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Tytuł:
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Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis.
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Autorzy:
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Bachir S; Department of Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
Shah S; Department of Neurosurgery, University of Cincinnati, Cincinnati, OH 45267, USA.
Shapiro S; Department of Otolaryngology, University of Cincinnati, Cincinnati, OH 45267, USA.
Koehler A; Department of Neurology, University of Cincinnati, Cincinnati, OH 45267, USA.
Mahammedi A; Department of Radiology, University of Cincinnati, Cincinnati, OH 45267, USA.
Samy RN; Department of Otolaryngology, University of Cincinnati, Cincinnati, OH 45267, USA.
Zuccarello M; Department of Neurosurgery, University of Cincinnati, Cincinnati, OH 45267, USA.
Schorry E; Department of Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
Sengupta S; Department of Neurology, University of Cincinnati, Cincinnati, OH 45267, USA.
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Źródło:
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International journal of molecular sciences [Int J Mol Sci] 2021 Jan 12; Vol. 22 (2). Date of Electronic Publication: 2021 Jan 12.
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Typ publikacji:
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Journal Article; Review
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Język:
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English
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Imprint Name(s):
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Original Publication: Basel, Switzerland : MDPI, [2000-
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MeSH Terms:
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Brain Neoplasms/*pathology
Meningeal Neoplasms/*pathology
Meningioma/*pathology
Neurofibromatosis 2/*pathology
Neuroma, Acoustic/*pathology
Animals ; Apoptosis/genetics ; Brain Neoplasms/genetics ; Cell Proliferation/genetics ; Humans ; Meningeal Neoplasms/genetics ; Meningioma/genetics ; Mutation/genetics ; Neurofibromatosis 2/genetics ; Neuroma, Acoustic/genetics
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Contributed Indexing:
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Keywords: meningiomas; neurofibromatosis type 2 (NF2); vestibular schwannomas
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Entry Date(s):
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Date Created: 20210115 Date Completed: 20210402 Latest Revision: 20210402
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Update Code:
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20240105
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PubMed Central ID:
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PMC7828193
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DOI:
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10.3390/ijms22020690
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PMID:
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33445724
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Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression. Mutations of the NF2 gene are strongly associated with NF2 diagnosis, leading to benign proliferative conditions such as vestibular schwannomas and meningiomas. Unfortunately, even though these tumors are benign, they are associated with significant morbidity and the potential for early mortality. In this review, we aim to encompass meningiomas and vestibular schwannomas as they pertain to NF2 by assessing molecular genetics, common tumor types, and tumor pathogenesis.
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