ACTRT1, actin related protein T1, 139741

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.310 Biomarker disease GENOMICS_ENGLAND Skin Cancer Associated Genodermatoses: A Literature Review. 30653245 2019
Follicular atrophoderma and basal cell epitheliomata
0.310 Biomarker disease GENOMICS_ENGLAND Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas. 28869610 2017
Follicular atrophoderma and basal cell epitheliomata
0.310 AlteredExpression disease BEFREE ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. 28869610 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.310 GeneticVariation disease BEFREE In summary, our study identifies a disease mechanism in BCC involving mutations in regulatory noncoding elements and uncovers the tumor-suppressor properties of ACTRT1. 28869610 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Approach and Results: We detected a normal AIP1 form (named AIP1A) in the healthy aorta, but a shorter form of AIP1 (named AIP1B) was found in diseased aortae that contained atherosclerotic plaques and graft arteriosclerosis. 31619063 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 Suppresses Transplant Arteriosclerosis Through Inhibition of Vascular Smooth Muscle Cell Inflammatory Response to IFNγ. 30471213 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 AlteredExpression disease BEFREE <b>Objective:</b> AIP1 expression is downregulated in human atherosclerotic plaques and global deletion of AIP1 in mice exacerbates atherosclerosis in ApoE-KO mouse models. 29731721 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1-mediated stress signaling in atherosclerosis and arteriosclerosis. 25732743 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 prevents graft arteriosclerosis by inhibiting interferon-γ-dependent smooth muscle cell proliferation and intimal expansion. 21700930 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 AlteredExpression disease BEFREE <b>Objective:</b> AIP1 expression is downregulated in human atherosclerotic plaques and global deletion of AIP1 in mice exacerbates atherosclerosis in ApoE-KO mouse models. 29731721 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE AIP1-mediated stress signaling in atherosclerosis and arteriosclerosis. 25732743 2015
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 Biomarker group BEFREE However, the direct role of AIP1 in endothelium, vascular remodeling and associated vascular diseases has not been determined. 29731721 2018
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE AIP1 could be a promising biomarker for predicting ESCC prognosis and a potential target for anti-angiogenic therapy. 30464518 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 GeneticVariation disease BEFREE By screening a peptoid library using surface plasmon resonance imaging, amyloid inhibitory peptoid 1 (AIP1) that has high affinity to Aβ42 is identified. 27714968 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 Biomarker disease BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
CUI: C0232197
Disease: Fibrillation
Fibrillation
0.010 Biomarker disease BEFREE AIP1 is demonstrated to inhibit Aβ42 oligomerization and fibrillation and to rescue Aβ42-induced cytotoxicity through decreasing the content of Aβ42 oligomers that is related to cell membrane permeability. 27714968 2017
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation phenotype BEFREE In summary, our study identifies a disease mechanism in BCC involving mutations in regulatory noncoding elements and uncovers the tumor-suppressor properties of ACTRT1. 28869610 2017
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE Mechanisms for AIP1 function and regulation associated with human cardiovascular diseases need further investigations. 25732743 2015
CUI: C0010709
Disease: Cyst
Cyst
0.010 Biomarker disease BEFREE Moreover, loss of Aip1 impaired the apico-basal polarity of intestinal epithelial cell monolayers and inhibited formation of polarized epithelial cysts in 3-D Matrigel. 25792565 2015
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation disease BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015