Recombinant Human Neurofibromin (NF1), partial

1. A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals. PMID: 29290338
2. Our results demonstrated that SMAD4 and NF1 mutations can serve as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese mCRC patients. PMID: 29703253
3. A recurrent missense variant c.269T>C (p.Leu90Pro) and a novel nonsense variant c.2993dupA (p.Tyr998*) in the NF1 gene were identified in two Chinese families with neurofibromatosis type 1. PMID: 30046999
4. Deletion of NF1 leads to mutant oligodendrocyte precursor cell (OPC) expansion through increased proliferation and decreased differentiation, the deletion of p53 impairs OPC senescence. Signaling analysis showed that, while PI3K and MEK pathways go through 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. In conclusion, using a panel including 17 susceptibility genes, we documented the presence of 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 the exon 4 and exon 7 of NF1 gene in these families correlating with genotype-phenotype characters explaining the neurofibromatosis type 1 and peripheral nerve sheath tumours condition in these patients. PMID: 29680440
7. identified a novel causative NF1 mutation (c.6547_6548insA) in a Chinese family with NF1 PMID: 28230002
8. the somatic second hit in the NF1 gene sensitizes Schwann cells to sex hormones resulting in a highly increased proliferation. PMID: 29185159
9. This study retrospectively re-evaluated all NF1 gene variants found in 17 years of diagnostic activity and selected all the mutations not reported in the international databases or in the medical literature. Those latter were stratified according to the five pathogenetic classes, analyzed for their type and their distribution in the exons of the NF1 gene and in the domains of the relative protein. PMID: 28961165
10. NF1 gene mutation is associated with neurofibromatosis type1. PMID: 27980226
11. The identification of high frequency of somatic NF1 mutations in sporadic tumours indicates that neurofibromin is likely to play a critical role in development, far beyond that evident in the tumour predisposition syndrome Neurofibromatosis type 1. [Review] PMID: 28637487
12. findings provide a mechanism by which miR-107 regulates NF1 in GC, as well as highlight the importance of interaction between miR-107 and NF1 in GC development and progression PMID: 27827403
13. review of neurofibromin with special attention to keratinocytes, melanocytes, NF1-related tumors and melanoma [review] PMID: 27622733
14. Data indicate 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 frequently occurring driver mutation in mucosal melanoma, and RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type. PMID: 28380455
16. Mutation in NF1 gene is associated with mucosal melanoma. PMID: 28296713
17. Results show that the NF1 protein negatively regulates Ccl5 expression through suppression of AKT/mTOR signaling. PMID: 28380429
18. The fusion transcript codes for a protein in which the last 114 amino acids of SETD2, i.e., the entire Set2 Rpb1 interacting (SRI) domain of SETD2, are replaced by 30 amino acids encoded by the NF1 sequence. PMID: 28498454
19. this studies show the ability of miR-10b to activate the expression of c-Jun through RhoC and NF1, which represents 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 defined by NF1 mutation and suggests that ongoing therapeutic targeting strategies for KRAS tumors may also have efficacy in this population. PMID: 26861459
21. 3 patients with urachal adenocarcinoma had neurofibromin 1 (NF1) mutations PMID: 27078850
22. the human nonsense NF1(Arg681*) and missense NF1(Gly848Arg) mutations have different effects on neurofibromin expression in the mouse and each 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). Interestingly, three children experienced tumors with malignant histology or behavior. The presence of two first cousins in our cohort suggested that there may be potential genetic factors, not linked to NF1, with an additional role respect of NF1 might play a role in MMS pathogenesis PMID: 28422438
24. the NF1-mutated subtype of melanoma had a higher mutational burden and 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 one in active use 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 driver of PN tumorigenesis. PMID: 28068329
27. In a coclinical trial to examine how the tumor microenvironment influences the response to multiagent chemotherapy, we found that stromal Nf1 status had no effect. PMID: 28646022
28. Loss of NF1 is associated with 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. Report incidence of NF1 mutations/allelic loss in desmoplastic melanoma and suggest 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 NF1 gene is associated with malignant peripheral nerve sheath tumors. PMID: 28124441
34. Study found that NF1 negatively regulates mTOR signaling in a LAMTOR1-dependent manner. In addition, 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 dependent on LAMTOR1. PMID: 28174230
35. Mutations in neurofibromin 1 (NF1) are common in cancer, including melanoma, and targeting NF1-regulated pathways offers potential therapeutic options for the treatment of NF1 and melanoma. PMID: 28067895
36. found that 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. summarise current knowledge about genotype-phenotype relationships in NF1 microdeletion patients and discuss the potential role of the genes located within the NF1 microdeletion interval whose haploinsufficiency may contribute to the more severe clinical phenotype PMID: 28213670
38. pathological role of c.853_854insTC mutation suggested PMID: 27374410
39. Notch is an Nf1 effector. PMID: 28423318
40. the results from our work show 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 diverse phenotypes among the affected members of a Chinese family. PMID: 27234610
42. Results suggest that the Neurofibromatosis 1-Noonan syndrome (NFNS) phenotype may be the result of both a genetic factor of mutation in the neurofibromin 1 gene (NF1) and an epigenetic/environmental factor. PMID: 27107091
43. The findings of this study suggest that the most childhood NF1-associated low-grade gliomas are midline and benign in nature, hemispheric NF1-related gliomas may have a more aggressive biological and clinical behavior. PMID: 27659822
44. The use of Next Generation Sequencing has proven to be effective as for costs, and time for analysis, and it allowed us to identify a patient with NF1 mosaicism. PMID: 27838393
45. Her-2, N-ras and Nf1 have roles in brain onocogenesis PMID: 27630302
46. A significant correlation between neurofibromin expression and colorectal tumor localization was found, with tumors arising in the colon showing intense NF expression more often than those arising in the rectum; higher expression of NF was more common in tumors not responding to treatment; and tumors with multiple metastases showed 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 have added 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 substantially in deletion and non-deletion neurofibromatosis 1 patients, but the pathogenic basis for this difference is 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