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 Biomarker disease BEFREE Both androgen and RNA-binding protein PSF play a role in the pathology of AD. 31541592 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Anterior pharynx-defective 1A (APH-1A) is a seven transmembrane component of γ-secretase (GS), an aspartyl protease enzyme involved in the production of toxic amyloid-β peptides in Alzheimer's disease patients. 30979338 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE The expression of APH-1α/1β and PS1 ultimately determined the production and deposition of β-amyloid protein (Aβ), an effect that potentially contributes to the pathogenesis of AD. 30383537 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE γ-Secretase complex, the assembly of nicastrin (NCT), Presenilin (PS), Presenilin Enhancer-2 (PEN-2) and Anterior pharynx defective 1 (Aph-1), catalyzes the cleavage of amyloid precursor protein to generate amyloid-β protein (Aβ), the main culprit of Alzheimer's disease. 29787759 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE To observe the effects of Huannao Yicong Formula (, HYF) on learning and memory and it's regulating effect on γ-secretase related anterior pharynx defective 1 (APH-1), presenilin enhancer-2 (PEN-2) signaling pathway, so as to discuss and further clarify the mechanism of HYF on Alzheimer's disease. 28120208 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Finally, the induction of APH-1α/1β was confirmed in the brains of patients with AD. 27240539 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE In neurons, ERK1/2 and PPARγ signaling pathways were activated by MgT treatment, which in turn suppressed (by >80%) the expression of APH-1α/-1β, which is responsible for the deposition of Aβ and potentially contributes to the memory deficit that occurs in AD. 26293690 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Two GPCRs implicated previously in Alzheimer's disease (GPR3 and the β(2)-adrenergic receptor) mediate their effects on Aβ generation through interaction with β-arrestin 2. β-arrestin 2 physically associates with the Aph-1a subunit of the γ-secretase complex and redistributes the complex toward detergent-resistant membranes, increasing the catalytic activity of the complex. 23202293 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE We validated the presence of APH-1A promoter polymorphism -980C/G in other two Chinese cohort sets (450 AD and 450 controls). 21443683 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The senile plaques found in the brains of patients with Alzheimer's disease are mainly due to the accumulation of amyloid beta-peptides (A beta) that are liberated by gamma-secretase, a high molecular weight complex including presenilins, PEN-2, APH-1 and nicastrin. 19889971 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Our data suggest that polymorphisms in APH-1a/b coding regions are not linked with higher risk for sporadic AD in our Italian population sample. 12972157 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE The OS and PSF were significantly enhanced in patients with lower expression of CD105 in both tumor tissue and PB compared to those with higher expression of CD105 in both tumor tissue and PB (12.4 vs 8.5, P < 0.001, 8.5 vs 6.5, P < 0.001). 29799303 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE CTBP1-AS also exhibits global androgen-dependent functions by inhibiting tumour-suppressor genes via the PSF-dependent mechanism thus promoting cell cycle progression. 23644382 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE The morphologic and immunohistochemical discrepancies between this intriguing melanotic tumor and other documented renal cell carcinomas bearing identical PSF-TFE3 gene fusion may suggest melanotic Xp11 translocation renal cancer is a distinct entity among the MiT/TFE family neoplasms. 19809274 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE Expression of VL30-1 RNA is 5- to 8-fold higher in mouse tumor lines than in mouse fibroblast or myoblast lines, whereas expression of PSF mRNA does not decrease in the tumor lines, suggesting that tumorigenesis is driven by an increase of VL30-1 RNA rather than a decrease of PSF. 19805375 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE While PSF can function as a DNA-binding protein with a tumor suppressive function, its association with Hakai promotes PSF's RNA-binding ability and post-transcriptional influence on target mRNAs. 19855157 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Pazopanib was well tolerated and clinically active, surpassing predefined metrics proposed by the European Organization for Research and Treatment of Cancer indicative of "active" sarcoma drugs (5.63 months progression-free survival [PSF], with 62% of the study population achieving progression-free survival at 12 weeks). 29212731 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Pazopanib was well tolerated and clinically active, surpassing predefined metrics proposed by the European Organization for Research and Treatment of Cancer indicative of "active" sarcoma drugs (5.63 months progression-free survival [PSF], with 62% of the study population achieving progression-free survival at 12 weeks). 29212731 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 GeneticVariation disease BEFREE Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor. 28315422 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.040 Biomarker disease BEFREE Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma. 21504709 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 AlteredExpression group BEFREE We conclude that human hPSF-binding RNAs drive transformation and tumorigenesis by reversing PSF-mediated repression of proto-oncogene transcription and that dysfunctional regulation of human hPSF-binding RNA expression has a central role in the etiology of human cancer. 19625619 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Thus, Hakai can affect the oncogenic phenotype both by altering E-cadherin-based intercellular adhesions and by increasing PSF's ability to bind RNAs that promote cancer-related gene expression. 19855157 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 AlteredExpression group BEFREE We propose that PSF protein and PSF-binding RNAs have a central role in the reversible regulation of mammalian cell proliferation and tumorigenesis and that increasing PSF expression or decreasing PSF-binding RNA expression in tumor cells is a potential therapeutic strategy for cancer. 19805375 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 AlteredExpression phenotype BEFREE We propose that PSF protein and PSF-binding RNAs have a central role in the reversible regulation of mammalian cell proliferation and tumorigenesis and that increasing PSF expression or decreasing PSF-binding RNA expression in tumor cells is a potential therapeutic strategy for cancer. 19805375 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Hacking RNA: Hakai promotes tumorigenesis by enhancing the RNA-binding function of PSF. 19855157 2009