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NF1 gene

Known as: NEUROFIBROMIN 1, Watson disease, nf 1 Genes 
Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause… 
National Institutes of Health

Related topics

Related topics

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Atypical NeurofibromaCardiac NeurofibromaCellular NeurofibromaCervical Malignant Peripheral Nerve Sheath Tumor

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2003
Review
2003
Hereditary nonpolyposis colorectal cancer and related conditions
Hereditary nonpolyposis colorectal cancer (HNPCC) is a cancer‐predisposing condition caused by inactivating mutations in at least… 
Highly Cited
2000
Highly Cited
2000
A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
PURPOSE To map the locus for autosomal dominant cataracts (ADCs) in a Brazilian family using candidate gene linkage analyses… 
Highly Cited
1998
Highly Cited
1998
NF2 gene in neurofibromatosis type 2 patients.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also… 
Highly Cited
1996
Highly Cited
1996
Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP‐dependent protein kinase
Highly Cited
1996
Highly Cited
1996
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a prevalence of around 1 in 3500, affecting all… 
Highly Cited
1995
Highly Cited
1995
Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.
The neurofibromatosis 1 gene seems to play essential roles at several different stages of life. During embryogenesis, it is… 
Highly Cited
1994
Highly Cited
1994
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pathological mutations in the… 
Highly Cited
1993
Highly Cited
1993
Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras.
The NF1 gene, which is altered in patients with type 1 neurofibromatosis, encodes neurofibromin, a protein whose GTPase… 
Highly Cited
1993
Highly Cited
1993
Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments.
To identify evolutionary conserved domains and facilitate the recognition of potentially significant mutations in NF1 patients or… 
Highly Cited
1991
Highly Cited
1991
cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.
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