|
Renal Angiomyoadenomatous Tumor
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Especially, the parafibromin and hKIM-1 expression exhibited differences in ccpRCC/RAT compared with ccRCC and pRCC.
|
25970683 |
2015 |
|
Von Hippel-Lindau Syndrome
|
0.010 |
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 |
|
Paraganglioma
|
0.010 |
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 |
|
Juvenile polyposis syndrome
|
0.010 |
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 |
|
Colon Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Effects of parafibromin expression on the phenotypes and relevant mechanisms in the DLD-1 colon carcinoma cell line.
|
23991985 |
2013 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
No correlation of parafibromin expression with tumor staging in ccRCCs, pRCCs and chRCCs, and Fuhrman nuclear grading in ccRCCs and pRCCs.
|
23361235 |
2012 |
|
Chromophobe Renal Cell Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Positive parafibromin stains are seen in 4 out of 61 ccRCCs (7%), 7 out of 37 pRCCs (19%), 12 out of 23 chRCCs (52%) and all 19 oncocytomas (100%).
|
23361235 |
2012 |
|
Oncocytic Neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In order to study the expression of parafibromin in a series of the 4 major renal cell tumors - clear cell renal cell carcinoma (ccRCC), papillary renal cell carcinoma (pRCC), chromophobe renal cell carcinoma (chRCC) and oncocytoma.
|
23361235 |
2012 |
|
Oxyphilic Adenoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In order to study the expression of parafibromin in a series of the 4 major renal cell tumors - clear cell renal cell carcinoma (ccRCC), papillary renal cell carcinoma (pRCC), chromophobe renal cell carcinoma (chRCC) and oncocytoma.
|
23361235 |
2012 |
|
Malignant transformation
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
These results show that EIF4EBP3 is a peripheral marker of CDC73 function distinct from MEN1-regulated pathways, and suggest a model whereby starvation resistance and/or translational de-repression contributes to parathyroid malignant transformation.
|
22297294 |
2012 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The Kaplan-Meier method indicated that nuclear parafibromin expression was positively correlated with adenocarcinoma patients (p<0.05).
|
21692036 |
2011 |
|
Hyperlipidemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified seven CNV regions that were associated significantly with hyperlipidemia and myocardial infarction in our patients through multistage analysis (P<0.001), at 1p21.3, 1q31.2 (CDC73), 1q42.2 (DISC1), 3p21.31 (CDCP1), 10q11.21 (RET) 12p12.3 (PIK3C2G) and 16q23.3 (CDH13), respectively.
|
22369086 |
2011 |
|
Myocardial Infarction
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We identified seven CNV regions that were associated significantly with hyperlipidemia and myocardial infarction in our patients through multistage analysis (P<0.001), at 1p21.3, 1q31.2 (CDC73), 1q42.2 (DISC1), 3p21.31 (CDCP1), 10q11.21 (RET) 12p12.3 (PIK3C2G) and 16q23.3 (CDH13), respectively.
|
22369086 |
2011 |
|
Carcinoma of lung
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
According to immunostaining and in situ hybridization, there was no difference in parafibromin expression between histological subtypes of lung carcinoma (p>0.05).
|
21692036 |
2011 |
|
Atrial Premature Complexes
|
0.010 |
Biomarker
|
disease |
BEFREE |
Parafibromin and APC as screening markers for malignant potential in atypical parathyroid adenomas.
|
20473645 |
2010 |
|
Transposition of Great Vessels
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 patients with parathyroid cancer, 1 had a germ-line mutation of the HRPT2 at exon 7, codon 234, CGA (Arg) to TGA (Stop), and 1 patient had a tumor-specific mutation at exon 1, nucleotide 34-37 delAACA.
|
20480190 |
2010 |
|
Recurrent tumor
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
HRPT2 gene mutation may be associated with tumor recurrence.
|
20480190 |
2010 |
|
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 patients with parathyroid cancer, 1 had a germ-line mutation of the HRPT2 at exon 7, codon 234, CGA (Arg) to TGA (Stop), and 1 patient had a tumor-specific mutation at exon 1, nucleotide 34-37 delAACA.
|
20480190 |
2010 |
|
Cachexia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Deletion of Hrpt2 in adult mice led to severe cachexia and death within 20 days.
|
18212049 |
2008 |
|
Hyperparathyroidism, Secondary
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease.
|
18338208 |
2008 |
|
Chronic Kidney Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
In secondary HPT due to chronic kidney disease (CKD), parathyroid carcinoma is very rare and whether HRPT2 plays a role in the carcinogenesis in these cases is not clear.
|
18338208 |
2008 |
|
Kidney Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene.
|
17130827 |
2007 |
|
Childhood Kidney Wilms Tumor
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In addition, two novel HRPT2 point mutations, causing K34Q and R292K changes in parafibromin, were detected in one clear cell carcinoma and one Wilms tumor, respectively.
|
17130827 |
2007 |
|
Malignant neoplasm of prostate
|
0.010 |
Biomarker
|
disease |
BEFREE |
The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer.
|
16211407 |
2005 |
|
Prostate carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The use of HPRT1 alone as a reference gene shown in our study was sufficient, but the normalization factors generated from two (HRPT1, ALAS1) or all three genes (HRPT1, ALAS1, K-ALPHA-1) should be considered for an improved reliability of normalization in gene profiling studies of prostate cancer.
|
16211407 |
2005 |