Associated Papers
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.
Douwes JPJ et al.
Cancers, 2025
Functional annotation of the Hippo pathway somatic mutations in human cancers.
Han H et al.
Nature Communications, 2024
Prevalence and Associations of Co-occurrence of NFE2L2 Mutations and Chromosome 3q26 Amplification in Lung Cancer.
Liu J et al.
Global Medical Genetics, 2024
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Evans DG et al.
Journal of Medical Genetics, 2023
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
Re-evaluation of missense variant classifications in NF2.
Sadler KV et al.
Human Mutation, 2022
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
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV et al.
Journal of Medical Genetics, 2021
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma.
Supartoto A et al.
International Journal of Ophthalmology, 2019
Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.
DE Carvalho RM et al.
Anticancer Research, 2018
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype.
Heineman TE et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The merlin interacting proteins reveal multiple targets for NF2 therapy.
Scoles DR
Biochimica Et Biophysica Acta, 2008
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
Evans DG et al.
Clinical Genetics, 2007
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
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
Mohyuddin A et al.
Journal of Medical Genetics, 2002
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
Normal membrane localization and actin association of the NF2 tumor suppressor protein are dependent on folding of its N-terminal domain.
Brault E et al.
Journal of Cell Science, 2001
Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane.
Deguen B et al.
Human Molecular Genetics, 1998
Exon scanning for mutation of the NF2 gene in schwannomas.
Jacoby LB et al.
Human Molecular Genetics, 1994