نتایج جستجو برای: neurofibromatosis nf2
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The co-existence of meningioma and schwannoma as 2 distinct histologic components within the same tumor has been described in neurofibromatosis 2 (NF2), but the co-existence of both tumors without evidence of NF2 is much rarer. Here, we are reporting a case of mixed schwannoma with meningioma without clinical evidence of NF2. In an adult Saudi lady with progressive left-sided hearing loss, left...
Aneurysms of the middle meningeal artery are rare, with no documented association with neurofibromatosis type 2 (NF2). Middle meningeal artery aneurysm embolization with N-butylcyanoacrylate has not been described, and altogether, few accounts exist regarding the endovascular management of these unusual aneurysms. In this case report of a patient with NF2, an unruptured middle meningeal artery ...
The neurofibromatosis type 2 (NF2) tumor suppressor, Merlin, is a membrane/cytoskeleton-associated protein that mediates contact-dependent inhibition of proliferation. Here we show that upon cell-cell contact Merlin coordinates the processes of adherens junction stabilization and negative regulation of epidermal growth factor receptor (EGFR) signaling by restraining the EGFR into a membrane com...
Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer predisposition syndrome characterized by the development of bilateral vestibular (VS) and spinal schwannomas secondary to loss heterozygosity NF2 in Schwann cells or their precursors. While these tumors are largely benign, they can cause considerable morbidity due compromised auditory, vestibular, facial, vertebral nerve function. T...
Neurofibromatosis 2 (NF2), an autosomal dominant disorder that is characterised by tumours of cells of neural crest origin, is caused by inactivating mutations of the NF2 gene on chromosome 22q12. 2 Bilateral vestibular schwannomas are the most frequent manifestation of the disease, but other central and peripheral nervous system schwannomas, cerebral meningiomas, and ocular abnormalities are a...
The neurofibromatosis 2 (NF2) tumor suppressor protein, schwannomin or merlin, is commonly lost upon NF2 gene mutation in benign human brain tumors. We identified the p110 subunit of the eukaryotic initiation factor 3 (eIF3c) as a schwannomin interacting protein. The eIF3 complex consists of approximately 10 subunits whose functions are only recently becoming known. Interaction between schwanno...
La neurofibromatosis (NF) es un grupo de síndromes neurocutáneos cáncer tipo hereditario que se asocian a tumores del sistema nervioso central y periférico. Existen 3 subtipos: Neurofibromatosis 1 (NF1), 2 (NF2) la Schwannomatosis; NF1 más representativa con el 96 % todos los casos, también conocida como enfermedad Von Recklinghausen, hereda carácter autosómico dominante, debida una mutación en...
PURPOSE Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder associated primarily with bilateral schwannomas seen on the superior vestibular branches of the eighth cranial nerves. Significant morbidity can result from surgical treatment of these tumors. Meningiomas, ependymomas, and other benign central nervous system tumors are also common in NF2. The lack of effective treatmen...
Meningiomas account for approximately 30% of all primary central nervous system tumors and are found in half of neurofibromatosis type 2 patients often causing significant morbidity. Although most meningiomas are benign, 10% are classified as atypical or anaplastic, displaying aggressive clinical behavior. Biallelic inactivation of the neurofibromatosis 2 (NF2) tumor suppressor is associated wi...
Mutagenic loss of the NF2 tumor suppressor gene encoded protein merlin is known to provoke the hereditary neoplasia syndrome, Neurofibromatosis type 2 (NF2). In addition to glial cell-derived tumors in the PNS and CNS, disease-related lesions also affect the skin and the eyes. Furthermore, 60% of NF2 patients suffer from peripheral nerve damage, clinically referred to as peripheral neuropathy. ...
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