NF2


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NF2

NF2

A gene on chromosome 22q12.2 that encodes a putative regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, which plays a key role in tumour suppression by restricting proliferation and promoting apoptosis. NF2 may act as a membrane-stabilising protein, and it may inhibit PI3 kinase by binding to AGAP2 and downregulating its stimulating activity. NF2 suppresses cell proliferation and tumourigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

Molecular pathology
NF2 defects cause:
• Neurofibromatosis 2;
• Schwannomatosis; and
• Mesothelioma (some cases).

Neurofibromatosis type 2 (NF2)

A hereditary condition associated with an increased risk of bilateral acoustic neuromas, other nerve cell tumors and cataracts.
Mentioned in: Acoustic Neuroma
References in periodicals archive ?
Dr Ammoun commented: "By understanding the relationship between overproduction of PrPC and Merlin deficiency in the development of schwannoma and meningioma, we have made a significant stride forward in the search for a drug treatment for NF2.
En el caso de cirugia se puede realizar reseccion parcial o total de los tumores, esta reseccion es realizada por diferentes vias; la via Translaberintica permite un acceso directo al tumor donde este se contacta con el facial, con minima retraccion cerebelosa; la via retrosigmoidea ofrece un acceso mas rapido en caso de VS grandes que salen del canal auditivo interno, sin embargo, el nervio facial queda oculto por encontrarse en la superficie anterior del tumor, con el consecuente riesgo de ser lesionado; la via a traves de fosa media la cual se usa en casos de tumores < 1,5 cm limitados al CAI donde la meta es la preservacion auditiva (2,7); con tasas de residiva del 1,3% para SV espodradicos unilaterales y de 44,4% para los bilaterales asociados a NF2 (28).
NF2 is an autosomal dominant condition affecting 1:50 000 people, with the mutation occurring on chromosome 22; cutaneous manifestations are rare as it affects Schwann cells and meninges.
Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas.
Donna, whose husband and two of their three children have NF2, talks about the pros and cons of pursuing a genetic diagnosis: the ability to monitor the condition and prevent complications versus the risk of genetic discrimination.
An NF2 sentence [Phi] = [exists]R[inverted] Ax[exists][y.
For this reason, we want to study the general problems with a PRA by using first-normal-form relations before we switch to the NF2 model.
Unlike those with a unilateral acoustic neurinoma, individuals with NF2 usually develop symptoms in their teens or early adulthood.
Date: Wednesday, September 12, 2012, 11:30 AM - 12:30 PM (ET) Poster Title: FAK inhibitor VS-4718 preferentially attenuates cell growth of malignant mesotheliomas with NF2 mutation: role of cancer stem cells Abstract Number: 407 Location: Harborview Ballroom at the Seaport Hotel and World Trade Center in Boston, MA Session: Novel Therapeutics
800 m2 setzen sich wie folgt zusammen: NF2 Broarbeit 196 m2; NF3 Labore/Technika 505 m2; NF4 Lager 30 m2; NF5 Besprechung und Konferenz 70 m2.
Multiple meningiomatosis are frequently associated with NF2.