[ { "title": "cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Bennett EP, Hassan H, Clausen H", "reference": { "type": "PubMed", "id": "8663203", "url": "https://pubmed.ncbi.nlm.nih.gov/8663203" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14435-1", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 3", "gene_name": "GALNT3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q10472-1", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 1", "gene_name": "GALNT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q10471-1", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 2", "gene_name": "GALNT2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14435", "url": "https://www.uniprot.org/uniprotkb/Q14435" } ], "common_name": "Human", "glygen_name": "Human", 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"journal": "Glycobiology", "date": "1998-06", "authors": "Bennett E P, Weghuis D O, Merkx G, van Kessel A G, Eiberg H, Clausen H", "reference": { "type": "PubMed", "id": "9592121", "url": "https://pubmed.ncbi.nlm.nih.gov/9592121" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q14435-1", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 3", "gene_name": "GALNT3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q14435", "url": "https://www.uniprot.org/uniprotkb/Q14435" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9592121", "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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Gen. Virol.", "date": "2003", "authors": "Rahaus Markus, Desloges Nathalie, Yang Min, Ruyechan William T, Wolff Manfred H", "reference": { "type": "PubMed", "id": "14573800", "url": "https://pubmed.ncbi.nlm.nih.gov/14573800" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22415-1", "protein_name": "Upstream stimulatory factor 1", "gene_name": "USF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22415", "url": "https://www.uniprot.org/uniprotkb/P22415" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14573800", "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": "Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).", "journal": "Nat. Genet.", "date": "2004", "authors": "Pajukanta P\u00e4ivi, Lilja Heidi E, Sinsheimer Janet S, Cantor Rita M, Lusis Aldons J, Gentile Massimiliano, Duan Xiaoqun Joyce, Soro-Paavonen Aino, Naukkarinen Jussi, Saarela Janna, Laakso Markku, Ehnholm Christian, Taskinen Marja-Riitta, Peltonen Leena", "reference": { "type": "PubMed", "id": "14991056", "url": "https://pubmed.ncbi.nlm.nih.gov/14991056" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P22415-1", "protein_name": "Upstream stimulatory factor 1", "gene_name": "USF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P22415", "url": "https://www.uniprot.org/uniprotkb/P22415" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14991056", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": 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U.S.A.", "date": "1997", "authors": "Zhou B, Gitschier J", "reference": { "type": "PubMed", "id": "9207117", "url": "https://pubmed.ncbi.nlm.nih.gov/9207117" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15432-1", "protein_name": "Protein SLC31A2", "gene_name": "SLC31A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15431-1", "protein_name": "High affinity copper uptake protein 1", "gene_name": "SLC31A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IVJ1-1", "protein_name": "Solute carrier family 41 member 1", "gene_name": "SLC41A1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00450-1", "protein_name": "Ceruloplasmin", "gene_name": "CP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96JW4-1", "protein_name": "Solute carrier family 41 member 2", "gene_name": "SLC41A2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6XR72-4", "protein_name": "Calcium/manganese antiporter SLC30A10", "gene_name": "SLC30A10", "tax_name": 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Online.", "journal": "Human mutation", "date": "1999", "authors": "Karadimas C, Panas M, Chronopoulou P, Avramopoulos D, Vassilopoulos D", "reference": { "type": "PubMed", "id": "10220155", "url": "https://pubmed.ncbi.nlm.nih.gov/10220155" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprotkb/P08034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10220155", "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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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.", "journal": "Human mutation", "date": "2000", "authors": "Yoshihara T, Yamamoto M, Doyu M, Mis KI, Hattori N, Hasegawa Y, Mokuno K, Mitsuma T, Sobue G", "reference": { "type": "PubMed", "id": "10923043", "url": "https://pubmed.ncbi.nlm.nih.gov/10923043" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P25189-1", "protein_name": "Myelin protein P0", "gene_name": "MPZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprotkb/P08034" } ], "common_name": "Human", 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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": [] }, { "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": "A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.", "journal": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology", "date": "2000", "authors": "Di Iorio G, Cappa V, Ciccodicola A, Sampaolo S, Ammendola A, Sanges G, Giugliano R, D'Urso M", "reference": { "type": "PubMed", "id": "10938190", "url": "https://pubmed.ncbi.nlm.nih.gov/10938190" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprotkb/P08034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10938190", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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causing Charcot-Marie-Tooth disease.", "journal": "Human mutation", "date": "2001", "authors": "Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A", "reference": { "type": "PubMed", "id": "11180613", "url": "https://pubmed.ncbi.nlm.nih.gov/11180613" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprotkb/P08034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11180613", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Neurological Society and of the Italian Society of Clinical Neurophysiology", "date": "2002", "authors": "Ma W, Farrukh Nizam M, Grewal RP", "reference": { "type": "PubMed", "id": "12536289", "url": "https://pubmed.ncbi.nlm.nih.gov/12536289" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08034", "url": "https://www.uniprot.org/uniprotkb/P08034" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12536289", "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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consanguineous population.", "journal": "Clinical genetics", "date": "2017", "authors": "Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H", "reference": { "type": "PubMed", "id": "27234031", "url": "https://pubmed.ncbi.nlm.nih.gov/27234031" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24043-1", "protein_name": "Laminin subunit alpha-2", "gene_name": "LAMA2", "tax_name": "Human" }, { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02545-1", "protein_name": "Prelamin-A/C", "gene_name": "LMNA", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15149-1", "protein_name": "Plectin", 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