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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
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
Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.
Dinh CT et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma.
Glass C et al.
The American Journal of Surgical Pathology, 2020
Lipid binding promotes the open conformation and tumor-suppressive activity of neurofibromin 2.
Chinthalapudi K et al.
Nature Communications, 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
Spatial organization of Hippo signaling at the plasma membrane mediated by the tumor suppressor Merlin/NF2.
Yin F et al.
Cell, 2013
Stability of the tumor suppressor merlin depends on its ability to bind paxillin LD3 and associate with β1 integrin and actin at the plasma membrane.
Manetti ME et al.
Biology Open, 2012
Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression.
Cooper J et al.
Science Signaling, 2011
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.
Li W et al.
Cell, 2010
Neurofibromatosis 2 tumor suppressor, the gene induced by valproic acid, mediates neurite outgrowth through interaction with paxillin.
Yamauchi J et al.
Experimental Cell Research, 2008
The merlin interacting proteins reveal multiple targets for NF2 therapy.
Scoles DR
Biochimica Et Biophysica Acta, 2008
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
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology.
Fernandez-Valle C et al.
Nature 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
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
Gutmann DH et al.
Human Molecular Genetics, 2001
Detection of novel NF2 mutations by an RNA mismatch cleavage method.
Faudoa R et al.
Human Mutation, 2000
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 neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes.
Scoles DR et al.
Neurology, 1996
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