PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE Pax8 and Pax2 showed an identical staining pattern, and were expressed in all (100%) WT while most CCSK were negative. 28426529 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE She underwent a quadrantectomy (QSI) with an open biopsy of nodularity attached to the pectoral muscle fascia: on definitive histological characterization the breast lesions showed a high-grade invasive carcinoma, with papillary serum differentiation, and the immunohistochemistry study of breast lesion showed positivity for cytokeratin 7 and an extensive positivity for Wilm's tumor (WT)-1 and paired box 8 (PAX8). 30449229 2019
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE Immunohistochemistry results demonstrated Calretinin (+), D2-40 (-), Ki-67 (10%+), Vimentin (-), CK-pan (+), CK5/6 (-), WT-1 (-), PSA (+), SALL4 (-), Villin (-), CK20 (-), CK7 (-), PAX-8 (-), and TTF-1 (-). 30558081 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 GeneticVariation disease BEFREE Paired box genes, PAX-2 and PAX-8, are not frequently mutated in Wilms tumor. 16814811 2006
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE In cells transfected with PAX8-specific small interfering RNA, the stimulatory effects of hCG on WT1 mRNA levels were abolished, but hormonal enhancement of NIS mRNA levels was unchanged. 15961562 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE Possible regulation of Wilms' tumour gene 1 (WT1) expression by the paired box genes PAX2 and PAX8 and by the haematopoietic transcription factor GATA-1 in human acute myeloid leukaemias. 14531904 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE Thus, we identified a novel functional binding site for the transcription factor PAX 8, suggesting that part of its role in kidney development may be as a modulator of WT1 expression in the kidney. 9388203 1997
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE PAX8-mediated activation of the wt1 tumor suppressor gene. 8861958 1996
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE We have compared the expression patterns of PAX2, PAX8, and WT1 in fetal kidney and WTs by in situ hybridization. 7856737 1995
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 Biomarker disease BEFREE PAX2 and WT-1 expression were seen in all four primary WTs; PAX8 was seen in three of the four primary WTs. 7909843 1994
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.100 AlteredExpression disease BEFREE Unlike the classic triphasic Wilms' tumor that contains blastema, stroma, and epithelial tubules, the anaplastic tumor expressed only marginal levels of insulin-like growth factor 2 (IGF-2) mRNA and imperceptible levels of the Wilms' tumor gene (WT-1), Pax-2, and Pax-8 mRNA. 8178926 1994