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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX", "reference": { "type": "PubMed", "id": "16513084", "url": "https://pubmed.ncbi.nlm.nih.gov/16513084" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75648-1", "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "TRMU", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprotkb/O75648" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16513084", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX", "reference": { "type": "PubMed", "id": "28049726", "url": 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Scaglia Fernando, Schiff Manuel, Shagrani Mohmmad, Sharrard Mark, Soler-Alfonso Claudia, Staufner Christian, Storey Imogen, Stormon Michael, Taylor Robert W, Thorburn David R, Teles Elisa Leao, Wang Jian-She, Weghuber Daniel, Wortmann Saskia", "reference": { "type": "PubMed", "id": "36305855", "url": "https://pubmed.ncbi.nlm.nih.gov/36305855" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75648-1", "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "TRMU", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprotkb/O75648" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36305855", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Uchiyama M, Katoh M, Sekimoto M, Watanabe T, Ozeki Y, Ikeda M, Jodoi T, Sugishita M, Iwase T, Kamei Y, Kim K, Shibui K, Kudo Y, Yamada N, Toyoshima R, Okawa M, Takahashi K, Yamauchi T", "reference": { "type": "PubMed", "id": "10471411", "url": "https://pubmed.ncbi.nlm.nih.gov/10471411" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P48039-1", "protein_name": "Melatonin receptor type 1A", "gene_name": "MTNR1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P48039", "url": "https://www.uniprot.org/uniprotkb/P48039" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10471411", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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[] } ] }, { "title": "Human mucin gene MUC5AC: organization of its 5'-region and central repetitive region.", "journal": "Biochem. J.", "date": "2001", "authors": "Escande F, Aubert J P, Porchet N, Buisine M P", "reference": { "type": "PubMed", "id": "11535137", "url": "https://pubmed.ncbi.nlm.nih.gov/11535137" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P98088-1", "protein_name": "Mucin-5AC", "gene_name": "MUC5AC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P98088", "url": "https://www.uniprot.org/uniprotkb/P98088" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11535137", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ 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Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Bera TK, Iavarone C, Kumar V, Lee S, Lee B, Pastan I", "reference": { "type": "PubMed", "id": "12011458", "url": "https://pubmed.ncbi.nlm.nih.gov/12011458" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96J65-1", "protein_name": "ATP-binding cassette sub-family C member 12", "gene_name": "ABCC12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96J65", "url": "https://www.uniprot.org/uniprotkb/Q96J65" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12011458", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.", "journal": "Nature genetics", "date": "2011", "authors": "Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD", 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"authors": "Lam DS, Leung YF, Chua JK, Baum L, Fan DS, Choy KW, Pang CP", "reference": { "type": "PubMed", "id": "10798654", "url": "https://pubmed.ncbi.nlm.nih.gov/10798654" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99972-1", "protein_name": "Myocilin", "gene_name": "MYOC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99972", "url": "https://www.uniprot.org/uniprotkb/Q99972" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10798654", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Novel mutation in the MYOC gene in primary open glaucoma patients.", "journal": "Journal of medical genetics", "date": "2000", "authors": "Vasconcellos JP, Melo MB, Costa VP, Tsukumo DM, Basseres DS, Bordin S, Saad ST, Costa FF", "reference": { "type": "PubMed", "id": "10819638", "url": "https://pubmed.ncbi.nlm.nih.gov/10819638" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99972-1", "protein_name": "Myocilin", "gene_name": "MYOC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", 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juvenile onset primary open angle glaucoma.", "journal": "The British journal of ophthalmology", "date": "2000", "authors": "Booth AP, Anwar R, Chen H, Churchill AJ, Jay J, Polansky J, Nguyen T, Markham AF", "reference": { "type": "PubMed", "id": "10873982", "url": "https://pubmed.ncbi.nlm.nih.gov/10873982" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99972-1", "protein_name": "Myocilin", "gene_name": "MYOC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99972", "url": "https://www.uniprot.org/uniprotkb/Q99972" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10873982", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": 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