Gene Information from Publications |
| Publication Link |
Summary of findings |
| 17914445 |
There is a statistically significant difference in the frequency of second hit NF1 mutations in cafe au lait spots (CALM) melanocytes compared with CALM fibroblasts, and with CALM keratinocytes. |
| 12552569 |
Observational study of genetic testing. (HuGE Navigator) |
| 14722914 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 15146469 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 15389774 |
Observational study of gene-disease association. (HuGE Navigator) |
| 15523626 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 16380919 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 17102080 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18214791 |
The responsible gene and its protein product, neurofibromin have been identified. |
| 18086893 |
In addition to providing the first mechanistic insight into tissue-specific control of NF1 splicing, these studies establish a novel strategy whereby Hu proteins regulate RNA processing. |
| 18021924 |
This study identified 496delGT and 499delTGTT mutations in exon 4b and 5866delA as a new mutation in exon 31 (Human Gene Mutation Database accession number Hd0524). |
| 17514731 |
A C > T nucleotide change in exon 4b results in a change of glutamine to a stop codon (Q162X). It is a novel NF1 gene alteration. |
| 17726231 |
mutational spectrum of 22 unrelated Czech patients with neurofibromatosis type 1; study found NF1 mutations in 17 patients; twelve of the mutations were newly found |
| 17960768 |
The NF1 germline mutations identified in 22 lymphocytes DNA from these patients included seven novel mutations and a large 1.4-Mb deletion |
| 18055911 |
Of 23 deletions detected by MLPA, 6 were single exon, 8 were multi-exon, and 9 were of the entire NF1 gene, accounting for approximately 7% (14/201) of the NF1 gene mutation spectrum seen in a 201-patient Italian NF1 cohort. |
| 17876295 |
Intraneural injection of the cell line sNF96.2 expressing NF1 consistently produced MPNST-like tumors that were highly cellular and showed extensive intraneural growth. |
| 17216419 |
Variation in Nf1 levels is not responsible for the differences in astrocytoma and peripheral nerve sheath tumor susceptibility. |
| 17880527 |
Somatic down-regulation of mismatch repair proteins in nodular-trabecular muscle-invasive bladder urothelial carcinomas results in RB1/NF1 microsatellite abnormalities, correlating with higher cellular turnover and longer survival. |
| 17999360 |
5% of patients with neurofibromatosis type 1 (NF1) exhibit gross deletions that encompass the NF1 gene and its flanking regions. The breakpoints type 2 deletions are a second type of recurring NF1 gene deletion. |
| 17563086 |
we describe the use of loss of heterozygosity information in neurofibromas to obtain linkage information on the affected NF1 haplotype, which may be applied for prenatal testing in sporadic patients. |
| 17353900 |
Uniparental disomy surrounding the NF1 locus is associated with neurofibromatosis |
| 17404841 |
Results suggest that neurofibromin-deficient Schwann cells have dysregulated expression of pro-angiogenic factors, anti-angiogenic factors, growth factor receptors, and an integrin. |
| 16944271 |
This is the first reported occurrence of a gastric carcinoid tumour in a patient with NF1 in the absence of other predisposing factors. The carcinoid arose through NF1 gene inactivation but in the absence of an inherited NF1 gene microdeletion. |
| 16944272 |
169 unrelated individuals suspected of having neurofibromatosis type I (NF1) were referred for NF1 diagnostic testing. Possible disease causing mutations were identified in 109 (64%) cases. These comprised 88 sequence alterations, of which 57 were novel. |
| 17426081 |
NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of neurofibromatosis 1 |
| 11754043 |
Genotype analysis indicated families 7610 and 7473 bear deletions. |
| 11748857 |
Combination of analyses of loss of heterozygosity, southern blotting and southern blot densitometry can be used as a powerful method to detect large deletions, especially when family record is not available or the patient is a sporadic case. |
| 12707950 |
Neurofibromatosis-Noonan syndrome (NFNS) can in some cases result from different mutations in the NF1 gene. |
| 12152785 |
Differential NF1 patterns by interphase cytogenetics in malignant peripheral nerve sheath tumor and morphologically similar spindle cell neoplasms. |
| 16773574 |
results are the first to document double inactivation of NF1 in pseudoarthrosis tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1 |
| 17053831 |
in vitro-differentiated osteoclasts from NF1 patients also displayed elevated Ras/PI3K activity and increased lytic activity analogous to those in murine Nf1(+/-) osteoclasts |
| 17096025 |
Neurofibromin-deficient mouse embryonic fibroblasts (MEFs) and human NF1 tumor cells were more resistant than neurofibromin-expressing cells to apoptosis mediated by two survival pathways: a Ras-dependent pathway, and a Ras-independent pathway. |
| 12368469 |
In the cells haploinsufficient for NF1 we found an altered signal-to-noise ratio detectable as increased variation in dendrite formation. |
| 12746402 |
mutations and clinical spectrum in patients with spinal neurofibromas |
| 15096131 |
Neurofibromin 1 genetic alteration may play a part in the pathogenesis of neurofibromatosis type 1. |
| 12807981 |
Recurrent mutations are more common than previously described, being present in 45% of the patients in whom the NF1 causative mutation has been identified. |
| 13679444 |
LOH at NF1 may be one of the genetic features seen in peripheral nerve sheath tumors from different locations and should be interpreted with caution |
| 16467218 |
Connective tissue dysplasia is common in patients with NF1 microdeletions. |
| 16741618 |
the molecular pathogenesis of GISTs in NF1 patients is different from that in non-NF1 patients. |
| 11751683 |
Heterozygous astrocytes have decreased attachment, delayed actin cytoskeleton re-organization during cell spreading, and increased motility. |
| 11896214 |
