NF1


Also found in: Acronyms.

NF1

A gene on chromosome 17q11.2 that encodes neurofibromin 1, a protein which stimulates GTPase activity of Ras and may regulate Ras activity.

Molecular pathology
NF1 defects cause:
• Familial spinal neurofibromatosis;
• Juvenile myelomonocytic leukaemia;
• Neurofibromatosis type 1;
• Neurofibromatosis-Noonan syndrome;
• Watson syndrome; and
• Some cases of colorectal carcinoma.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
According to the agency's data, 2019 NF1 used to be a frequent visitor to Venus's vicinity.
The study, led by researchers at Columbia University showed that a lot of have NF1, a hereditary disease that can lead to the development of tumors throughout the nervous system, including a type of brain tumor called a glioma.
Global Study Looked for Vulnerabilities in NF1 Brain Tumors
Approximately 85% of GISTs are driven by activating mutations in the oncogenes KIT or alternatively PDGFRA , whereas this mutation of KIT and PDGFRA is very rare in NF1-GISTs.[3] Cases such as ours where various mutation types GISTs coexisting in a NF1 patient are rarer still.
Both Mission Peak and Walnut Creek, equipped with NF1 modules, are ideal for use in content distribution networks as well as in any environment that must meet high performance and high-density benchmarks.
The formation of neurofibromas causes the suppression of Fas-ligand expression and protection from the apoptosis of CD4+T cells in NF1 patients.
"This could lead to NF1 being detected much earlier through the recording of coffee-coloured marks - and identify complications that can severely impact on a child's quality of life," she says.
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].
Two novel somatic alterations were detected in NF1: N62 carried a splicing mutation c.480-1G>C in exon 5 and N55 had a frameshift deletion (p.W784fs) in exon 20.
The expression of specific extra- and intracellular molecular markers was analysed by flow cytometry in the following cell populations: three undifferentiated ESC lines (GENEA 02, H9, and H9 OCT4 mCHERRY) and one iPSC line (NF1); cells derived from the differentiation of all pluripotent stem cells into MSC-like cells (GENEA 02-MSC, H9-MSC, H9 OCT4 mCHERRY-MSC, and NF1-MSC) after 10 (MP0), 17 (MP1), and 24 (MP2) days of directed mesenchymal differentiation and bone marrow-derived hMSCs at any passage.
We present a case of low-grade MPNST, arising in a diffuse neurofibroma of the parotid in a patient with no past history of neurofibromatosis type I (NF1).