POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE In order to furnish a combined model of relevance to human inclusion-body myopathy and Alzheimer's disease, transgenic mice expressing human betaAPP-C99 in skeletal muscle and brain under the control of the cytomegalovirus/beta-actin promoter were produced (Tg13592). 15261330 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE The levels of peroxidation handling (CAT, GSHPx, and GSSG-R) mRNAs normalized to beta-actin mRNA level were elevated in hippocampus and inferior parietal lobule, but not in cerebellum of AD patients, which may reflect the protective gene response to the increased peroxidation in the brain regions showing severe AD pathology. 10096042 1998
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 Biomarker disease BEFREE To assess the importance of potential confounders TaqMan real-time RT-PCR was used to measure seven mRNAs (beta-actin, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), cyclophilin, microtubule-associated protein (MAP) 2, neuron-specific enolase (NSE), glial fibrillary acidic protein (GFAP), amyloid precursor protein (APP) isoform 770) in cortical samples taken from 90 Alzheimer's disease (AD) and 81 control brains. 14559355 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE Cytochrome b-c1 complex subunit 6, beta-actin, dynamin 1, and heat shock cognate 71 were up-regulated in AD+BB group, while a-enolase, stress-induced-phosphoprotein 1, malate dehydrogenase (MDH), MDH 1, and T-complex protein 1 subunit beta were down-regulated, respectively. 29781405 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE Using a fluorophore-labeled peptide nucleic acid (PNA) attached to GO, the endogenous long noncoding RNA BC1, the constitutive protein β-actin mRNA, and miR-124a and miR-21 could be detected in the cytoplasm of a normal mouse brain, primary cultured hippocampal neurons, an Alzheimer's disease model mouse brain, and glioblastoma multiforme tumor tissues, respectively. 30594658 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE We found significantly increased DNAse I transcripts in brain of DS and AD both, when normalized versus the house-keeping gene beta actin or total RNA. 10666689 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE Frequently used housekeepers such as glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and β-actin had lower overall expression in AD and AD/LBD cases than in controls. 21044776 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE The amount of nDNA-encoded beta-actin mRNA and the amount of 28S rRNA were not altered in either region of the AD brain. 9030703 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 AlteredExpression disease BEFREE Further, using real-time PCR analysis, we found that beta-actin and 18S rRNA are differentially expressed in the brain specimens of both AD and control subjects, while GAPDH is similarly expressed in AD and control brain specimens. 14687679 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE Expression of CMAR was assessed by quantitative PCR using beta-actin as an internal standard.A 4 b.p. insertion polymorphism at nucleotide 241 of the CMAR coding region was then investigated using extracted RNA to assess the relationship between the expression of variant mRNA of CMAR and HCC carcinogenesis. 9794184 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE DNA MTase mRNA levels were significantly higher in liver tissue showing chronic hepatitis and cirrhosis (DNA MTase mRNA/beta-actin mRNA ratio = 0.30 +/- 0.22, n = 24, P < 0.01) than in normal liver tissue either from patients with liver metastatic lesions of colonic cancer (0.14 +/- 0.05, n = 6) or from patients with HCCs (0.16 +/- 0.07, n = 3). 9473734 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE Real-time RT-PCR showed that IL-32α mRNA was significantly overexpressed in HCC tumor tissues (IL-32/β-actin, 15.59±7.8 vs. 3.37±0.47; P<0.01). 29286122 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE The homologous proteins are: KH domain-containing protein overexpressed in cancer (Koc); zipcode binding protein, a protein which binds to a conserved nucleotide element in chicken beta-actin mRNA (ZBP1); and a protein which binds to a promoter cis element in Xenopus laevis TFIIIA gene (B3). p62 protein is cytoplasmic in location, and autoantibodies were found in 21% of a cohort of HCC patients. 10190901 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE The mean p27Kip1 mRNA expression levels (ratio of p27Kip1/beta-actin mRNA) were significantly lower in hepatocellular carcinomas than in non-cancerous liver tissues (0.49 +/- 0.24 versus 0.57 +/- 0.22, P < 0.05). p27Kip1 mRNA expression was reduced in 11 (52%) of the 21 hepatocellular carcinomas when compared with the surrounding non-cancerous liver tissues. 