Results 191 to 200 of about 23,999 (219)

Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development

Human Molecular Genetics, 1995
The neurofibromatosis 2 (NF2) gene product, merlin, encodes a 595 amino acid protein with sequence similarity to a family of proteins linking cell membrane proteins to the cytoskeleton. Two isoforms of merlin have been described which differ by the presence (type 2 merlin) or absence (type 1 merlin) of exon 16 sequences inserted into the extreme ...
D H, Gutmann, D E, Wright, R T, Geist, W D, Snider   +3 more
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Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas

Human Genetics, 1996
Vestibular schwannomas (VSs) are common benign tumors of Schwann cell origin and are frequently found in patients with neurofibromatosis type 2 (NF2). We analyzed 15 sporadic VSs for mutations in the tumors, two of which contained loss of heterozygosity (LOH). One of the tumors contained a novel mutation, a 19-bp deletion in exon 4.
J, Sainz, K, Figueroa, M E, Baser, S M, Pulst   +3 more
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Analysis of the Human Neurofibromatosis Type 2 Gene Promoter and its Expression

Otolaryngology–Head and Neck Surgery, 2000
OBJECTIVEIt is hypothesized that transcriptional regulation plays an important role for neurofibromatosis type 2 (NF2) expression in Schwann cells and other cell types. The objective of this study is the isolation and characterization of the transcriptional regulatory elements of the NF2 gene.STUDY DESIGN AND SETTINGA bacterial artificial chromosome ...
D B, Welling, E M, Akhmametyeva, R L, Daniels, J M, Lasak, L, Zhu, B A, Miles-Markley, L S, Chang   +6 more
openaire   +2 more sources

Lack of Neurofibromatosis Type 2 Gene Promoter Methylation in Sporadic Vestibular Schwannomas

ORL, 2012
<i>Background:</i> Vestibular schwannomas (VS) are benign tumors of the nervous system that are usually sporadic but also occur in the inherited disorder neurofibromatosis type 2 (NF2). In VS, losses of chromosomal material and mutations of the NF2 gene have been established to be causative.
D, Koutsimpelas, G, Ruerup, W J, Mann, J, Brieger   +3 more
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The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts

Human Molecular Genetics, 1994
Neurofibromatosis type 2 (NF2) is an autosomal dominantly-inherited disorder predisposing affected individuals to tumors of multiple cell types in the central nervous system, including meningiomas. A candidate tumor suppressor gene for this disorder has recently been cloned; the protein product of this gene has a predicted role in linking integral ...
M J, Pykett, M, Murphy, P R, Harnish, D L, George   +3 more
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Neurofibromatosis 2 gene has novel alternative splicings which controls intracellular protein binding

International Journal of Oncology, 1997
Three novel isoforms of the neurofibromatosis 2 (NF2) gene transcripts generated from alternative splicing were identified from normal human brain, schwannoma and glioma tissues. The 3 novel transcripts lack exon 2, exons 2 and 3, exons 2-4, respectively.
T, Nishi, H, Takeshima, K, Hamada, K, Yoshizato, H, Koga, K, Sato, K, Yamamoto, I, Kitamura, M, Kochi, J, Kuratsu, H, Saya, Y, Ushio   +11 more
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Tumor Suppressor Gene Regulation of Cell Growth: Recent Insights into Neurofibromatosis 1 and 2 Gene Function

Cell Biochemistry and Biophysics, 2001
The development of cancer involves a myriad of genetic changes that impact on multiple processes important for the orderly regulation of cell growth and differentiation. Genes whose protein products are disrupted during neoplastic transformation are termed "tumor suppressor genes" (TSGs).
E J, Uhlmann, D H, Gutmann
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[Molecular biological analysis of neurofibromatosis type 2 gene].

Nihon rinsho. Japanese journal of clinical medicine, 1993
Neurofibromatosis type 2 is a hereditary disorder characterized by bilateral vestibular and other schwannomas as well as various other central nervous system neoplasms such as gliomas, meningiomas, and neurofibromas. The region containing the NF2 gene has been localized to 22q12 both by linkage analysis and deletion mapping of NF2-related tumors ...
K, Ichimura, Y, Yuasa
openaire   +1 more source

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

Human Molecular Genetics, 1994
Schwannomas are common tumors of the nervous system and are frequently found in patients with neurofibromatosis (NF) 2. Although loss of heterozygosity in NF2 tumors suggests that the NF2 gene functions as a tumor suppressor gene, the NF2 gene shows amino acid sequence homology to structural proteins in one of which dominantly acting mutations have ...
J, Sainz, D P, Huynh, K, Figueroa, N K, Ragge, M E, Baser, S M, Pulst   +5 more
openaire   +2 more sources

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas

Human Genetics, 1996
Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas.
D B, Welling, M, Guida, F, Goll, D K, Pearl, M E, Glasscock, D G, Pappas, F H, Linthicum, D, Rogers, T W, Prior   +8 more
openaire   +2 more sources