RTL1, retrotransposon Gag like 1, 388015

N. diseases: 119; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Uniparental disomy, paternal, chromosome 14
0.310 ChromosomalRearrangement disease ORPHANET Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. 18176563 2008
Uniparental disomy, paternal, chromosome 14
0.310 GeneticVariation disease BEFREE Although recent studies in patients with paternal uniparental disomy 14 [upd(14)pat] and other conditions affecting the chromosome 14q32.2 imprinted region have successfully identified underlying epigenetic factors involved in the development of upd(14)pat phenotype, several matters, including regulatory mechanism(s) for RTL1 expression, imprinting status of DIO3 and placental histological characteristics, remain to be elucidated. 22917972 2012
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation disease BEFREE The safety and immunologic response of a plasmid encoding the MART-1 melanocyte differentiation antigen was evaluated in 12 patients with resected melanoma at risk for relapse. 16000957 2005
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Replication-deficient recombinant adenovirus (Ad) encoding human gp100 or MART-1 melanoma Ag was used to transduce human dendritic cells (DC) ex vivo as a model system for cancer vaccine therapy. 10706736 2000
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Large and dissimilar repertoire of Melan-A/MART-1-specific CTL in metastatic lesions and blood of a melanoma patient. 12244204 2002
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE To establish whether or not the use of tyrosinase-specific or melanA/MART-1-specific reverse transcriptase-coupled-polymerase chain reaction (RT--PCR) of peripheral blood cells detects preclinical disease progression in patients with malignant melanoma. 11251559 2001
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE In this study, we examined whether cis-diaminedichloroplatinum (II) cisplatin (CDDP) sensitizes MART-1/HLA A2.1(+) melanoma and melanoma variant tumor cells to non-MHC-restricted, Fas ligand (FasL)-mediated killing by CTL. 11207317 2001
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE To establish a mouse model for the use of these 'self' antigens as targets for anti-tumor immune responses, we have employed the mouse homologues of the human melanoma antigens Tyrosinase, Tyrosinase Related Protein-1 (TRP-1), gp100, and MART-1. 9692858 1998
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE However, not all IHC-positive cells in SLN are metastatic melanoma, as evidenced by the presence of MART-1 positive cells in SLN from breast cancer patients with no history of melanoma (so-called 'false-positive' cells). 18697715 2008
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE A pilot clinical trial testing topical resiquimod and a xenopeptide as immune adjuvants for a melanoma vaccine targeting MART-1. 30520800 2019
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE The MART-1/Melan-A human melanoma tumor antigen can be recognized by T lymphocytes and appears to be involved in tumor regression. 9218710 1997
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE MAb A103 allows the detection of melanoma-associated Melan A/MART-1 protein expression in routine archival tissue and thus enables the profiling of melanomas suited for immunotherapy approaches involving Melan A/MART-1 derived epitopes. 9764809 1998
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Tumor infiltrating lymphocytes from a patient with melanoma were isolated, expanded in vitro in the presence of interleukin-2, and tested for cytotoxicity against HLA-A2 positive, MART-1 positive autologous tumor cells, an HLA-A2-positive, MART-1 positive melanoma cell line (Mel-501), and HLA-A2-negative melanoma cells. 10687135 2000
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma. 12819038 2003
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE A retrospective cohort study evaluated 123 melanomas excised using MMS with MART-1 immunostain. 30199430 2019
CUI: C0025202
Disease: melanoma
melanoma
0.100 AlteredExpression disease BEFREE Pathologic assessment of melanoma sentinel nodes: a role for molecular analysis using quantitative real-time reverse transcription-PCR for MART-1 and tyrosinase messenger RNA. 15746042 2005
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Additionally, 23 of 29 CD8+ clones lysed T2 cells pulsed with the MART-1(27-35) peptide and 15 of 29 lysed the HLA-A2+ melanoma line 888. 10384155 1999
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE MART-1 epitope was detected by IHC in 23/24 primary melanomas (96%), 9/9 metastatic melanomas (100%) and 5/6 nevi (83%). 18204435 2008
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE IL-12-stimulated iNKT cells strongly enhanced the MART-1 (melanoma Ag recognized by T cell 1)-specific CD8(+) CTL response, which was dependent on iNKT cell-derived IFN-gamma. 18684935 2008
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE In view of this, we performed an extensive cytogenetic analysis of hTERT-transduced MART-1 (melanoma antigen recognized by T cell 1)-and human papillomavirus type 16 (HPV16) E7-specific human CD8+ cytotoxic T lymphocytes (CTLs), reactive against melanoma and cervical carcinoma, respectively. 16002425 2005
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Shave biopsy and immunohistochemical studies revealed that the tumor was composed of malignant melanoma (MM) (highlighted by S100 and MART-1) intermixed with squamous cell carcinoma (SCC) (highlighted by cytokeratin and p63), and a diagnosis of combined MM-SCC was rendered. 31361351 2020
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Similarly, impressive clinical responses were seen in melanoma and synovial cell carcinoma with TCR-modified T cells redirected against the melanocyte lineage antigen MART-1 and the testis-cancer antigen NY-ESO-1. 23804078 2013
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE By T cell receptor clonotypic mapping and staining with tetrameric HLA-peptide complexes, we demonstrate the presence of melanocyte differentiation antigen MART-1 specific T cells in the areas of destruction of both neoplastic and normal melanocytic cells in a case of a primary melanoma and its associated hypopigmentation. 11918704 2002
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Patients with melanoma who enrolled in the F5-MART-1 clinical trial (NCT00910650) received infusions of MART-1 T-cell receptors transgenic T cells with MART-1 peptide-pulsed dendritic cell vaccination. 29470191 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Importantly, subcutaneous immunization of C57BL/6J mice with DCs ex vivo transfected with an electrostatic complex of AuNPs-SL & melanoma antigen (MART1) encoded DNA vaccine (p-CMV-MART1) induced a long lasting (100 days) anti-tumor immune response in immunized mice upon subsequent challenge with a lethal dose of melanoma. 30964937 2019