H3P10, H3 histone pseudogene 10, 115482713

N. diseases: 769; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Gene and protein transfer experiments demonstrated that concurrent alterations of cyclin D1 and p16 levels cooperate to (de)regulate G1 control in diploid fibroblasts, and that both events influence growth of retinoblastoma (RB)-positive, but not RB-deficient cancer cells. 7585513 1995
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The growth suppressing activity of the retinoblastoma suspectibility gene product, pRb, is down regulated by cyclin-dependent kinases 4 and 6 (CDK4 and CDK6) whose kinase activity is negatively regulated by CDK inhibitors of the p16 family. 8570224 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The inverse correlation of Rb and p16 defects in certain human tumors has led us to investigate the expression of p16 in human pituitary tumors as an indirect mechanism of Rb inactivation. 8653683 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE In addition, the expression of RB and p16 protein was examined by Western blot analysis. 8674005 1996
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Previously, we reported that loss of p16 expression rather than loss of Rb occurs in most human pituitary adenomas. 9290697 1997
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE Immortal HUCs and bladder cancer cell lines show either alteration of p16 or pRb, the product of the retinoblastoma (RB) TSG. 9436977 1998
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Paraffin sections of 9 reactive lymph nodes and 43 low-grade and 60 high-grade malignant lymphomas were reacted with antibodies against pRB and p16. 9620022 1998
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE These data suggest that p16 inactivation is selected as the most effective mechanism of blocking the cyclin D-Rb pathway during the evolution of an invasive cancer from precursor lesions. 10535995 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The p16 gene expresses two alternative transcripts (p16alpha and p16beta) involved in tumor suppression via the retinoblastoma (Rb) or p53 pathways. 10498902 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE Our data indicate that in spite of low or absent p16 expression, genetic alterations of the p16 and Rb tumour suppressor genes are rare in endometrial carcinogenesis. 10071231 1999
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE In familial cutaneous malignant melanoma (CMM), disruption of the retinoblastoma (pRB) pathway frequently occurs through inactivating mutations in the p16 (p16INK4A/CDKN2A/MTS1) gene or activating mutations in the G1-specific cyclin dependent kinase 4 gene (CDK4). 10732752 2000
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE We examined the expression levels of the p16, p15, p14, and retinoblastoma-susceptibility (RB) genes in primary prostate cancers and human prostate cancer cell lines, and correlated this with the DNA methylation levels of two loci in p16. 10797499 2000
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE At present, the most useful methods of risk assessment are those performed on the following genes: BRCA1 and BRCA2 especially for hereditary breast and ovarian cancer, hMLH1 and hMSH2 for hereditary non polyposis colorectal cancer, APC for familial adenomatous polyposis, ret for medullary thyroid carcinoma, p53 for the Li-Fraumeni syndrome, p16 for melanoma and RB1 for retinoblastoma. 11205230 2001
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Strong immunoreactivity for p16 protein was observed in both nuclei and cytoplasm of the tumor cells in eight out of nine cases of eccrine porocarcinomas, while RB expression was negative in these cases. 12207741 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The p16 protein transcriptionally inhibits expression of retinoblastoma tumor-suppressor gene pRB. 11792751 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The p16 gene regulates cyclin D1-CDK4 activity and prevents retinoblastoma tumor suppressor gene phosphorylation, thereby downregulating cellular proliferation. 12148857 2002
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE In the TBP-2-overexpressing cells, a G1 arrest was observed in association with an increase of p16 expression and reduction of retinoblastoma phosphorylation. 14983878 2004
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Although the underlying molecular-genetic pathways are not yet fully understood, the current results suggest functional reduction of the tumor suppressor genes Rb and p16 to be associated with progression of bladder cancer to a more malignant and aggressive behaviour. 15161057 2004
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Retinoblastoma (Rb) downregulation by HPV E7 results in p16 upregulation. 16401683 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE VRK1 protein levels increase in response to E2F1 and are reduced by retinoblastoma and p16. 16547155 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The second set of genetic alterations are etiological nonspecific, it includes recurrent gains and losses of chromosomes, alteration of TP53 gene, activation of WNT/beta-catenin pathway through CTNNB1/beta-catenin and AXIN (axis inhibition protein) mutations, inactivation of retinoblastoma and IGF2R (insulin-like growth factor 2 receptor) pathways through inactivation of RB1 (retinoblastoma 1), P16 and IGF2R. 16799619 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 PosttranslationalModification disease BEFREE Alterations of the retinoblastoma and p16 pathway correlate with promoter methylation in malignant fibrous histiocytomas. 17094467 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE In addition, recent knock-out mouse studies implicated PPM1D in the regulation of p16 expression and the RB tumour suppressor pathway. 16254685 2006
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The inverse relationship between p16 and Rb was 62.5% (5/8). 17549378 2007
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE At least 1 of these abnormalities was found in 86% of the cases and a positive correlation was noted between p16 and pRb (P = 0.009). 18484097 2008