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"n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.", "journal": "Science (New York, N.Y.)", "date": "2011", "authors": "Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L", "reference": { "type": "PubMed", "id": "21868677", "url": "https://pubmed.ncbi.nlm.nih.gov/21868677" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9ULK4-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 23", "gene_name": "MED23", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULK4", "url": "https://www.uniprot.org/uniprotkb/Q9ULK4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21868677", "abstract": "", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype.", "journal": "Gene", "date": "2001", "authors": "Ohmiya N, Matsumoto S, Yamamoto H, Baranovskaya S, Malkhosyan SR, Perucho M", "reference": { "type": "PubMed", "id": "11470537", "url": "https://pubmed.ncbi.nlm.nih.gov/11470537" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11470537", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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[] } ] }, { "title": "Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?", "journal": "Human genetics", "date": "2003", "authors": "Kariola R, Otway R, Lonnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nystrom-Lahti M", "reference": { "type": "PubMed", "id": "12522549", "url": "https://pubmed.ncbi.nlm.nih.gov/12522549" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12522549", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R", "reference": { "type": "PubMed", "id": "12658575", "url": "https://pubmed.ncbi.nlm.nih.gov/12658575" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43246-1", "protein_name": "DNA mismatch repair protein Msh2", "gene_name": "MSH2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P40692-1", "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", 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in patients with urinary bladder neoplasms.", "journal": "Acta oncologica (Stockholm, Sweden)", "date": "2007", "authors": "Sanyal S, De Verdier PJ, Steineck G, Larsson P, Onelov E, Hemminki K, Kumar R", "reference": { "type": "PubMed", "id": "17438703", "url": "https://pubmed.ncbi.nlm.nih.gov/17438703" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17438703", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 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Mutat.", "date": "2007", "authors": "Auclair J, Leroux D, Desseigne F, Lasset C, Saurin JC, Joly MO, Pinson S, Xu XL, Montmain G, Ruano E, Navarro C, Puisieux A, Wang Q", "reference": { "type": "PubMed", "id": "17557300", "url": "https://pubmed.ncbi.nlm.nih.gov/17557300" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54278-1", "protein_name": "Mismatch repair endonuclease PMS2", "gene_name": "PMS2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17557300", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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"hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1996", "authors": "Acharya S, Wilson T, Gradia S, Kane M F, Guerrette S, Marsischky G T, Kolodner R, Fishel R", "reference": { "type": "PubMed", "id": "8942985", "url": "https://pubmed.ncbi.nlm.nih.gov/8942985" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20585-1", "protein_name": "DNA mismatch repair protein Msh3", "gene_name": "MSH3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P43246-1", "protein_name": "DNA mismatch repair protein Msh2", "gene_name": "MSH2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8942985", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "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": "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.", "journal": "Nat. Genet.", "date": "1997", "authors": "Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T", "reference": { "type": "PubMed", "id": "9354786", "url": "https://pubmed.ncbi.nlm.nih.gov/9354786" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P52701-1", "protein_name": "DNA mismatch repair protein Msh6", "gene_name": "MSH6", "tax_name": "Human" }, { "uniprot_canonical_ac": "P37173-1", "protein_name": "TGF-beta receptor type-2", "gene_name": "TGFBR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P01137-1", "protein_name": "Transforming growth factor beta-1 proprotein", "gene_name": "TGFB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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"evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 1140, "end_pos": 1140, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on mismatch binding, complete loss of DNA repair function when associated with MSH2 mutant R-675.", "evidence": [ { "database": "UniProtKB", "id": "P52701", "url": "https://www.uniprot.org/uniprotkb/P52701" }, { "database": "PubMed", "id": "9564049", "url": "https://pubmed.ncbi.nlm.nih.gov/9564049" } ], "uniprot_canonical_ac": "P52701-1" }, { "start_pos": 675, "end_pos": 675, "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140.", "evidence": [ { "database": "UniProtKB", "id": "P43246", "url": "https://www.uniprot.org/uniprotkb/P43246" }, { "database": 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Neurosci.", "date": "2003", "authors": "Lin JC, Ho WH, Gurney A, Rosenthal A", "reference": { "type": "PubMed", "id": "14595443", "url": "https://pubmed.ncbi.nlm.nih.gov/14595443" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y2I2-3", "protein_name": "Netrin-G1", "gene_name": "NTNG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8C031-1", "protein_name": "Leucine-rich repeat-containing protein 4C", "gene_name": "Lrrc4c", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q9HCJ2-1", "protein_name": "Leucine-rich repeat-containing protein 4C", "gene_name": "LRRC4C", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2I2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2I2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14595443", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Invest.", "date": "1991", "authors": "Hailat N, Keim DR, Melhem RF, Zhu XX, Eckerskorn C, Brodeur GM, Reynolds CP, Seeger RC, Lottspeich F, Strahler JR, et al.", "reference": { "type": "PubMed", "id": "2056128", "url": "https://pubmed.ncbi.nlm.nih.gov/2056128" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P15531-1", "protein_name": "Nucleoside diphosphate kinase A", "gene_name": "NME1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P15531", "url": "https://www.uniprot.org/uniprotkb/P15531" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2056128", "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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