Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
The genetic syndromes associated with PHPT include multiple endocrine neoplasia type 1 (MEN1), MEN2A, and MEN4, hyperparathyroidism-jaw tumor syndrome, familial isolated PHPT, familial hypocalciuric hypercalcemia, and neonatal severe hyperparathyroidism.
|
30641515 |
2019 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls.
|
29848728 |
2018 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to carry out genetic screening of the MEN1, CDKN1B and AIP genes, both by direct sequencing of the coding region and multiplex ligation-dependent probe amplification (MLPA) assay in the largest monocentric series of Italian patients with Multiple Endocrine Neoplasia type 1 syndrome (MEN1) and Familial Isolated Hyperparathyroidism (FIHP).
|
29036195 |
2017 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC).
|
25592387 |
2016 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Four different MEN syndromes have been so far identified: MEN type 1 (MEN1), MEN2A (also referred to as MEN2), MEN2B (or MEN3) and MEN4, which have slightly varying tumor spectra and are caused by mutations in different genes.
|
26184857 |
2016 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1.
|
25824098 |
2015 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1.
|
25824098 |
2015 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene; MEN3 (previously MEN2B) due to RET mutations; and MEN4 due to cyclin-dependent kinase inhibitor (CDNK1B) mutations.
|
23933118 |
2014 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
The aim of this study was to perform a genetic screening in our cohort or patients with suspected MEN1 syndrome by direct sequencing analysis of MEN1, CDKN1B and AIP, and dosage analysis of MEN1 and AIP.
|
22026581 |
2012 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.
|
22026581 |
2012 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since information on the pathogenesis of MEN1 in malignant cases is limited, we conducted genetic analysis and compared the expression of menin, p27(Kip1)(p27)/CDKN1B and p18(Ink4C)(p18)/CDKN2C with levels in benign cases.
|
21441703 |
2011 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
CDKN1B, encoding cyclin-dependent kinase inhibitor p27(kip1), has recently been implicated in a multiple endocrine tumor phenotype in rats and, rarely, in a human familial MEN1 (multiple endocrine neoplasia type 1)-like disorder.
|
21289244 |
2011 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date, six germline CDKN1B mutations have been found in patients with a MEN1-like phenotype but negative for MEN1 mutations.
|
20980721 |
2011 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening by conventional PCR sequence analysis of patients' peripheral blood DNA did not reveal any mutation in the MEN1 or CDKN1B gene.
|
21627674 |
2011 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The menin and p27(Kip1) expression levels were correlated with MEN1 mutation status that was confirmed by DNA analysis.
|
20616437 |
2010 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene.
|
20829611 |
2010 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although we have a limited number of patients in our cohort, our data is consistent with others in the literature suggesting that CDKN1B and AIP mutations are extremely rare in MEN1 syndrome.
|
18710468 |
2009 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The rarity of MEN1 mutations in some MEN1-like states aids the identification of other mutated genes, such as AIP, HRPT2 and p27(Kip1).
|
19407509 |
2009 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In multiple endocrine neoplasia type 1 (Men1), a mutation of menin caused decreased expression of the p27(Kip1) and p18(Ink4C) genes and deregulated cell growth.
|
19318494 |
2009 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations.
|
19522821 |
2009 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of CDKN1B, encoding the p27 cyclin-dependent kinase inhibitor, were reported to cause hyperparathyroidism in a multiple endocrine neoplasia type 1-like syndrome.
|
18288099 |
2008 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations.
|
17299066 |
2007 |
Multiple Endocrine Neoplasia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features.
|
17519308 |
2007 |