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 |
|
|
|
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 |
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 |
Pituitary Adenoma
|
0.710 |
Biomarker
|
disease |
CTD_human |
A pathway in quiescent cells that controls p27Kip1 stability, subcellular localization, and tumor suppression.
|
16391232 |
2006 |