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NF1


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Gene DB Home
Symbol:NF1
Name(s):neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
Type:protein-coding
Organism:Homo sapiens
Synonyms:DKFZp686J1293, NFNS, VRNF, WSS
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

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.

View more information from publications.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDNMDA receptor 1 isoform NR1-3 precursorHuman neurofibromin gene, and translated products--Pubmed
HPRDH-RasHuman neurofibromin gene, and translated products--Pubmed
HPRDv-Ha-ras Harvey rat sarcoma viral oncogene homolog isoform 1Neurofibromatosis type I--Pubmed
HPRDNeurofibromatosis type IDNAJC7 protein--Pubmed
HPRDHuman neurofibromin gene, and translated productsDnaJ homolog subfamily C member 7--Pubmed

Recent Publications on NF1:

Pubmed Logo
Multiple gastrointestinal stromal tumors in neurofibromatosis type 1: Report of a case.
This report presents a case of multiple gastrointestinal stromal tumors...
3rd November, 2009
Department of Gastroenterological Surgery, Kumamoto University, 1-1-1 Surg Today. 2009;39(11):979-83. Epub 2009 Nov 1.
DOI Direct Link
[Usefulness of systematic brain magnetic resonance imaging in children with neurofibromatosis type 1.]
BACKGROUND AND AIM: The aim of this study was to evaluate the usefulness...
30th October, 2009
Service de neurologie pediatrique, hopital Femme-Mere-Enfant, hospices Arch Pediatr. 2009 Oct 26.
DOI Direct Link
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.
Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M,...
30th October, 2009
Department of Clinical Physiopathology, Medical Genetics Unit, University Clin Genet. 2009 Oct 23.
DOI Direct Link
[Hereditary diseases with propensity to myeloid malignancy]
Hematological malignancy is known to be associated with Down syndrome...
29th October, 2009
Department of Pediatrics, Nihon University School of Medicine. Nippon Rinsho. 2009 Oct;67(10):1884-8.
Plurifocal malignant peripheral nerve sheath tumor demonstrated by 18F-fluorodeoxyglucose positron emission tomography/computed tomography.
Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas that derive...
27th October, 2009
Department of Nuclear Medicine, Spedali Civili di Brescia, Piazza Spedali Jpn J Radiol. 2009 Oct;27(8):320-3. Epub 2009 Oct 27.
DOI Direct Link

View more research publications.

Press Releases on NF1:

BioPortfolio Logo
Novo Nordisk publish data demonstrating proof of concept for potassium 1st November, 2003 Dailyupdates

Novo Nordisk publish data demonstrating proof of concept for potassium channel openers as

BioNews Results for NF1

: RSS Logo
BioPortfolio Logo
Two genes cooperate to cause aggressive Leukemia
Bottom Line:  Nov 11 2009 12:18AM Matching: nf1
Findings May Spur Development of Drugs to Treat Brain Tumors in Infants
Biotech Daily:  Nov 9 2009 4:22PM Matching: nf1
Two genes co-operate to cause aggressive leukaemia
Innovations Report:  Nov 4 2009 5:06AM Matching: nf1
Two Genes Co Operate To Cause Aggressive Leukaemia
Medical News Today:  Nov 4 2009 8:25PM Matching: nf1
Research shows gene interaction can cause aggressive leukaemia
Cordis:  Nov 4 2009 3:54PM Matching: nf1
Promote your company here: BioNewsCast - Press Release Distribution

View more news.

Clinical Trials:

Clinical Trials Logo
Trial to Evaluate the Safety of Lovastatin in Individuals With Neurofibromatosis Type I (NF1)

Patents:

Patents logo
US Patent No.Title
7510881 Method and kit for the quantitative and/or qualitative detection of components in a sample
7541446 Tet repressor-based transcriptional regulatory proteins
7547687 Therapeutic treatment methods
7550141 Methods for imaging tumor vasculature using conjugates that bind to aminophospholipids
7550262 PTPN11 (SHP-2) mutations and cancer

View more patents.

NF1 results (if any) from reagent suppliers

Google CSE Logo
NF-1 Antibody / NF-1 Antibodies
NF-1 Antibody / NF-1 Antibodies. ... NF-1 specific siRNA, sHRNA Plasmid and shRNA Lentiviral Particles gene silencers are also available. ...
http://www.scbt.com/table-nf-1.html...

Thumbshot
Phospho-NF1-S2515 Antibody
Dot blot analysis of Phospho-NF1-S2515 Phospho-specific Pab (Cat.AP3327a) on nitrocellulose membrane. 50ng of Phospho-peptide or Non Phospho-peptide per dot
...
http://www.abgent.com/products/catalog_no/AP3327a_Phospho_NF...

Thumbshot
Neurofibromin (D) Antibody sc-67
Immunoexpression of Neurofibromin, S-100 protein, and Leu-7 and mutation analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia. Human
Pathology. ...
http://www.scbt.com/datasheet-67-neurofibromin-d-antibody.ht...

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NSEP1 antibody, NSEP1 Antibody, Rabbit Polyclonal Antibody
Synonym Names for NSEP1 antibody: NSEP1; BP-8, CSDB, DBPB, MDR-NF1, MGC110976, NSEP-1, YB-1, YB1, YBX1; Y-box-binding protein 1; Y-box transcription factor;
...
http://www.genwaybio.com/product_info.php?products_id=42521...

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Neurofibromin (N) Antibody sc-68
Characterization of functional elements in the neurofibromatosis (NF1) proximal ... Dynamic regulation of the Ras pathway via proteolysis of the NF1 tumor ...
http://www.scbt.com/datasheet-68-neurofibromin-n-antibody.ht...

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Antibodies to Axon Guidance and Neuronal Development
NF1(4763) rat ... Nf1(24592) mouse ... Nf1(18015), mouse, human, rat, ARR, IHC, WB, pricing. N3287, Monoclonal Anti-Neuropilin-1 antibody produced in mouse ...
http://www.sigmaaldrich.com/etc/controller/controller-page.h...

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Neurofibromin (McNFn27a) Antibody sc-20017
Western blot analysis of Neurofibromin expression in NF1 knockout (A), rat (B) and human (C) Schwann cells. Kindly provided by Dr. David Muir, University of
...
http://www.scbt.com/datasheet-20017-neurofibromin-mnnfn27a-a...

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