Truncated NF2 proteins are not detected in meningiomas and schwannomas

Neuropathology

Volumn 21, Issue 3, 2001, Pages 168-173

  Den Bakker, Michael A ^a   Van Tilborg, Angela A G ^b   Kros, Johan M ^a   Zwarthoff, Ellen C ^a,b,c  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b ROYAL CORNWALL HOSPITALS NHS TRUST   (United Kingdom)

^c JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

Author keywords

Chromosome 22; Immunoprecipitation; Neurofibromatosis; NF2

Indexed keywords

GENE PRODUCT; PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CHROMOSOME 22; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOPRECIPITATION; MENINGIOMA; NEURILEMOMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; TUMOR SUPPRESSOR GENE;

ACTINS; ALLELIC IMBALANCE; ANTIGENS, CD34; CHROMOSOMES, HUMAN, PAIR 22; ENDOTHELIUM, VASCULAR; GENES, NEUROFIBROMATOSIS 2; HUMANS; MENINGIOMA; MICROSATELLITE REPEATS; MUSCLE, SMOOTH, VASCULAR; MUTATION; NEURILEMMOMA; NEUROFIBROMATOSIS 2; NEUROFIBROMIN 2; PRECIPITIN TESTS; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY;

EID: 0034773937     PISSN: 09196544     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1789.2001.00394.x     Document Type: Article

References (26)

1. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
2. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor [published erratum appears in Cell 1993;75:826]
3. Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
4. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations
5. Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
6. Neurofibromatosis and associated tumour suppressor genes
7. Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas
8. Evidence for two candidate tumour suppressor loci on chromosome 9q in transitional cell carcinoma (TCC) of the bladder but no homozygous deletions in bladder cell lines
9. Expression of the neurofibromatosis type 2 gene in human tissues
10. Evidence for a cytoskeleton attachment domain at the N-terminus of the NF2 protein
11. Neurofibromatosis type 2 protein co-localizes with elements of the cytoskeleton
12. Loss of merlin-p85 protein complex in NF2-related tumors
13. Localization and functional domains of the neurofibromatosis type II tumor suppressor, merlin
14. Impairment of cell adhesion by expression of the mutant neurofibromatosis type 2 (NF2) genes which lack exons in the ERM-homology domain
15. Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas
16. Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma
17. Defects in neurofibromatosis 2 protein function can arise at multiple levels
18. The involvement of calpain-dependent proteolysis of the tumor suppressor NF2 (merlin) in schwannomas and meningiomas
19. Genes on chromosome 22 involved in the pathogenesis of central nervous system tumors
20. Calpain-dependent proteolysis of NF2 protein: Involvement in schwannomas and meningiomas
21. A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2
22. Loss of merlin expression in sporadic meningiomas, ependymomas and schwannomas
23. Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas
24. Reduced expression of schwannomin/merlin in human sporadic meningiomas
25. Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas
26. Universal absence of Merlin but not other ERM family members, in schwannomas