Searchable abstracts of presentations at key conferences in endocrinology

ea0035p831 | Pituitary Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2014

Functional characterization of a new deletion in CDKN1B 5′-UTR region

Ruvo Mauro Di , Tagliati Federico , Gentilin Erica , Gagliano Teresa , Pellegata Natalia , Benfini Katiuscia , Uberti Ettore degli , Zatelli Maria Chiara

Introduction: CDKN1B gene, which encodes a cyclin-dependent kinase (Cdk) inhibitor, regulates the progression throughout G1 to S cell cycle progression. CDKN1B loss-of-function germinal mutations cause the multiple endocrine neoplasia type 4 syndrome (MEN4).Objective: The aim of the study is the functional characterization of a new 4 bp deletion in CDKN1B 5′-UTR region, identified in an acromegalic patient.Materials and metho...