Noonan Syndrome. PMID: 26758488
48. The computational model results provided credibility to the experimental hypothesis of a genetic cause (i.e., Nf1 mutation) for Congenital pseudarthrosis of the tibia. PMID: 26822862
49. The pattern of growth differs considerably in deletion and non-deletion neurofibromatosis 1 patients. The pathogenic basis for this difference remains unknown. PMID: 26111455
50. Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions has been reported. PMID: 26614388

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HGNC: 7765

OMIM: 114500

KEGG: hsa:4763

STRING: 9606.ENSP00000351015

UniGene: Hs.113577