A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

PLoS Genetics

Volumn 9, Issue 3, 2013, Pages

  Occhi, Gianluca ^a   Regazzo, Daniela ^a   Trivellin, Giampaolo ^a,b   Boaretto, Francesca ^c   Ciato, Denis ^a   Bobisse, Sara ^c   Ferasin, Sergio ^a   Cetani, Filomena ^d   Pardi, Elena ^d   Korbonits, Márta ^b   Pellegata, Natalia S ^e   Sidarovich, Viktoryia ^f   Quattrone, Alessandro ^f   Opocher, Giuseppe ^a,c   Mantero, Franco ^a   Scaroni, Carla ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^d UNIVERSITY OF PISA   (Italy)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY OF TRENTO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1B;

5' UNTRANSLATED REGION; ADULT; ARTICLE; ASSAY; CDKN1B GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DUAL LUCIFERASE ASSAY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC PARAMETERS; HUMAN; HUMAN CELL; HYPOPHYSIS ADENOMA; IMMUNOHISTOCHEMISTRY; INTERCISTRONIC SPACE; MEN4 GENE; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 4; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PANCREAS TUMOR; PHENOTYPE; POLYSOME; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS; STOP CODON; TRANSLATION INITIATION;

5' UNTRANSLATED REGIONS; CELL CYCLE; CELL DIFFERENTIATION; CELL PROLIFERATION; CYCLIN-DEPENDENT KINASE INHIBITOR P27; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA; MUTAGENESIS, SITE-DIRECTED; MUTATION; OPEN READING FRAMES; PROTEIN BIOSYNTHESIS;

EID: 84876002553     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003350     Document Type: Article

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