NF1


Also found in: Acronyms.

NF1

a gene associated with neurofibromatosis. The gene is normally part of a family that helps regulate the timing of cell divisions. It may become defective, leading to neurofibromatosis expression, when an itinerant sequence of a deoxyribonucleic acid molecule becomes wedged in the NF1 gene.

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.
References in periodicals archive ?
Systemic findings that are associated with NF1 include malignant peripheral nerve sheath tumors, optic gliomas, and vasculopathy.
Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma characterized by abnormalities in PDGFR, IDH1, EGFR and NF1.
When the results came back the doctors looked me all over and told me I had the genetic condition NF1.
Herein, we present a case of a Chinese NF1 family with a novel mutation in NF1 gene.
This was a retrospective study of 50 patients clinically diagnosed as NF1.
Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force.
Molecular Genetic Studies (eg, KIT, PDGFRA, BRAF, SDHA/B/C/D, or NF1 mutational analysis) __Submitted for analysis; results pending __Performed, see separate report: __Performed Specify method(s) and results: __Not performed KIT Mutational Analysis (note B) __No mutation detected __Mutation identified (specify:) __ __Cannot be determined (explain): PDGFRA Mutational Analysis (note C) __No mutation detected __Mutation identified (specify): __ __Cannot be determined (explain): BRAF Mutational Analysis (note D) __No BRAF mutation detected __BRAF V600E (c.
Following the article of Thursday July 23 we wish to clarify, that while Sam Fettis has passed on the NF1 disorder to three of her four sons, she did not pass on brain tumours to all her sons as implied in the headline.
The symptoms of NF1 are usually marble-sized lumps under the skin surface anywhere or everywhere on the body.
Pediatric gliomas frequently harbored clinically relevant genomic alterations in BRAF (29%), CDKN2A/B (15%), NF1 (14%), PIK3CA(14%) and EGFR (11%).
Her parents, David and Catherine, are now campaigning to raise awareness of NF1 and want the tell-tale signs included in the red Personal BRAVE Madeleine smiles through pain Health Record book issued to every child.