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Open Access Green as soon as Postprint is submitted to ZB.
Early onset acromegaly associated with a novel deletion in CDKN1B 5'UTR region.
Endocrine 49, 58-64 (2015)
Genetic alterations frequently are involved in the development of a pituitary adenoma in young age. We here characterize the functional role of a deletion in CDKN1B 5'-UTR region (c.-29_-26delAGAG) identified in an acromegalic patient that developed a growth hormone in pituitary adenoma during childhood. Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5'-UTR transcriptional activity in vitro. The patient displayed loss of heterozygosity in the same CDKN1B 5'-UTR region at tissue level and the 5'UTR region containing the deleted sequence encompasses a GRE. These findings indicate that the identification of functional alterations of newly discovered genetic derangements need to be fully characterized and always correlated with the clinical manifestations.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Acromegaly ; Cdkn1b ; Genetic Derangements; Multiple Endocrine Neoplasia; Pituitary-adenomas; Functional-characterization; Inhibitor P27; Cell-cycle; Mutation; Prevalence; Cancer; Tumors
ISSN (print) / ISBN
1355-008X
e-ISSN
1559-0100
Journal
Endocrine
Quellenangaben
Volume: 49,
Issue: 1,
Pages: 58-64
Publisher
Springer
Publishing Place
Totowa, NJ
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Pathology (PATH)