Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene

Meena Upadhyaya; Michael J. Osborn; Julie Maynard; Mee Rhan Kim; Fuyuhiko Tamanoi; D.N. Cooper

doi:10.1007/s004390050317

Keywords

Neurofibromin 1BiologyMissense mutationGeneticsExonNeurofibromatosisMutantGeneNonsense mutationLocus (genetics)Gene productMutationMolecular biologyGene expression

Affiliated Institutions

Related Publications

Exhaustive mutation analysis of theNF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Ludwine Messiaen , Tom Callens , Geert Mortier +5 more

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to the large ...

2000 Human Mutation 496 citations

Homozygous Inactivation of the<i>NF1</i>Gene in Bone Marrow Cells from Children with Neurofibromatosis Type 1 and Malignant Myeloid Disorders

Lucy Side , Brigit R. Taylor , Matthew C. Cayouette +4 more

Both alleles of the NF1 gene are inactivated in leukemic cells in some patients with neurofibromatosis type 1. NF1 appears to function as a tumor-suppressor gene in immature mye...

1997 New England Journal of Medicine 288 citations

Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours.

Gundula Thiel , Karola Marczinek , Regina Neumann +3 more

The increased frequency of glioma among neurofibromatosis 1 (NF1) patients suggests a general involvement of the NF1 gene in glioma tumourigenesis. Using the methodology of conv...

1996 PubMed 21 citations

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Raimund Fahsold , Sven Hoffmeyer , Claudia Mischung +10 more

2000 The American Journal of Human Genetics 305 citations

Common Pathogenetic Mechanism for Three Tumor Types in Bilateral Acoustic Neurofibromatosis

Bernd R. Seizinger , Guy A. Rouleau , Laurie J. Ozelius +5 more

Bilateral acoustic neurofibromatosis (BANF) is a genetic defect associated with multiple tumors of neural crest origin. Specific loss of alleles from chromosome 22 was detected ...

1987 Science 257 citations

Publication Info

Year: 1996
Type: article
Volume: 99
Issue: 1
Pages: 88-92
Citations: 114
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

114

OpenAlex

Cite This

APA Style

                            
                                
                                    Meena Upadhyaya, 
                                
                                    Michael J. Osborn, 
                                
                                    Julie Maynard
                                
                                et al.
                            
                            (1996). 
                            Mutational and functional analysis of the neurofibromatosis type 1 ( NF1 ) gene. 
                            Human Genetics
                            , 99
                            (1)
                            , 88-92.
                            https://doi.org/10.1007/s004390050317
                        

Identifiers

DOI: 10.1007/s004390050317