Genes (24)
Species: human : 24 | |
Human | PPP1R1B | 84152 | protein phosphatase 1, regulatory (inhibitor) subunit 1B | Monoclonal antibodies were used to demonstrate DARPP-32-like immunoreactivity (LI) in chief cells of the normal human parathyroid gland and in cells of human parathyroid adenoma. | Human | CDC73 | 79577 | cell division cycle 73 | HRPT2 inactivation is not an important participant in the pathogenesis of typical parathyroid adenomas Solitary parathyroid adenomas (rarely multiple) | Human | GCM2 | 9247 | glial cells missing homolog 2 (Drosophila) | DESIGN/PATIENTS: To identify Gcm2 transcripts in human non-neural tissues and to examine whether Gcm2 is involved in parathyroid gland tumorigenesis we analysed Gcm2 transcript levels in several non-neural tissues by reverse transcriptase polymerase chain reaction (RT-PCR) and performed real-time quantitative RT-PCR analysis on five normal glands, 15 parathyroid adenomas of primary hyperparathyroidism (HPT) and nine hyperplastic glands of secondary HPT. RESULTS: We found high Gcm2 mRNA expression in human parathyroid glands in comparison with other non-neural tissues and underexpression in parathyroid adenomas but not in lesions of HPT secondary to uraemia. There was no difference in the level of GCMB mRNA expression between parathyroid adenoma, hyperplasia, and cancer. | Human | SYP | 6855 | synaptophysin | Synaptophysin (protein p38) immunoreactivity has been detected immunohistochemically in neuroendocrine cells of the human adrenal medulla, carotid body, skin, pituitary, thyroid, lung, pancreas and gastrointestinal mucosa as well as in 87 out of 93 neuroendocrine tumours investigated, including pheochromocytomas, chromaffin and non-chromaffin paragangliomas, ganglioneuromas, pituitary adenomas, thyroid medullary carcinomas, parathyroid adenomas, lung carcinoids and neuroendocrine carcinomas, pancreatic and gut endocrine tumours and cutaneous merkelomas. | Human | RET | 5979 | ret proto-oncogene | | Human | RAD51 | 5888 | RAD51 recombinase | RAD51 was therefore analysed as a candidate tumour suppressor gene in a group of parathyroid adenomas for which mutations in a 15q tumour suppressor should be most readily detectable. RESULTS: RAD51 mRNA expression was substantiated in all parathyroid adenomas. PATIENTS AND DESIGN: From a total of 55 parathyroid adenomas, nine were selected based on their LOH pattern showing DNA loss at chromosome 15q in the vicinity of the RAD51 gene. | Human | NRGN | 4900 | neurogranin (protein kinase C substrate, RC3) | In this study, we attempted to determine the presence of calmodulin-binding protein in human parathyroid adenoma by affinity chromatography. | Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | | Human | MEN1 | 4221 | multiple endocrine neoplasia I | deletion of the MEN1 locus at 11q13 or loss of a large portion or an entire chromosome 11 was a common finding in parathyroid adenoma and hyperplasia | Human | SMAD3 | 4088 | SMAD family member 3 | To determine whether Smad3 plays a primary role in development of these tumors, 20 enteropancreatic tumors and 67 parathyroid adenomas were investigated for loss of heterozygosity at DNA markers surrounding Smad3. Mutational analysis of Smad3, a candidate tumor suppressor implicated in TGF-beta and menin pathways, in parathyroid adenomas and enteropancreatic endocrine tumors. | Human | LRP2 | 4036 | low density lipoprotein receptor-related protein 2 | A decreased expression of calcium receptor (CaR) messenger ribonucleic acid (mRNA) and protein and a decreased expression of the putative calcium-sensing CAS (gp330/megalin) protein have been demonstrated in parathyroid adenomas. No evidence for aberrant LRP-2 gene methylation in parathyroid adenomas, in which the LRP-2 protein is generally down-regulated, was found. Identification of a CpG island in the human LRP-2 gene and analysis of its methylation status in parathyroid adenomas. | Human | IAPP | 3375 | islet amyloid polypeptide | In MEN1 patients with hypercalcaemia due to increased secretion of parathyroid hormone, the plasma levels of IAPP were significantly higher before than after surgical removal of the parathyroid adenomas. | Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | Identification of a novel activated form of the keratinocyte growth factor receptor by expression cloning from parathyroid adenoma tissue. | Human | EPOR | 2057 | erythropoietin receptor | Erythropoietin receptor is present in normal parathyroid, parathyroid adenoma, and hyperplasia | Human | CXADR | 1525 | coxsackie virus and adenovirus receptor | RESULTS: In parathyroid adenomas (n = 12) the CaR mRNA was 19.2 +/- 2.4 (mean +/- SE) fg/ng total RNA (range, 7.4 to 32.8 fg/ng). In the present study, we examined the presence of mutations in the CaR gene in 20 parathyroid adenomas using direct sequencing. | Human | CTNNB1 | 1499 | catenin (cadherin-associated protein), beta 1, 88kDa | Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas No evidence of mutations in parathyroid adenomas | Human | CHGB | 1114 | chromogranin B (secretogranin 1) | Focal chromogranin B positivity (less than 10% of cells) was found in 3 cases (1 hyperplastic gland and 2 cases of parathyroid adenoma with an