RARA, retinoic acid receptor alpha, 5914

N. diseases: 225; N. variants: 3
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE RARA is involved in translocation with PML in acute promyelocytic leukaemia (APL). 30996344 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Basic pathogenic differences between classical APL and PLZF-RARα-associated APL are further discussed. 31126665 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Acute promyelocytic leukemia (APL) is a distinct type of acute myeloid leukemia that is defined by the presence of the translocations that mostly involve the RARA gene. 31125631 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE With RT-PCR and karyotype, Case A is diagnosed with STAT5b-RARα-positive APL.Case B, C are diagnosed with PLZF-RARα-positive APL. 31083206 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 AlteredExpression disease BEFREE A hallmark of acute promyelocytic leukemia (APL) is the expression of PML/RARα fusion protein. 31592194 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE This is the first report of an APL case presenting with submicroscopic ins(15;17) and simultaneous novel breakpoints in both PML and RARA. 31085908 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 AlteredExpression disease BEFREE Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation between chromosomes 15 and 17, t(15;17), resulting in the expression of PML-RARα fusion protein, which disrupts the normal PML nuclear bodies (PML-NBs) to micro-speckled pattern, leading to loss of their original functions. 31669778 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE <i>TBL1XR1-RARB</i> as an oncogenic protein exerts effects similar to those of <i>PML-RARA</i>, underpinning the importance of retinoic acid pathway alterations in the pathogenesis of APL.<b>Significance:</b> These findings report a novel and distinct genetic subtype of acute promyelocytic leukemia (APL) by illustrating that the majority of APL without RARA translocations harbor RARB translocations.<i></i>. 29921692 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 AlteredExpression disease BEFREE We hypothesized that PML/RARA-mediated downregulation of <i>Irf8</i> transcript levels contributes to the initiation of APL. 30266821 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE BRD4 interacts with PML/RARα in acute promyelocytic leukemia. 30552662 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Mutation analysis of PML-RARA was performed using samples from a chemotherapy- and ATRA-resistant APL patient, and the frequencies of mutated PML-RARA transcript were analyzed by targeted deep sequencing. 30289902 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 AlteredExpression disease BEFREE Of 84 cases (63%) that lacked monocytic differentiation ("myeloid AML"), 40 (48%) demonstrated an acute promyelocytic leukemia-like (APL-like) immunophenotype by flow cytometry, with absence of CD34 and HLA-DR and strong myeloperoxidase expression, in the absence of a PML-RARA translocation. 29274134 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE PML-RARα interferes with erythropoiesis by repressing LMO2 in acute promyelocytic leukaemia. 30320491 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Furthermore, crocetin suppressed the expression of clinical marker promyelocytic leukemia/retinoic acid receptor-α ( PML/RARα) in NB4 and primary APL cells, and reduced the expression of histone deacetylase 1 ( HDAC1) in all leukemic cells. 30203596 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Human acute promyelocytic leukemia (APL) cells are characterized by the arrest of differentiation at the promyelocytic stage due to epigenetic perturbations induced by PML/RARα fusion protein (Promyelocytic Leukemia protein - PML/Retinoic Acid Receptor alpha - RARα). 29590658 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE All-trans retinoic acid and arsenic trioxide treatment has been implemented for promyelocytic leukemia to target the PML-RARα fusion protein. 28521962 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE We hypothesize a novel mechanism of EZH2 function alteration, which may be responsible for an acute myeloid leukemia with APL-like phenotype featuring dysregulation of the RARA and RARG genes. 29530751 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Identifying and targeting oncogenic fusion genes have revolutionized the treatment of leukemia, such as PML-RARα fusion gene in acute promyelocytic leukemia. 30179602 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE We present a case of an 18-year-old female who was diagnosed with AML (FLT3 (Fms like tyrosine kinase 3) and PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha) translocation-negative) and after initial treatment with a standard induction regimen of cytarabine and daunorubicin (3+7 regimen), her bone marrow showed blast cells less than 5% and dense aggregates/sheets of atypical/immature mast cells with immunohistochemical stain CD117+ve and toluidine blue positive in mast cell aggregates. 30800544 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 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
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE PML-RARα perturbs the normal epigenetic setting, which is essential to oncogenic transformation in acute promyelocytic leukemia (APL). 29159499 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE The As2O3-mediated degradation of PML-RARA (promyelocytic leukemia-retinoic acid receptor-α) oncoprotein via the proteasome pathway appears to be critical for such distinguished sensitivity. 30338810 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 GeneticVariation disease BEFREE Acute promyelocytic leukemia (APL) is characterized by the reciprocal translocation t(15;17)(q22;q21), resulting in the fusion of the promyelocytic leukemia gene at 15q22 with the retinoic acid receptor α at 17q21. 30344754 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 GeneticVariation disease BEFREE Acute promyelocytic leukemia (APL) is a rare leukemia characterized by the balanced reciprocal translocation between the promyelocytic leukemia gene on chromosome 15 and the retinoic acid receptor α (RARα) gene on chromosome 17, and accounts for 10-15% of newly diagnosed acute myeloid leukemia each year. 29541170 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.700 Biomarker disease BEFREE Subsequent OTI sequences were derived from the observed APL breakpoint between PML and RARA. 29447373 2018