POTEM, POTE ankyrin domain family member M, 641455

N. diseases: 133; N. variants: 1
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
0.100 AlteredExpression disease BEFREE ACT levels were higher in AD patients than in CIND or controls. 18991685 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE ACT measurements in cerebrospinal fluid from an additional 34 AD cases and 16 controls showed elevated levels (p = 0.02) in AD. 12509851 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE ACT serum levels were higher in women with AD that in female and male controls. 10629358 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE We describe a novel ACT platform with antitumor activity in murine and human tumor models with a distinct mode of action that combines adoptive T-cell therapy with bispecific antibodies. 31285373 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Finally, we measured α1-ACT expression to evaluate its correlation with the PI3K/AKT/mTOR pathway-related apoptosis proteins in a xenograft tumour mouse model using immunohistochemistry. 28456796 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 AlteredExpression disease BEFREE We investigated alpha1-antichymotrypsin (ACT) gene expression in xenograft tumors generated by two isogenic human breast cancer cell lines derived from the same parent, MDA-MB-435, which display opposite metastatic behaviors. 15811132 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE We investigated alpha1-antichymotrypsin (ACT) gene expression in xenograft tumors generated by two isogenic human breast cancer cell lines derived from the same parent, MDA-MB-435, which display opposite metastatic behaviors. 15811132 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 AlteredExpression disease BEFREE Using quantitative reverse transcription-polymerase chain reaction (QRT-PCR), we confirmed the expression of hepatocellular carcinoma upregulated (HULC), lnc-maternally expressed 3 (MEG3), long intergenic ncRNA 890 (LINC00890), TSIX, long intergenic ncRNA 473 (LINC00473), lnc-KLF9-1, and lnc-POTEM-3 (lncRNA-ATB) in leiomyoma and matched myometrium (N = 8). 28587571 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
0.010 AlteredExpression group BEFREE Moreover, we show that elimination of the ACT-PLA activity abrogates ACT toxicity in macrophages, particularly at toxin concentrations close to biological reality of bacterial infection. 28760979 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 AlteredExpression disease BEFREE ACT has been shown to promote Abeta polymerization in vitro and in vivo, and levels of ACT protein in plasma and cerebrospinal fluid from Alzheimer's patients have been found to correlate with progression of dementia. 16987932 2006
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 AlteredExpression disease BEFREE Selexipag and mainly its active metabolite ACT-333679 were found for the first time to potentially interfere with the profibrotic activity of cultured SSc fibroblasts/myofibroblasts at least in vitro, possibly through the downregulation of fibrogenic Erk1/2 and Akt signaling molecules. 29720235 2018
CUI: C0497327
Disease: Dementia
Dementia
0.010 AlteredExpression disease BEFREE ACT has been shown to promote Abeta polymerization in vitro and in vivo, and levels of ACT protein in plasma and cerebrospinal fluid from Alzheimer's patients have been found to correlate with progression of dementia. 16987932 2006
Squamous cell carcinoma of the head and neck
0.010 AlteredExpression disease BEFREE In addition, when the ACT gene expression in PCI-04A cells was compared with the matched (from the same patient) metastatic HNSCC-derived cells (PCI-04B), increased steady-state level of the ACT mRNA was observed in PCI-04B cells. 9831377 1998
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE Additionally, the overexpression of α1-ACT can also increase the proportion of cells in the G0/G1 stage by increasing cyclin p21 expression and inhibiting the migration and invasion abilities of HCC cells by regulating MMP2 and MMP9. 28456796 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These data suggest that the ACT gene may affect AAO and disease duration of AD. 16137793 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE In particular, polymorphisms within the ApoE and alpha1-ACT gene have been implicated in the aetiology of AD and s-IBM. 15159602 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These results suggest that both the APOE and ACT genes may play a distinct role in the progression of AD as monitored by imaging studies of cerebral glucose utilization. 9295092 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE These data suggest that the etiological basis of PD might be partly similar to that of AD and the ACT gene might be one of the susceptibility factors for PD. 9219874 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE A total of 170 studies were included in the meta-analysis and systematic review, which demonstrated increased peripheral levels of high-sensitivity C reactive protein (Hedges's g 0.281, p<0.05), interleukin-6 (IL-6) (0.429, p<0.005), soluble tumour necrosis factor receptor 1 (sTNFR1) (0.763, p<0.05), soluble tumour necrosis factor receptor 2 (sTNFR2) (0.354, p<0.005), alpha1-antichymotrypsin (α1-ACT) (1.217, p<0.005), IL-1β (0.615, p<0.05) and soluble CD40 ligand (0.868, p<0.005), and CSF levels of IL-10 (0.434, p<0.05), monocyte chemoattractant protein-1 (MCP-1) (0.798, p<0.005), transforming growth factor-beta 1 (1.009, p<0.05), soluble triggering receptor expressed on myeloid cells2 (sTREM2) (0.587, p<0.001), YKL-40 (0.849, p<0.001), α1-ACT (0.638, p<0.001), nerve growth factor (5.475, p<0.005) and visinin-like protein-1 (VILIP-1) (0.677, p<0.005), in AD compared with the control. 30630955 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE ACT is a major component of the senile plaques (SP) characteristic of Alzheimer's disease (AD). 15530656 2004
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease BEFREE Among women who completed the ACT during the clinical interview, the 50% of women who experienced worsening asthma during pregnancy (6/12) had an ACT score below 20. 29692816 2018
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease BEFREE Over half (55.7%) had uncontrolled asthma as measured by ACT/cACT; 13.9% had a normal ACT/cACT score but were uncontrolled using the Asthma Control Questionnaire and 20.2% were controlled on both measures but had received oral steroids in the past year for asthma. 30772471 2019
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease BEFREE Validity indicators were calculated at different C-ACT cut-points to determine those most appropriate for predicting controlled and uncontrolled asthma. 29223149 2018
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease BEFREE On the contrary, gender, FEV<sub>1</sub>, FEV<sub>1</sub>/FVC ratio, FEF<sub>25-75</sub>, ACT, VAS of breathing perception, oral corticosteroid use, and asthma severity grade were associated with the asthma control grade. 31047107 2019
CUI: C0004096
Disease: Asthma
Asthma
0.100 Biomarker disease BEFREE The frequency of VDR ApaI aa genotype was significantly higher in controlled asthma group (n=92) than uncontrolled asthma group (n=35), according to C-ACT (24.5% vs 0.0%, p<0.001) and GINA (32.7% vs 7.5%, p=0.001). 25353337 2014