|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia.
|
28874394 |
2018 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
<i>Parathyroid carcinoma.</i> Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, non-functioning parathyroid carcinomas are also rarely described in individuals with a <i>CDC73-</i>related disorder.
|
29692167 |
2018 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
Screening for the mutated CDC73 confirmed carrier status in the proband's daughter and the biochemistry and ultrasonography led to pre-emptive surgery and resolution of the hyperparathyroidism.
|
28774260 |
2017 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the human CDC73/HRPT2 gene are associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant disorder.
|
29142233 |
2017 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.
|
28394026 |
2017 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
MGD |
Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome.
|
28288139 |
2017 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We briefly review published childhood cases, consider the challenges in differentiating malignant from benign hyperparathyroidism in this age group, and discuss the association of CDC73 mutations with parathyroid carcinoma.
|
26650250 |
2016 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case illustrates that the hyperparathyroidism and the fibro-osseous tumors are independent features of the persistent germline tumor suppressor gene (CDC73) mutation.
|
25511968 |
2015 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
HRPT2- (CDC73) RELATED HEREDITARY HYPERPARATHYROIDISM: A CASE SERIES FROM WESTERN INDIA.
|
26121439 |
2015 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.
|
26163537 |
2015 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To present the case of a hyperparathyroidism-jaw tumor (HPT-JT) patient with a novel nonsense mutation of the CDC73 gene.
|
23757631 |
2014 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.
|
25113791 |
2014 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In 2002, germline HRPT2 (also known as CDC73) mutation was reported as the cause of hyperparathyroidism-jaw tumor (HPT-JT) syndrome, an autosomal dominant hereditary tumor syndrome associated with a lifetime risk of parathyroid carcinoma approaching 15 %.
|
24402736 |
2014 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the CDC73 gene [for Hyperparathyroidism-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44 K) were all normal.
|
23242522 |
2013 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hyperparathyroidism type 2 (HRPT2/CDC73) gene and alterations in the parafibromin protein have been established in the majority of parathyroid carcinomas and in subsets of parathyroid adenomas.
|
23029479 |
2012 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to investigate the underlying HRPT2 defect in a young patient with symptomatic hyperparathyroidism due to an apparently sporadic parathyroid adenoma with cystic features.
|
21790700 |
2012 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We recommend that these be conducted at a younger age, preferably 5 to 10 years before the earliest diagnosis of hyperparathyroidism within the family, and potentially at birth in families with a known mutation of the CDC73 gene, in light of the malignant potential of the disease.
|
21324824 |
2012 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum.
|
21652691 |
2011 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
Inactivation of the HRPT2/CDC73 gene, encoding the putative tumor-suppressor protein parafibromin and discovered in the context of the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, is a common, somatic event in most parathyroid cancers.
|
21167377 |
2010 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The development of parathyroid carcinoma has been associated with inactivating mutations of the Hyperparathyroidism type 2 (HRPT2) gene encoding parafibromin, a member of the human RNA Polymerase II-Associated Factor Complex (hPAF) and functionally linked to the Wingless type (Wnt) pathway.
|
19148484 |
2009 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HRPT2, the gene responsible for hereditary hyperparathyroidism with jaw-tumor syndrome, were strongly associated with sporadic parathyroid carcinoma.
|
19350316 |
2009 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment.
|
19169472 |
2008 |
|
Hyperparathyroidism
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
An unacceptable recurrence/persistence rate (80%) associated with increasingly difficult re-operations and risk of parathyroid carcinoma in the setting of germline mutations of HRPT2 gene with familial hyperparathyroidism suggest that a more aggressive operative approach should be undertaken in these patients.
|
18436011 |
2008 |
|
Hyperparathyroidism
|
0.400 |
Biomarker
|
disease |
BEFREE |
The parafibromin subunit of the hPAF complex is a product of the HRPT-2 (hereditary hyperparathyroidism type 2) tumor suppressor gene, which is mutated in the germ line of hyperparathyroidism-jaw tumor patients.
|
17599057 |
2007 |
|
Hyperparathyroidism
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Parafibromin expression was evaluated and compared with that in normal parathyroids and in adenomas arising in sporadic hyperparathyroidism.
|
18063086 |
2007 |