immunohistochemical staining pattern similar to hyperplastic glands). A differential distribution of chromogranins A and B was seen in pituitary prolactinomas, which expressed abundant chromogranin B but not chromogranin A mRNAs, and in parathyroid adenomas, which expressed abundant chromogranin A but only small amounts of chromogranin B mRNAs. | Human | CDKN2C | 1031 | cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) | These observations indicate that inactivating mutation of the p18 gene occurs uncommonly, if at all, in parathyroid adenomas. CONCLUSION: Parathyroid adenomas and secondary hyperplastic glands exhibit aberrant reduced expression of the CKIs p18, p21, and p27. Furthermore, 42% and 53% of the parathyroid adenomas displayed undetectable p18 and p21 expression levels, respectively. To examine the involvement of p18 in parathyroid tumorigenesis, we analyzed 25 parathyroid adenomas for mutations of the p18 coding exons by single strand conformational polymorphism analysis and sequencing. DESIGN: In order to quantify the expression of the CKI genes p18, p21, and p27 semiquantitative RT-PCR with mRNA specific-primers was performed on four normal parathyroid biopsies, 31 parathyroid adenomas of primary HPT and 13 hyperplastic glands from uraemic patients with secondary HPT. | Human | CDKN2B | 1030 | cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) | Loss of chromosome arm 9p DNA and analysis of the p16 and p15 cyclin-dependent kinase inhibitor genes in human parathyroid adenomas. These observations indicate that inactivating mutations or homozygous deletions of the p16 and p15 genes occur uncommonly, if ever, in parathyroid adenomas; however, loss of a different tumor suppressor gene (or genes) on 9p appears to contribute to the pathogenesis of a significant percentage of these tumors. Because inactivation of the p16 or p15 genes might be expected to result in oncogenic consequences similar to those from cyclin D1 overexpression, we examined 25 parathyroid adenomas for 1) allelic loss of polymorphic DNA loci on chromosome arm 9p, 2) homozygous deletions of the p16 and p15 genes by Southern blot analysis, and 3) mutations of the p16 and p15 genes by single strand conformational polymorphism analysis. | Human | CAV1 | 857 | caveolin 1, caveolae protein, 22kDa | Decreased expression of caveolin-1 and altered regulation of mitogen-activated protein kinase in cultured bovine parathyroid cells and human parathyroid adenomas. | Human | CASR | 846 | calcium-sensing receptor | Quantitative analysis of the calcium-sensing receptor messenger RNA in parathyroid adenomas. Clinical, biochemical, and genetic examinations confirmed the diagnosis of familial hypocalciuric hypercalcemia as a result of C562Y calcium-sensing receptor mutation, and a coexisting parathyroid adenoma. Decreased expression of calcium-sensing receptor messenger ribonucleic acids in parathyroid adenomas. Decrease in vitamin D receptor and calcium-sensing receptor in highly proliferative parathyroid adenomas. Although a reduction of calcium sensing receptor expression is probably involved in the poor inhibition of PTH release induced by [Ca2+]o, this is not the only factor altering [Ca2+]o sensing in parathyroid adenomas, since tumours characterized by different in vitro sensitivity to [Ca2+]o showed similar CaSR levels. Accordingly, we examined VDR and CaSR expression in parathyroid adenomas. The mean (SD) intensity of CaSR expression was 151 (4.71) units in parathyroid adenomas and 218 (5.0) units in nonadenomatous tissue (P<0.001). Histological analyses showed that expression of the parathyroid calcium-sensing receptor (CaSR) is decreased in parathyroid adenomas. No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas. Calcium-sensing receptor expression and signalling in human parathyroid adenomas and primary hyperplasia. Cloning and characterization of two promoters for the human calcium-sensing receptor (CaSR) and changes of CaSR expression in parathyroid adenomas. In order to clarify the role of CaSR in the reduced [Ca2+]o sensing of parathyroid neoplasia we investigated PTH secretion and intracellular effectors triggered by CaSR activation as well as the levels of expression of CaSR and CaSR coupled G proteins (Gq/G11) in parathyroid adenomas and primary hyperplasia. Because reduced expression of CaSR may result in insufficient suppression of parathyroid hormone secretion, the elucidation of regulatory mechanisms of CaSR expression is indispensable for understanding the pathogenesis of parathyroid adenomas. | Human | BMI1 | 648 | BMI1 polycomb ring finger oncogene | Changes in expression associated with tumoral transformation have been found for BMI1 and RNF2, which exhibited increased expression in a large series of tumors, including gastrointestinal tumors, pituitary and parathyroid adenomas, and lymphomas, compared with their expression in normal-cell counterparts. | Human | BCL2 | 596 | B-cell CLL/lymphoma 2 | The weak immunoreactive expression of p53, combined with a relatively strong expression of bcl-2 contributes to the characteristic slow progression of parathyroid adenoma | Human | CCND1 | 595 | cyclin D1 | Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas |
|