Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2
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
The merlin interacting proteins reveal multiple targets for NF2 therapy.
Scoles DR
Biochimica Et Biophysica Acta, 2008
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 the neurofibromatosis type 2 protein by means of disease-causing point mutations.
Stokowski RP et al.
American Journal of Human Genetics, 2000
Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane.
Deguen B et al.
Human Molecular 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
Exon scanning for mutation of the NF2 gene in schwannomas.
Jacoby LB et al.
Human Molecular Genetics, 1994
Select a paper to view details