Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity

Journal of Investigative Dermatology

Volumn 128, Issue 3, 2008, Pages 587-593

  Almeida, Stéphanie ^a   Maillard, Caroline ^a   Itin, Peter ^b   Hohl, Daniel ^a   Huber, Marcel ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CYSTEINE; DEUBIQUITINASE; GENE PRODUCT; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; POLYUBIQUITIN; PROTEIN CYLD; STRESS ACTIVATED PROTEIN KINASE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 2; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 6; UBIQUITIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; CONTROLLED STUDY; CYLINDROMA; EMBRYO; ENZYME ACTIVITY; FAMILIAL DISEASE; FEMALE; HIDRADENOMA; HUMAN; HUMAN TISSUE; HYDROGEN BOND; IMMUNOPRECIPITATION; IMMUNOREGULATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SCHOOL CHILD; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; SKIN APPENDAGE DISEASE; SKIN TUMOR; STOP CODON; TRICHOEPITHELIOMA;

ADULT; AMINO ACID SEQUENCE; BIOPSY; CARCINOMA, ADENOID CYSTIC; CARCINOMA, SKIN APPENDAGE; CELL LINE, TUMOR; CODON, TERMINATOR; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SKIN NEOPLASMS; TNF RECEPTOR-ASSOCIATED FACTOR 2; TNF RECEPTOR-ASSOCIATED FACTOR 6; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN;

EID: 39149126663     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5701045     Document Type: Article

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