10397455 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE We investigated the effects of AFP gene silencing by siRNA on apoptosis and proliferation of hepatocellular carcinoma cell line EGHC-9901, which highly expresses AFP and may serve as an ideal model for investigation of AFP functions. siRNA expressing plasmid targeting the AFP gene was first established and subsequently transfected into hepatocellular carcinoma cell line EGHC-9901; cells were then divided into three groups: siRNA-afp, transfected with AFP-siRNA; siRNA-beta-actin, transfected with siRNA-beta-actin as the positive group; and vector control, transfected with empty vector as the blank control group. 22935208 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE We evaluated the expression level of MMR genes in 33 hepatocellular carcinoma (HCC) cases using the multiplex reverse transcription (RT) PCR assays, as well as in 16 cases of normal adjacent hepatic tissues. beta-actin gene was used as an internal control and calibrator for quantification of gene expression. 15918183 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 GeneticVariation disease BEFREE Serotypes 1-10 scAAV vectors that included enhanced green fluorescent (egfp) reporter gene driven by either cytomegalovirus (CMV) or chicken beta-actin (CBA) promoters were analyzed for transduction ability of HB (Huh-6) and HCC (Huh-7 and HepG2) cell lines and primary cultures of normal human hepatocytes. 19586787 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 AlteredExpression disease BEFREE We found that, compared with corresponding noncancerous liver tissues, PTTG1 was remarkably overexpressed in HCCs (PTTG1/beta-actin; 0.443 +/- 0.073 vs. 0.068 +/- 0.007; P < .0001). 16628605 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE This stoichiometrical ratios were aberrant in DS, AD and PD with the main outcome that ratios of members of the neurocytoskeleton (betaIII, NF's) in relation to betaA were remarkably decreased. 15068247 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE We found significantly increased mRNA levels in DS either related to 10 ng total RNA (P < 0.05 level in cerebellum: DS 2622 +/- 1081 attogr mean +/- SEM and controls 154 +/- 37 attogr. mean +/- SEM) or normalized versus the house keeping gene beta-actin (P < 0.05 level in frontal cortex: DS 1324 +/- 504 attogr. mean +/- SEM and control 131 +/- 32 attogr. mean +/- SEM; P<0.01 in cerebellum: DS 632 +/- 189 attogr. mean +/- SEM and control 21 +/- 2 attogr. mean +/- SEM). 12499044 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 Biomarker disease BEFREE Significantly decreased ETS2 mRNA steady state levels (16.9 +/- 26.7 attogram mRNA ETS2/10 ng total RNA versus 87.7 +/- 92.9 in controls) in frontal lobe of Down Syndrome brain and decreased ETS2 mRNA steady state levels (6.99 +/- 6.4 attogram mRNA ETS2/100 pg beta-actin versus 19.8 +/- 15.7 in controls) in temporal lobe of Down Syndrome brain were found. 10666682 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE When normalized versus the housekeeping gene beta-actin to rule out general transcriptional changes in that disorder, the ratio of 0.56 +/- 0.28 (mean, +/- SD) was calculated. ets-2 mRNA in total ventricular tissue of patients with non-DS CHD showed concentrations of 0.45 +/- 0.22 fg/10 ng total RNA (mean, +/-SD) and ratios of 0.48 +/- 0.35 (mean, +/-SD). 9918849 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 Biomarker disease BEFREE BACH1 was even significantly increased in the DS panel when normalised versus the housekeeping protein beta-actin (p < 0.01) or the neuron specific enolase (p < 0.01). 15068251 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE As one of the hypotheses for the pathogenesis of brain damage in DS is oxidative stress and cells of patients with DS are more susceptible to ionizing irradiation, we decided to study ERCC2, ERCC3 and XRCC1, representatives of repair genes known to be involved in the repair of oxidative DNA-damage. mRNA steady state levels of ERCC2, ERCC3, XRCC1, a transcription activator (TAF-DBP) and an elongation factor (EF1A) were determined and normalized versus the housekeeping gene beta-actin in five individual brain regions of nine controls and nine DS patients. 10328528 1999
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.070 AlteredExpression disease BEFREE Significantly increased levels of mRNA c-fos normalized versus the housekeeping gene beta-actin mRNA were found in frontal, parietal and temporal cortex of DS brain. c-fox mRNA levels comparable to controls were found in occipital cortex and cerebellum. 10666669 1999