CYLD mutations in familial skin appendage tumours

Keyphrases

• Cylindromatosis 100%
• Cylindroma 100%
• Trichoepithelioma 100%
• Brooke-Spiegler Syndrome 100%
• Skin Appendage Tumour 100%
• Spiradenoma 66%
• Multiple Familial Trichoepithelioma 66%
• Molecular Mechanism 33%
• Disease Severity 33%
• Tumor Subtype 33%
• Binding Site 33%
• Proband 33%
• Catalytic Domain 33%
• Novel mutation 33%
• Genotype-phenotype Correlation 33%
• Mutation Type 33%
• Nonsense mutation 33%
• Phenotypic Variation 33%
• Germline mutation 33%
• Negatively Regulate 33%
• Distinct Entity 33%
• Deubiquitinating Enzyme 33%
• Mutation Frequency 33%
• Patient Phenotype 33%
• Mutation Spectrum 33%
• Insertion mutation 33%
• Single Entity 33%
• Deletion mutation 33%
• Insertion-deletion 33%
• Protein Drug 33%
• Truncated Protein 33%
• Skin Tumor 33%
• Exon 9 33%
• Product Function 33%
• C-Jun N-terminal Kinase Signaling 33%
• Genotype-phenotype Analysis 33%
• Skin Tumorigenesis 33%
• Phenotype Severity 33%
• CYLD Gene 33%

Biochemistry, Genetics and Molecular Biology

• Carcinogenesis 100%
• Enzyme Active Site 100%
• Enzyme 100%
• Exon 100%
• Binding Site 100%
• Kinase 100%
• Phosphotransferase 100%
• N-Terminus 100%
• Genotyping 100%
• Proband 100%
• Nonsense Mutation 100%
• Mutation Rate 100%
• Germline Mutation 100%
• Indel 100%
• CYLD (Gene) 100%
• Genotype-Phenotype Correlation 100%

Medicine and Dentistry

• Cylindroma 100%
• Skin Appendage 100%
• Appendage Tumor 100%
• Trichoepithelioma 83%
• Hidradenoma 33%
• Enzyme Active Site 16%
• Carcinogenesis 16%
• Disease Severity 16%
• Nonsense Mutation 16%
• Amino Terminal Sequence 16%
• Kinase Signaling 16%
• Binding Site 16%
• Germline Mutation 16%
• Exon 16%
• Skin Tumor 16%
• Mutation Rate 16%
• Indel Mutation 16%
• Deubiquitinase 16%
• Genotype Phenotype Correlation 16%
• Distinct Entity 16%