Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE The fusion oncogene, promyelocytic leukemia (PML)-retinoic acid receptor-α (RARα), is crucial for acute promyelocytic leukemia (APL) pathogenesis. 31654721 2020
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE The promyelocytic leukemia (PML)-retinoic acid receptor α (RARA) fusion is hypothesized to serve a vital role in the pathogenesis of acute promyelocytic leukemia (APL), which results from a reciprocal translocation between chromosomes 15 and 17, t(15;17)(q24;q21). 30680014 2019
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE Acute promyelocytic leukemia (APL) is commonly characterized by the fusion of retinoic acid receptor alpha (RARA) with promyelocytic leukemia (PML). 31447564 2019
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE The hallmark reciprocal chromosomal translocation t(15;17) involving fusion between the retinoic acid receptor (RARα) gene and promyelocytic leukemia (PML) gene is a characteristic feature in APL which consequently results in the emergence of PML-RARα chimeric gene. 29700805 2019
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE To understand the relationship between PML/RARα and the oncogene in the development of APL, we investigate the regulation mechanism of PML/RARα to MYB proto-oncogene and the role of this regulation on the proliferation and differentiation of APL cells. 30335887 2018
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE This interaction was disrupted by the PML-RARA t(15;17) mutation, which stems from chromosomal translocation between DNA encoding the C-terminal domain of PML and the retinoic acid receptor alpha (RARA) gene. 29735542 2018
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE Acute promyelocytic leukemia (APL) is characterized by the presence of the promyelocytic leukemia (PML)-retinoic acid receptor-α (RAR-α) fusion protein. 29344139 2017
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE Expression of the leukemia protein PML/RARα in hematopoietic progenitors displaces PML from telomeres and induces telomere shortening in the bone marrow of pre-leukemic mice. 26119943 2016
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE Results of fluorescence in situ hybridization, conventional cytogenetics, reverse transcription-polymerase chain reaction (RT-PCR), and oligonucleotide microarray for PML-RARA and common APL variant translocations were negative. 25583766 2015
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE The aim of this project was to validate earlier time frames for the Abbott Molecular Vysis LSI promyelocytic leukemia (PML)/ retinoic acid receptor alpha (RARA) fluorescence in situ hybridization (FISH) probe (ASR 6-16 h). 25639817 2015
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE Eight patients were found to harbor both PML and RARA mutations over the course of the disease. 26294332 2015
Leukoencephalopathy, Progressive Multifocal
0.100 AlteredExpression disease BEFREE The tumor suppressor promyelocytic leukemia (PML) was first identified as a component of PML-RARα fusion protein, one of the initiating cytogenetic abnormalities in acute promyelocytic leukemia. 24488785 2014
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE ATO enhances the conjugation of small ubiquitin-like modifiers to PML-RARα, followed by ubiquitination and degradation, relieving the genes associated with granulocytic differentiation from suppressive restraint by the oncoprotein. 25319615 2014
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE Inorganic arsenite (iAs(3+)) is a two-edged sword. iAs(3+) is a well-known human carcinogen; nevertheless, it has been used as a therapeutic drug for acute promyelocytic leukemia (APL), which is caused by a fusion protein comprising retinoic acid receptor-α and promyelocytic leukemia (PML). 24135626 2013
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE Acute promyelocytic leukemia (APL) is predominantly characterized by chromosomal translocations between the retinoic acid receptor, alpha (RARA) gene and the promyelocytic leukemia (PML) or promyelocytic leukemia zinc finger (PLZF) gene. 23208507 2013
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE Our study showed that GINS2 interacted with PML-C (a structural domain of PML, which is a cutting product of PML-RARα) as demonstrated by yeast two-hybrid assay and co-immunoprecipitation, and PML (NLS-) also interacted with GINS2 by co-immunoprecipitation. 23589040 2013
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE These data emphasize the benefit of using complementary molecular methods including tCGH for detecting cryptic and variant PML-RARA translocations in unusual cases of APL. 23370423 2013
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE PML/RARα and PLZF/RARα were analyzed for the ability to form high-molecular-weight complexes, the protein stability and the potential to induce a leukemic phenotype in the presence of the interfering peptides. 23152790 2012
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE A dual color dual fusion PML-RARA FISH probe set identified a small, extra PML signal in a chromosome other than 15 or 17. 22982005 2012
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE The introduction of drugs such as all-trans retinoic acid (ATRA) that promote progenitor differentiation by directly inhibiting the PML-RARα fusion protein has changed the treatment paradigm for APL and markedly improved patient survival. 21790894 2011
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE Translocation breakpoints are located within the promyelocytic leukemia (PML) locus on chromosome 15 and the retinoic acid receptor alpha (RARA) locus on chromosome 17. 21115433 2010
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE We found that both all-trans retinoic acid and arsenic trioxide induce autophagy via the mammalian target of rapamycin pathway in APL cells and that autophagic degradation contributes significantly both to the basal turnover as well as the therapy-induced proteolysis of PML/RARA. 20574048 2010
Leukoencephalopathy, Progressive Multifocal
0.100 GeneticVariation disease BEFREE Molecularly, the disease is characterized by a fusion protein, promyelocytic leukemia (PML)-retinoic acid receptor (RAR)-alpha that results from a balanced reciprocal translocation between the PML gene on chromosome 15 and the RAR-alpha (RARA) gene on chromosome 17. 19840521 2009
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE The use of all-trans-retinoic acid (ATRA) and arsenic trioxide, both of which induce degradation of the progressive multifocal leukoencephalopathy/retinoic acid receptor alpha oncoprotein, in combination with chemotherapy is currently the accepted treatment of APL, presenting a potential paradigm for differentiation therapy in clinical oncology. 19468269 2009
Leukoencephalopathy, Progressive Multifocal
0.100 Biomarker disease BEFREE We report three of 40 diagnosed APL cases that showed morphological, cytochemical, and immunophenotypic features of hypergranular APL, but did not show a PML/RARalpha fusion signal or any of its variants, on FISH. 19224461 2009