Recombinant Human Parafibromin (CDC73)

1. post-transcriptional down-regulation of CDC73 contributed to cellular senescence. PMID: 29621547
2. The HPT-JT syndrome - multiple Parathyroid Adenomas, Parathyroid Carcinomas in 15% of patients, as well as Fibro-osseous Jaw tumours (in 35% of patients) results from mutations of the CDC73 (HRPT2) gene (encoding parafibromin). PMID: 27864865
3. CDC73 mutations are major driver mutations in the etiology of parathyroid carcinomas (PCs). PMID: 28881068
4. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13.1), and the HPT-JT syndrome is due to pathogenic CDC73 variants (1q25). PMID: 28674121
5. Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation. PMID: 28394026
6. Pathogenic germline CDC73 variants were identified in primary hyperparathyroidism patients, with (suspected) hyperparathyroidism-jaw tumor syndrome familial isolated primary hyperparathyroidism and apparently sporadic parathyroid carcinoma PMID: 29040582
7. Data suggest that down-regulated parafibromin (HRPT2; CDC73) expression might be closely linked to colorectal carcinogenesis and cancer differentiation. PMID: 28223542
8. A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified. PMID: 28774260
9. Germline mutation of HRPT2 is associated with parathyroid carcinoma. PMID: 27544721
10. parafibromin downregulation might promote the pathogenesis, dedifferentiation and metastasis of ovarian cancers possibly by suppressing aggressive phenotypes, such as proliferation, cell cycle, apoptosis, migration and invasion. PMID: 26409451
11. We suggest that parafibromin may be a possible prognostic and predictive parameter for breast carcinomas PMID: 26832176
12. These findings suggest that downregulated expression of parafibromin protein plays an important role in the pathogenesis, differentiation, and metastasis of head and neck squamous cell carcinomas PMID: 26124004
13. Parafibromin interacted with JAK1/2, promoted the interactions of JAK1-JAK2 and JAK1/2-STAT1, and promoted tyrosine phosphorylation of STAT1 by JAKs after IFN-gamma stimulation. PMID: 26232434
14. targets and destabilizes p53 mRNA to control p53-mediated apoptosis PMID: 25388829
15. Data report a novel mutation in the CDC73 gene that may underlie HPT-JT syndrome. PMID: 25113791
16. 3 unrelated Chinese families with familial isolated primary hyperparathyroidism and 1 with hyperparathyroidism-jaw tumour syndrome were described; genetic analysis revealed 4 germline mutations that were responsible for the 4 kindreds including 2 novel point mutations, 1 recurrent point mutation and 1 deletion mutation PMID: 24716902
17. gene expression profiling experiments suggest that upregulated FGFR1 expression appears to be associated with parathyroid carcinoma in HPT-JT syndrome due to an HRPT2 splicing mutation PMID: 24889687
18. A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with familial primary hyperparathyroidism with parathyroid carcinoma. PMID: 24823466
19. Mutations within the nucleolar localisation signals of the CDC73 gene led to instability either of the corresponding mutated protein or mRNA or both. PMID: 24340015
20. Negative parafibromin staining is associated with malignant behavior in atypical parathyroid adenomas. PMID: 24081804
21. Genetic analysis of a patient with hyperparathyroidism-jaw tumor revealed a novel nonsense mutation in exon 1 of CDC73 PMID: 23757631
22. Data indicate that overexpression of Wilms tumor 1 gene (WT1) decreased CDC73 levels and promoted proliferation of oral squamous cell carcinoma (OSCC) cells. PMID: 24257751
23. We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy. Genetic tests revealed HRPT2 mutation. PMID: 24121387
24. High parafibromin expression is associated with colorectal carcinomas. PMID: 23991985
25. Twenty cases of CCPRCC were stained for parafibromin and showed diffuse and strong nuclear positivity for this marker PMID: 23060304
26. The contribution of HRPT2 inactivation to the pathogenesis of OF, FD, and OS is marginal at best and may be limited to progression rather than tumor initiation. PMID: 23453027
27. CDC73 mutations and negative immunostaining were common in atypical parathyroid adenomas PMID: 22987117
28. we have firstly demonstrated the high prevalence of HRPT2/CDC mutations and loss of expression of its corresponding protein in clinically sporadic parathyroid carcinomas in Chinese population. PMID: 23029104
29. Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation PMID: 23166327
30. CDC73-mutated carcinomas displayed losses in chromosome 1p and loss of the entire chromosome 13 which are not seen in CDC73-mutated adenomas. PMID: 23029479
31. Complete loss of parafibromin expression was seen in 9 of 15 (60%) carcinomas, and all normal parathyroid tissues and parathyroid benign tumors stained positive for parafibromin except for one (4%) adenoma. PMID: 22932087
32. germ-line inactivating mutations in CDC73 gene are common in young patients with clinically non-familial primary hyperparathyroidism PMID: 22187299
33. identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X associated with parathyroid neoplasm PMID: 21732217
34. These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation. PMID: 17555500
35. Mutational analysis of the CDC73 gene identified 8 sequence changes, 3 of them have been reported previously, whereas 5 are novel: c.1346delG, c.88_94delTTCTCCT, non-coding variants, c.307+5G>T and c.424-5T>C and c.*12C>A of unknown significance. PMID: 21652691
36. Parafibromin expression could be employed to indicate the favorable prognosis of patients with adenocarcinoma. PMID: 21692036
37. It was suggested that parafibromin overexpression might suppress cell cycle progression and promote differentiation of DLD-1 cells. PMID: 21315421
38. The demonstrated absence of nucleolar parafibromin in three carcinomas with HRPT2 mutations suggests that parafibromin exhibits nucleolar tumour suppressor properties also in vivo. PMID: 21221636
39. Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma PMID: 21240254
40. Detected HRPT2 mutation in parathyroid carcinoma or atypical parathyroid adenoma in sporadic hyperparathyroidism in Thai patients. PMID: 21717873
41. The present data suggests that patients with apparently sporadic parathyroid carcinomas, or parathyroid tumors with atypical histological features, should undergo molecular genetic testing, as it may detect germline HRPT2 mutations. PMID: 21360064
42. HRPT2 (replaced with this gene ID 79577) gene mutation may be associated with tumor recurrence. PMID: 20480190
43. analysis of the cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors PMID: 20052758
44. The stability of the altered HRPT2 transcripts and translation products produced in the hyperparathyroidim-jaw tumors syndrome, was investigated. PMID: 20541447
45. The simultaneous loss of nucleolar localization and acquisition of a growth stimulatory phenotype with the L95P mutation raise the possibility that parafibromin must interact with targets in the nucleolus to fully execute its tumor suppressor functions. PMID: 20304979
46. Alternative mechanisms such as mutation in intronic regions, additional epigenetic regulation, or other regulatory inactivation mechanisms may play a role in the loss of parafibromin expression. PMID: 20026646
47. This gene is now identified as associated with the hyperparathyroidism-jaw tumor syndrome. PMID: 12434154
48. It is hypothesised that HRPT2 mutation is an early event that may lead to parathyroid malignancy and suggest intragenic mutation of HRPT2 as a marker of malignant potential in both familial and sporadic parathyroid tumours. PMID: 12960210
49. among 32 familial isolated hyperparathyroidism families, only a single one was found to have a mutation in parafibromin (HRPT2) gene PMID: 14715834
50. genotype phenotype analysis in familial isolated hyperparathyroidism PMID: 14985373

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HGNC: 16783

OMIM: 145000

KEGG: hsa:79577

STRING: 9606.ENSP00000356405

UniGene: Hs.378996