CDKN1B, cyclin dependent kinase inhibitor 1B, 1027

N. diseases: 454; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE Cyclin-dependent kinase inhibitor 1B (CDKN1B) pathogenic variants lead to multiple endocrine neoplasia type 4 (MEN4) syndrome, in which pituitary adenomas can occur. 31658440 2019
Multiple Endocrine Neoplasia, Type IV
0.790 GermlineCausalMutation disease ORPHANET The aim of this study was to in vitro characterize the germline CDKN1B mutation c.374_375delCT (S125X) we detected in a patient with MEN4. 25416039 2015
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Eight mutations of CDKN1B in MEN4 patients have been published so far. 24819502 2014
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE As the CDKN1B (p27) gene causes MEN4 syndrome and it is transcriptionally regulated by the product of the MEN1 gene (menin), we sought to analyze whether p27 influences the phenotype of MEN1-mutated patients. 24920291 2014
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease GENOMICS_ENGLAND Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. 25162666 2014
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE Eight mutations of CDKN1B in MEN4 patients have been published so far. 24819502 2014
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. 23555276 2013
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE Here, we review the clinical characteristics of the MEN4 syndrome and the molecular phenotype of the associated p27Kip1 mutations. 23652671 2013
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. 23555276 2013
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how it is affected by MENX- or MEN4-associated mutations. 23800691 2013
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Our results confirm that germline CDKN1B mutations may predispose to a human MEN4 condition and add novel evidence that alteration in the transcription/translation rate of CDKN1B mRNA might be the mechanism implicated in tumor susceptibility. 22129891 2012
Multiple Endocrine Neoplasia, Type IV
0.790 AlteredExpression disease BEFREE Our results confirm that germline CDKN1B mutations may predispose to a human MEN4 condition and add novel evidence that alteration in the transcription/translation rate of CDKN1B mRNA might be the mechanism implicated in tumor susceptibility. 22129891 2012
Multiple Endocrine Neoplasia, Type IV
0.790 GeneticVariation disease BEFREE Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27(KIP1) encoding gene CDKN1B have been associated with two well-defined hereditary conditions, familial isolated pituitary adenoma (FIPA) and multiple endocrine neoplasia type 4 (MEN4). 20530095 2010
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. 20824794 2010
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease BEFREE In this chapter we present the MENX syndrome and its phenotype, and we compare it to the human MEN syndromes; we discuss the current state of knowledge regarding the genes associated to inherited MEN, with a particular focus on CDKN1B; we present recent clinical and basic findings about the MEN4 syndrome and the functional characterization of the CDKN1B mutations identified. 20541671 2010
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. 19141585 2009
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN The Cdk inhibitor p27 in human cancer: prognostic potential and relevance to anticancer therapy. 18354415 2008
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. 17519308 2007
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 17030811 2006
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CLINGEN Mice lacking p27(Kip1) display increased body size, multiple organ hyperplasia, retinal dysplasia, and pituitary tumors. 8646779 1996
Multiple Endocrine Neoplasia, Type IV
0.790 CausalMutation disease CLINVAR
Multiple Endocrine Neoplasia, Type IV
0.790 Biomarker disease CTD_human
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.710 Biomarker disease BEFREE The prevalence of germline mutations in MEN1, AIP, PRKAR1A, CDKN1B and CDKN2CI is unknown among pediatric patients with pituitary adenomas (PA). 20507346 2010
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.710 Biomarker disease GENOMICS_ENGLAND Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. 17030811 2006
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.710 Biomarker disease CTD_human A pathway in quiescent cells that controls p27Kip1 stability, subcellular localization, and tumor suppression. 16391232 2006