Associated Papers
Functional annotation of the Hippo pathway somatic mutations in human cancers.
Han H et al.
Nature Communications, 2024
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
Induced phase separation of mutant NF2 imprisons the cGAS-STING machinery to abrogate antitumor immunity.
Meng F et al.
Molecular Cell, 2021
Merlin/NF2 loss-driven tumorigenesis linked to CRL4(DCAF1)-mediated inhibition of the hippo pathway kinases Lats1 and 2 in the nucleus.
Li W et al.
Cancer Cell, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9
Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression.
Cooper J et al.
Science Signaling, 2011
Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.
Ellis JR et al.
Genes, Chromosomes & Cancer, 2011
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.
Li W et al.
Cell, 2010
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
Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.
Kluwe L et al.
American Journal of Medical Genetics, 1998
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