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"2023-05-05", "authors": "Kim Mi Seong, Yang Sei Hoon, Kim Min Seuk", "reference": { "type": "PubMed", "id": "37167718", "url": "https://pubmed.ncbi.nlm.nih.gov/37167718" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BZC7-1", "protein_name": "ATP-binding cassette sub-family A member 2", "gene_name": "ABCA2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BZC7", "url": "https://www.uniprot.org/uniprotkb/Q9BZC7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37167718", "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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[] } ] }, { "title": "Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.", "journal": "Nature genetics", "date": "2014", "authors": "Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X, Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT", "reference": { "type": "PubMed", "id": "24686846", "url": "https://pubmed.ncbi.nlm.nih.gov/24686846" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NUX5-1", "protein_name": "Protection of telomeres protein 1", "gene_name": "POT1", 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"2016-04-01", "authors": "Takai Hiroyuki, Jenkinson Emma, Kabir Shaheen, Babul-Hirji Riyana, Najm-Tehrani Nasrin, Chitayat David A, Crow Yanick J, de Lange Titia", "reference": { "type": "PubMed", "id": "27013236", "url": "https://pubmed.ncbi.nlm.nih.gov/27013236" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NUX5-1", "protein_name": "Protection of telomeres protein 1", "gene_name": "POT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUX5", "url": "https://www.uniprot.org/uniprotkb/Q9NUX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27013236", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Newton-Bishop Julia A, Lopez-Otin Carlos, Bishop D Timothy, Harms Paul W, Johnson Timothy M, Durham Alison B, Lombard David B, Adams David J", "reference": { "type": "PubMed", "id": "30586141", "url": "https://pubmed.ncbi.nlm.nih.gov/30586141" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NUX5-1", "protein_name": "Protection of telomeres protein 1", "gene_name": "POT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUX5", "url": "https://www.uniprot.org/uniprotkb/Q9NUX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30586141", "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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"authors": "Cai Sarah W, Takai Hiroyuki, Zaug Arthur J, Dilgen Teague C, Cech Thomas R, Walz Thomas, de Lange Titia", "reference": { "type": "PubMed", "id": "38838667", "url": "https://pubmed.ncbi.nlm.nih.gov/38838667" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NUX5-1", "protein_name": "Protection of telomeres protein 1", "gene_name": "POT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUX5", "url": "https://www.uniprot.org/uniprotkb/Q9NUX5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38838667", "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 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.", "journal": "American journal of human genetics", "date": "2012", "authors": "Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nurnberg G, Nurnberg P, Dad S, Moller LB, Kaler SG, Gartner J", "reference": { "type": "PubMed", "id": "22243965", "url": "https://pubmed.ncbi.nlm.nih.gov/22243965" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00400-1", "protein_name": "Acetyl-coenzyme A transporter 1", "gene_name": "SLC33A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": 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SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.", "journal": "Human mutation", "date": "2015", "authors": "Mao F, Li Z, Zhao B, Lin P, Liu P, Zhai M, Liu Q, Shao C, Sun W, Gong Y", "reference": { "type": "PubMed", "id": "25402622", "url": "https://pubmed.ncbi.nlm.nih.gov/25402622" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00400-1", "protein_name": "Acetyl-coenzyme A transporter 1", "gene_name": "SLC33A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00400", "url": "https://www.uniprot.org/uniprotkb/O00400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25402622", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 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[] } ] }, { "title": "Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility.", "journal": "European journal of human genetics : EJHG", "date": "2021", "authors": "Arafat M, Kleiman SE, AbuMadighem A, Zeadna A, Levitas E, Vardi IH, Barda S, Lehavi O, Hauser R, Lunenfeld E, Huleihel M, Gershoni M, Parvari R", "reference": { "type": "PubMed", "id": "34413498", "url": "https://pubmed.ncbi.nlm.nih.gov/34413498" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96QF7-1", "protein_name": "Germ cell nuclear acidic protein", "gene_name": "GCNA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96QF7", "url": "https://www.uniprot.org/uniprotkb/Q96QF7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34413498", "abstract": "", "glycosylation": [], 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Liebisch G, Schmitz G, Griese M", "reference": { "type": "PubMed", "id": "25817392", "url": "https://pubmed.ncbi.nlm.nih.gov/25817392" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99758-1", "protein_name": "Phospholipid-transporting ATPase ABCA3", "gene_name": "ABCA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99758", "url": "https://www.uniprot.org/uniprotkb/Q99758" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25817392", "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", 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transporter as a transporter of NB-506 and J-107088, topoisomerase I inhibitors with an indolocarbazole structure.", "journal": "Cancer research", "date": "2001-04-01", "authors": "Komatani H, Kotani H, Hara Y, Nakagawa R, Matsumoto M, Arakawa H, Nishimura S", "reference": { "type": "PubMed", "id": "11306452", "url": "https://pubmed.ncbi.nlm.nih.gov/11306452" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UNQ0-1", "protein_name": "Broad substrate specificity ATP-binding cassette transporter ABCG2", "gene_name": "ABCG2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UNQ0", "url": "https://www.uniprot.org/uniprotkb/Q9UNQ0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11306452", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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