NF2 gene in neurofibromatosis type 2 patients
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چکیده
منابع مشابه
NF2 gene in neurofibromatosis type 2 patients.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been described, po...
متن کاملNeurofibromatosis type 2 protein, NF2: an uncoventional cell cycle regulator.
Neurofibromatosis type 2 protein (NF2) is an underappreciated tumor suppressor involved in a broad range of nervous system tumors. Inactivation of the NF2 gene leads to neurofibromatosis type-2, which is characterized by multiple benign nervous system tumors and mutations in the gene have been demonstrated in many other tumor types as well. All tumors, regardless of location or grade, lack a fu...
متن کاملNeurofibromatosis type 2 (NF2): A clinical and molecular review
Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which...
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Previously, we have cloned a candidate for the 595-amino acid neurofibromatosis type 2 tumor suppressor called NF2 or Merlin, with striking sequence similarity in its N-terminal half to an F-actin-binding protein family called TERM, which includes talin, ezrin, radixin, and moesin (Trofatter, J. A., MacCollin, M. M., Rutter, J. L., Murrell, J. R., Duyao, M. P., Parry, D. M., Eldridge, R., Kley,...
متن کاملConditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2.
Hemizygosity for the NF2 gene in humans causes a syndromic susceptibility to schwannoma development. However, Nf2 hemizygous mice do not develop schwannomas but mainly osteosarcomas. In the tumors of both species, the second Nf2 allele is inactivated. We report that conditional homozygous Nf2 knockout mice with Cre-mediated excision of Nf2 exon 2 in Schwann cells showed characteristics of neuro...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1998
ISSN: 1460-2083
DOI: 10.1093/hmg/7.13.2095