cytidylyl-3--5--guanosine has been researched along with Neurofibromatosis-2* in 2 studies
2 other study(ies) available for cytidylyl-3--5--guanosine and Neurofibromatosis-2
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CpG island methylation in sporadic and neurofibromatis type 2-associated schwannomas.
The purpose of this research was to examine the DNA methylation profile of schwannomas.. We examined the DNA methylation status of 12 tumor-related genes (NF2, RB1, p14(ARF), p16(INK4a), p73, TIMP-3, MGMT, DAPK, THBS1, caspase-8, TP53, and GSTP1) in 44 sporadic and/or NF2-associated schwannomas using methylation-specific PCR.. The most frequently methylated genes were THBS1 (36%), p73 (27%), MGMT (20%), NF2 (18%), and TIMP-3 (18%). The RB1/p16INK4a gene pair displayed aberrant methylayed alleles in 15% of cases, whereas methylation was relatively rare in the other genes (<5%). Methylation was tumor specific because it was absent in two nonneoplastic nerve sheath samples and two nonneoplastic brain samples studied as controls.. Our findings indicate that aberrant methylation seems to be a mechanism for NF2 gene inactivation, considered an early step in schwannoma tumorigenesis, and as well, aberrant hypermethylation of other tumor-related genes might represent secondary events that also contribute to the development of these tumors. Topics: Adult; Aged; Dinucleoside Phosphates; DNA Methylation; Female; Genes, Neoplasm; Humans; Male; Middle Aged; Neurilemmoma; Neurofibromatosis 2; Polymerase Chain Reaction | 2003 |
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.
We have sought mutations in the recently identified neurofibromatosis type 2 (NF2) tumor-suppressor gene in a large panel of NF2 patients, using PCR-based SSCP and heteroduplex analysis, followed by cloning and sequencing of appropriate PCR products. Two unrelated NF2 patients were found to have identical nonsense mutations caused by a C-to-T transition in a CpG dinucleotide that is a potential mutational hot spot in the NF2 tumor-suppressor gene. Unexpectedly, the two individuals had widely different clinical phenotypes, representing the severe Wishart and mild Gardner clinical subtypes. Analysis of DNA samples from different tissues of the mildly affected patient suggests that he is a somatic mosaic for the mutation. Topics: Adolescent; Adult; Base Sequence; Dinucleoside Phosphates; DNA Mutational Analysis; Genes, Neurofibromatosis 2; Humans; Male; Molecular Sequence Data; Mosaicism; Neurofibromatosis 2; Nucleic Acid Conformation; Nucleic Acid Heteroduplexes; Pedigree; Phenotype; Point Mutation | 1994 |