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References in periodicals archive ?
These observations might tentatively be linked to peculiar aspects of the maturation and differentiation of Schwann cells in neurofibromas, which might translate into different concentrations of the cytoplasmatic content of neurofibromin, arising from differences in the morphological expression of genetic alterations of the NF1 gene (monoallelic or biallelic) [2-6] and the neural microenvironment [7].
Moreover, the protein sequence alignment showed a high degree of conservation of the amino acid sequence around the T2183 residue in the neurofibromin protein across 12 different species by the UCSC Genome Bioinformatics tool [Figure 1]e.
Neurofibromin is encoded by the NF1 tumor suppressor gene and functions as a negative regulator of p21Ras (Ras) activity in circulating hematopoietic and vascular wall cells [26, 100-103].
This condition is caused by inherited or de novo mutations of the NF1 gene at the 17q11.2 chromosomal region, a gene that codes for the protein neurofibromin [7].
MPNST tumor lines from human and mouse have been used to elucidate the mechanism of action of neurofibromin [40]; study the role of tyrosine kinase receptors [41-47], growth factors [48-50], p53 [51,52],micro-RNAs [30,53], and sex hormones [54-56] in MPNST biology; and examine the effects of chemotherapy [57-67] and viral therapy [68-71] as potential treatments for MPNST.
neurofibromatosis) with mutation of neurofibromin on chromosome 17q11.29,10.
Hegedus et al (30) showed that neurofibromin provides somatic growth by affecting the hypothalamic-pituitary axis.
The disease is caused by loss of function mutations in NF1 gene, a tumor suppressor on chromosome 17q11.2, that encodes neurofibromin. Neurofibromin is a guanosine triphosphatase-activating protein and a negative regulator of RAS proto-oncogene.
Tumors due to mutations of neurofibromin 1 (NF1) [4] and ret proto-oncogene (RET) genes show increases in metanephrine, usually with additional increases in normetanephrine (Fig.
Neurofibromin (the protein encoded by NF-1 gene) is an important element in the heart development and is expressed in both endothelial and smooth muscle cells of blood vessels [10].
The NF1 gene encodes a large cytoplasmic protein called neurofibromin, which is a major negative regulator of Ras protooncogene, a key protein in a major signal transduction pathway [50, 52].
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