This study demonstrated that NF1 mRNA belongs to a rare group of mRNAs that are not targeted to free polysomes or ribosomes of the rough endoplasmic reticulum. |
| 16835260 |
NF1 is a potent novel molecular target for inhibition of neurofibroma formation. |
| 15146469 |
NF1 mutational spectrum in the Italian population reporting four-year experience with the direct analysis of the whole NF1 coding region in 110 unrelated subjects affected by NF1 |
| 16835897 |
45 novel mutations within the NF1 gene are associated with neurofibromatosis type 1. |
| 15371411 |
ICSBP1 activates transcription of the gene encoding neurofibromin 1 |
| 12660952 |
NF1 microdeletion individuals have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion |
| 11934389 |
linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population |
| 15767669 |
TBP affects the NF1 and c-fos promoters in a manner reciprocal to that of TLF, stimulating the c-fos promoter and inhibiting NF1 transcription |
| 16005615 |
the NF1 gene is mutated in Chinese Han families with type 1 neurofibromatosis |
| 16914719 |
ICSBP tyrosine phosphorylation is necessary for the activation of NF1 transcription. ICSBP is a substrate for SHP2 protein tyrosine phosphatase (SHP2-PTP). |
| 12552569 |
Eighteen novel mutations have been found in a neurofibromatosis 1 cohort. |
| 12730209 |
mutual regulation of Ras and NF1-GAP is essential for normal neuronal differentiation |
| 12387455 |
probably does not have a role as tumor suppressor in sporadic pilocytic astrocytomas |
| 15988004 |
NF1 tumor suppressor gene is a direct transcriptional target of RUNX1 and the t(8;21) fusion protein, suggesting that suppression of NF1 expression contributes to the molecular pathogenesis of acute myeloid leukemia . |
| 16380919 |
NF1 mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. |
| 16908010 |
Overexpression of the NF1 GAP-related domain can at least partially reverse the transformation of human NF1 tumor-derived Schwann cells. |
| 11704931 |
spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene |
| 15583390 |
preliminary crystallographic characterization of a novel segment (homologous to the yeast Sec14p lipid exchange protein) from the neurofibromatosis type 1 protein |
| 14988005 |
NF-1 is actively transported to the cell nucleus. |
| 16081245 |
We now report that the same transition(GC-poor isochore to a GC-rich one in the NF1 gene region )zone separates early replicating from late replicating chromatin on the molecular level |
| 11857752 |
No correlation has been found between type, location or size of NF1 mutations and size or location of plexiform neurofibromas (PNFs), suggesting that many types of NF1 mutations may lead to development of PNFs. |
| 11727199 |
C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme |
| 11727265 |
mutation analysis of the NF1 gene in osteofibrous dysplasia |
| 15627836 |
We described a patient with ectropion and the mutation R1748X in the NF1 gene |
| 15735964 |
The differences between normal and NF1 keratinocytes were dependent on extracellular calcium concentration. |
| 12522551 |
nf1 gene is a mutational target in a mismatch repair-deficient cell and its inactivation is an important step of the malignant progression of MMR-deficient cells |
| 16138909 |
NF1 and Nkx2-5 might be involved in heart development and congenital heart disease |
| 12191989 |
the motor protein kinesin-1 links this protein and merlin in a common cellular pathway of neurofibromatosis |
| 15944227 |
We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. |
| 16405917 |
These novel findings provide insight into possible signaling mechanisms of Nf1 and suggest that together Nf1 and Cav-1 may coordinately regulate cell growth and differentiation. |
| 16470740 |
a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) is due to intronic sequence exonization [case report] |
| 16813595 |
Physiology, genetics and chemistry. Review. |
| 17160901 |
There is a correlation of a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype. |
| 17295913 |
significant proportion of NF1 exon 7 mutations affects pre-mRNA splicing |
| 12095621 |
Various new NF1 splice variants was described. Furhter insight into the significance of some of these variants is provided by accurate quantification of variant transcript levels in different human tissues. |
| 12963615 |
Mutations of the NF1 gene may occasionally play a role in the pathogenesis of uveal melanoma. |
| 12872266 |
novel NF1 point mutations, deletions, and frameshift mutations causing premature termination and aberrant splicing. |
| 16169856 |
NF1 siRNA induces morphological changes, such as excessive actin stress fiber formation, with elevated negative phosphorylation levels of cofilin, which regulates actin cytoskeletal reorganization by depolymerizing and severing actin filaments. |
| 16644864 |
NF1 is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells |
| 17200120 |
IRF8 cooperates with PU.1 and IRF-2 to activate a composite ets/IRF-cis element in the NF1 promoter |
| 17581973 |
Expression of human NF1 mutations and deletions in Drosophila mutants shows that GTPase-activating protein-related domain of NF1 is necessary and sufficient for long-term memory, whereas NF1 carboxyl-terminal domain is essential for immediate memory. |
| 12199909 |
NF1 tumor suppressor may function in the regulation of epidermal histogenesis via controlling the organization of the keratin cytoskeleton during the assembly of desmosomes and hemidesmosomes. |
| 12077339 |
Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation. |
| 14647436 |
new information concerning the transcriptional regulation of the NF1 gene, and the most thorough attempt to date to map functionally relevant regions within the NF1 proximal promoter region |
| 15233998 |
molecular evolution and genomic organization |
| 16479075 |
A genotype- phenotype correlation analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of the Neurofibromatosis type 1. |
| 16830335 |
Somatic loss of wild type NF1 allele is associated with neurofibromas |
| 12073021 |
report novel aberrant NF1 splicing, which is not random and affects only specific parts of the transcript across its length |
