Functional impairment of p16INK4A due to CDKN2A p.Gly23Asp missense mutation

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 671, Issue 1-2, 2009, Pages 26-32

  Scaini, Maria Chiara ^a   Rossi, Elisabetta ^a   de Siqueira Torres, Paula Lobao Antunes ^c   Zullato, Daniela ^b   Callegaro, Monia ^a   Casella, Cinzia ^a   Quaggio, Monica ^a   Agata, Simona ^b   Malacrida, Sandro ^a   Chiarion Sileni, Vanna ^b   Vecchiato, Antonella ^b   Alaibac, Mauro ^a   Montagna, Marco ^b   Mann, Graham J ^c   Menin, Chiara ^b   D'Andrea, Emma ^a,b  

^a UNIVERSITY OF PADOVA   (Italy)

^b VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

CDKN2A locus; Familial melanoma; Functional assays; p16INK4A unclassified variant

Indexed keywords

ASPARTIC ACID; CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A; GLYCINE; RETINOBLASTOMA PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CANCER SUSCEPTIBILITY; CELL CYCLE ARREST; CELL CYCLE G1 PHASE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; MELANOMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION;

CELL CYCLE; CYCLIN-DEPENDENT KINASE INHIBITOR P16; GENES, P16; HUMANS; MELANOMA; MUTATION, MISSENSE; PHOSPHORYLATION; POLYMORPHISM, GENETIC; SALIVARY PROLINE-RICH PROTEINS;

EID: 70350336867     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2009.08.007     Document Type: Article

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