Associated Papers
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1
Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).
Havranek B et al.
Journal of Biomolecular Structure & Dynamics, 2021
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
Ahronowitz I et al.
Human Mutation, 2007
Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.
Golovnina K et al.
Bmc Evolutionary Biology, 2005
Effect of merlin phosphorylation on neurofibromatosis 2 (NF2) gene function.
Surace EI et al.
Oncogene, 2004
Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain.
Shimizu T et al.
The Journal of Biological Chemistry, 2002
The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.
Kang BS et al.
Acta Crystallographica. Section D, Biological Crystallography, 2002
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
Gutmann DH et al.
Human Molecular Genetics, 2001
The 2.7 A crystal structure of the activated FERM domain of moesin: an analysis of structural changes on activation.
Edwards SD et al.
Biochemistry, 2001
Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.
Gutmann DH et al.
Human Molecular Genetics, 2000
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.
Evans DG et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 1999
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans DG et al.
Journal of Medical Genetics, 1998
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
Kluwe L et al.
Human Genetics, 1996
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