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 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
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
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: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group 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: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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 A retrospective cohort study evaluated 123 melanomas excised using MMS with MART-1 immunostain. 30199430 2019
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
CUI: C0025202
Disease: melanoma
melanoma
0.100 AlteredExpression disease BEFREE The CD44 expression correlated to PD-L1, but not to MART-1 expression in malignant melanoma. 31741714 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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 We demonstrate using human melanoma cell lines that this resistance phenotype can be induced <i>in vitro</i> by treatment with MART1 T cell receptor-expressing T cells or with TNFα, and that the phenotype is reversible with withdrawal of inflammatory stimuli. 29899062 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE One paraffin-embedded section of the patients' primary melanoma (n = 60), relapse (n = 21), and naevus (n = 17) were immunohistochemically double-stained for Ki-67/MART1 and single-stained for CD271, CD166, and CD20. 29678478 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE These results show that SOX10 is more specific than MART-1 in distinguishing epidermal melanocytes on sun-damaged skin by avoiding overdiagnosis of melanoma. 29377259 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE Elimination of melanoma by sortase A-generated TCR-like antibody-drug conjugates (TL-ADCs) targeting intracellular melanoma antigen MART-1. 29933102 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE After an initial period of tumor regression, the patient presented in relapse with tumors lacking melanocytic antigens (MART1, gp100) and expressing an inflammation-induced neural crest marker (NGFR). 29899062 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The data demonstrate that tumor number in lnc-HUR1 transgenic mice is higher compared with control mice, indicating that lnc-HUR1 enhances diethylnitrosamine-induced tumorigenesis. 29790592 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE This work evaluated the impact of surface modifications of mannosamine-conjugated multifunctional poly(glutamic acid) (PG)-dendrimers as nanocarriers of the tumour associated antigens (TAA) MART-1, gp100:44 and gp100:209. 28795601 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE In 2013, an axillary mass was excised to show metastatic melanoma with 2 morphologies: an epithelioid morphology expressing S100 and MART-1 and a spindled morphology with loss of melanocytic markers but strong expression of desmin. 29405341 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE This supports the hypothesis that acquired resistance to cancer immunotherapy can be mediated by inflammation-induced cancer dedifferentiation.<b>Significance:</b> We report a patient whose metastatic melanoma underwent inflammation-induced dedifferentiation as a resistance mechanism to ACT to the MART1 antigen. 29899062 2018
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE In this paper, we propose a technique for measuring melanoma DoI in microscopic images digitized from MART1 (i.e., meleanoma-associated antigen recognized by T cells) stained skin histopathological sections.The technique consists of four modules. 28346884 2017
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE RTL1 promotes melanoma proliferation by regulating Wnt/β-catenin signalling. 29285312 2017
CUI: C0025202
Disease: melanoma
melanoma
0.100 Biomarker disease BEFREE MART1, a human melanoma-specific tumor antigen, was used to induce an increased immune reaction, since a MART1-protective response is required to overcome immune tolerance to the melanoma antigen MelanA. 28178658 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Because of the small round blue cell morphology and negative immunohistochemical staining for pan-melanocytic cocktail (HMB45, anti MART1 and anti-tyrosinase) and SOX10 in both cases, FLI-1 immunostaining was requested as part of the tumors workup. 28605142 2017
CUI: C0025202
Disease: melanoma
melanoma
0.100 AlteredExpression disease BEFREE NFATc2(+/Hi) melanoma cell lines were CD271(+) and deficient for expression of melanocyte differentiation antigens (MDAs) MART-1, gp100, tyrosinase and of GPNMB, PGC1-α and Rab27a, all regulated by MITF. 26387540 2016