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[] } ] }, { "title": "Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.", "journal": "Archives of ophthalmology (Chicago, Ill. : 1960)", "date": "2003", "authors": "Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A", "reference": { "type": "PubMed", "id": "12860809", "url": "https://pubmed.ncbi.nlm.nih.gov/12860809" }, "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.12860809", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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[] } ] }, { "title": "Myocilin gene implicated in primary congenital glaucoma.", "journal": "Clinical genetics", "date": "2005", "authors": "Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, Thomas R, Balasubramanian D, Chakrabarti S", "reference": { "type": "PubMed", "id": "15733270", "url": "https://pubmed.ncbi.nlm.nih.gov/15733270" }, "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.15733270", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Chem.", "date": "2005", "authors": "Hardy Katharine M, Hoffman Emely A, Gonzalez Pedro, McKay Brian S, Stamer W Daniel", "reference": { "type": "PubMed", "id": "15944158", "url": "https://pubmed.ncbi.nlm.nih.gov/15944158" }, "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.15944158", "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": 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"Ortego J, Escribano J, Coca-Prados M", "reference": { "type": "PubMed", "id": "9280311", "url": "https://pubmed.ncbi.nlm.nih.gov/9280311" }, "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.9280311", "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": "total", "count": 0 } ], 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[] } ] }, { "title": "Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan.", "journal": "American journal of human genetics", "date": "1997", "authors": "Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S", "reference": { "type": "PubMed", "id": "9345106", "url": "https://pubmed.ncbi.nlm.nih.gov/9345106" }, "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.9345106", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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"Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.", "journal": "Diabetes", "date": "2000", "authors": "Horikawa Y, Horikawa Y, Cox N J, Iwasaki N, Ogata M, Iwamoto Y, Schwitzgebel V, German M S, Bell G I", "reference": { "type": "PubMed", "id": "11078465", "url": "https://pubmed.ncbi.nlm.nih.gov/11078465" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9HD90-1", "protein_name": "Neurogenic differentiation factor 4", "gene_name": "NEUROD4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HD90", "url": "https://www.uniprot.org/uniprotkb/Q9HD90" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11078465", "abstract": "", 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Invest.", "date": "2014", "authors": "Payne Felicity, Colnaghi Rita, Rocha Nuno, Seth Asha, Harris Julie, Carpenter Gillian, Bottomley William E, Wheeler Eleanor, Wong Stephen, Saudek Vladimir, Savage David, O'Rahilly Stephen, Carel Jean-Claude, Barroso In\u00eas, O'Driscoll Mark, Semple Robert", "reference": { "type": "PubMed", "id": "25105364", "url": "https://pubmed.ncbi.nlm.nih.gov/25105364" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96MF7-1", "protein_name": "E3 SUMO-protein ligase NSE2", "gene_name": "NSMCE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96MF7", "url": "https://www.uniprot.org/uniprotkb/Q96MF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25105364", "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": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "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": [] }, { "table_id": "glycosylation_reported_with_glycan", "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": [] }, { "table_id": "glycosylation_predicted", "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": [] }, { "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": "RAD51AP1 Is an Essential Mediator of Alternative Lengthening of Telomeres.", "journal": "Molecular cell", "date": "2019", "authors": "Barroso-Gonzalez J, Garcia-Exposito L, Hoang SM, Lynskey ML, Roncaioli JL, Ghosh A, Wallace CT, de Vitis M, Modesti M, Bernstein KA, Sarkar SN, Watkins SC, O'Sullivan RJ", "reference": { "type": "PubMed", "id": "31400850", "url": "https://pubmed.ncbi.nlm.nih.gov/31400850" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96MF7-1", "protein_name": "E3 SUMO-protein ligase NSE2", "gene_name": "NSMCE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96B01-1", "protein_name": "RAD51-associated protein 1", "gene_name": "RAD51AP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43351-1", "protein_name": "DNA repair protein RAD52 homolog", "gene_name": "RAD52", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96MF7", "url": "https://www.uniprot.org/uniprotkb/Q96MF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 154, "end_pos": 159, "sequence_org": "LDKITV", "sequence_mut": "ADKATA", "comment": "Reduced sumoylation. 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Cell", "date": "2019", "authors": "Barroso-Gonz\u00e1lez Jonathan, Garc\u00eda-Exp\u00f3sito Laura, Hoang Song My, Lynskey Michelle L, Roncaioli Justin L, Ghosh Arundhati, Wallace Callen T, Modesti Mauro, Bernstein Kara A, Sarkar Saumendra N, Watkins Simon C, O'Sullivan Roderick J", "reference": { "type": "PubMed", "id": "31585101", "url": "https://pubmed.ncbi.nlm.nih.gov/31585101" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96MF7-1", "protein_name": "E3 SUMO-protein ligase NSE2", "gene_name": "NSMCE2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96B01-1", "protein_name": "RAD51-associated protein 1", "gene_name": "RAD51AP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43351-1", "protein_name": "DNA repair protein RAD52 homolog", "gene_name": "RAD52", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96MF7", "url": "https://www.uniprot.org/uniprotkb/Q96MF7" 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"glycosylation_predicted", "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": [] }, { "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": "NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer.", "journal": "BMC cancer", "date": "2022-10-12", "authors": "Di Benedetto Carolina, Oh Justin, Choudhery Zainab, Shi Weiquan, Valdes Gilmer, Betancur Paola", "reference": { "type": "PubMed", "id": "36224576", "url": "https://pubmed.ncbi.nlm.nih.gov/36224576" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96MF7-1", "protein_name": "E3 SUMO-protein ligase NSE2", "gene_name": "NSMCE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96MF7", "url": "https://www.uniprot.org/uniprotkb/Q96MF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36224576", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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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": "NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.", "journal": "Journal of cancer research and clinical oncology", "date": "2018", "authors": "Sasahira T, Nishiguchi Y, Kurihara-Shimomura M, Nakashima C, Kuniyasu H, Kirita T", "reference": { "type": "PubMed", "id": "29464350", "url": "https://pubmed.ncbi.nlm.nih.gov/29464350" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6NVV3-1", "protein_name": "Magnesium transporter 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