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

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

p27 as Jekyll and Hyde: Regulation of cell cycle and cell motility

(2011) Michelle D. Larrea et al.   CELL CYCLE

Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype

(2011) Donatella Malanga et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Somatic Mutation and Germline Sequence Abnormalities inCDKN1B, Encoding p27Kip1, in Sporadic Parathyroid Adenomas

(2011) Jessica Costa-Guda et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Upstream open reading frames: Molecular switches in (patho)physiology

(2010) Klaus Wethmar et al.   BIOESSAYS

Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia

(2010) G Occhi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization

(2010) Sara Molatore et al.   HUMAN MUTATION

Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States

(2009) Sunita K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

(2009) Yaran Wen et al.   NATURE GENETICS

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

(2009) S. E. Calvo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple endocrine neoplasms

(2008) Alberto Falchetti et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Assessment ofp27(cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectableMEN1gene mutations

(2008) Susana Igreja et al.   CLINICAL ENDOCRINOLOGY