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 Coexisting intraepithelial carcinoma was detected in seven NECs and only one lesion showed the combination of diffuse RB loss and p16 overexpression. 30952735 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Head and neck HPV-NEC is a rare, aggressive entity that can show mixed small and large cell features and p16 upregulation; p53 and Rb are variable with limited diagnostic utility. 30475447 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In this phase II trial, patients with metastatic platinum-refractory UC molecularly selected for p16 loss and intact Rb by tumour immunohistochemistry received palbociclib 125 mg p.o. daily for 21 days of a 28-day cycle. 30293995 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The results showed a decline in the expression of SOX2, P16 and P27 after miR-340 over-expression, whereas we observed an increase in the expression of cyclin A2, CDK2, SOX17, P18, SMAD 4 and RB. 27229858 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE In addition, we report for the first time that resistance of KRAS-mutant NSCLCs to MEK inhibitor is, at least partly, due to p16 mutation status, and we described a drug combination that efficiently reactivates the RB tumor suppressor pathway to trigger radiosensitizing effects, apoptosis, and cell-cycle arrest. 26728409 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Univariate survival analysis revealed that the gene amplification of c-Myc (p = 0.008), Mdm2 (p = 0.020) and the gene deletion of p21 (p = 0.004), p16 (p = 0.015), and Rb1 (p = 0.028) were the independent predictive factor of 5-year OS for patients with TNBC. 24096545 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Genes most commonly associated with the process of oncogenesis include: p53 inactivating mutation; hDM2 overexpression; p16 reduced expression; K-/H-RAS activating mutation; PTEN inactivating mutation/deletion; EGFR activating mutation and overexpression; retinoblastoma inactivating mutation and deletion; Cyclin proteins overexpression; CD95 reduced expression; protective BCL-2 proteins overexpression; to name but just a few of such molecules. 23974512 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE We further provide evidence for an interaction of SATB1 with the retinoblastoma (RB)/E2F pathway downstream of p16. 23686316 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The protein and mRNA expressions of cyclin D1, proliferating cell nuclear antigen (PCNA), retinoblastoma (Rb), and p16 were observed with immunofluorescence and RT-PCR, respectively. 22139542 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Several molecules such as retinoblastoma and p16 were raised as key factors in tumorigenesis and invasiveness. 21565925 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Studies on Radiation Therapy Oncology Group tissue samples have identified aberrant expression of p53, MDM2 (an E3 ubiquitin ligase that targets p53 for proteosomal degradation), and p16 (an upstream regulator of retinoblastoma and hence E2F1 in prostate cancer); abnormal expression of these biomarkers has been associated with clinical outcome after radiotherapy ± androgen deprivation therapy. 20832018 2010
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
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 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 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 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 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 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