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Chem.", "date": "1998", "authors": "Yasuda T, Takeshita H, Iida R, Nakajima T, Hosomi O, Nakashima Y, Kishi K", "reference": { "type": "PubMed", "id": "9446563", "url": "https://pubmed.ncbi.nlm.nih.gov/9446563" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O00115-1", "protein_name": "Deoxyribonuclease-2-alpha", "gene_name": "DNASE2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00115", "url": "https://www.uniprot.org/uniprotkb/O00115" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9446563", "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": "Cloning of cDNAs encoding porcine and human DNase II.", "journal": "Biochem. 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Genet.", "date": "1999", "authors": "Heiss N S, Girod A, Salowsky R, Wiemann S, Pepperkok R, Poustka A", "reference": { "type": "PubMed", "id": "10556300", "url": "https://pubmed.ncbi.nlm.nih.gov/10556300" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60832-1", "protein_name": "H/ACA ribonucleoprotein complex subunit DKC1", "gene_name": "DKC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60832", "url": "https://www.uniprot.org/uniprotkb/O60832" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10556300", "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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"o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.", "journal": "Gene", "date": "2014", "authors": "Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ", "reference": { "type": "PubMed", "id": "24914498", "url": "https://pubmed.ncbi.nlm.nih.gov/24914498" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60832-1", "protein_name": "H/ACA ribonucleoprotein complex subunit DKC1", "gene_name": "DKC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60832", "url": "https://www.uniprot.org/uniprotkb/O60832" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24914498", "abstract": 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Jiang R, Hou P, Shan H, Chen F, Jiang T, Bai J, Zheng J", "reference": { "type": "PubMed", "id": "29901172", "url": "https://pubmed.ncbi.nlm.nih.gov/29901172" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O60832-1", "protein_name": "H/ACA ribonucleoprotein complex subunit DKC1", "gene_name": "DKC1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60832", "url": "https://www.uniprot.org/uniprotkb/O60832" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "biomarkers": [ { "best_biomarker_role": [ "prognostic" ], "biomarker_canonical_id": "AN6693", "assessed_biomarker_entity": [ "H/ACA ribonucleoprotein complex subunit DKC1" ], "biomarker_id": "AN6693-1", "biomarker": [ "increased DKC1 level" ], "condition": { "id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": 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Cell Genet.", "date": "2000", "authors": "Roessler E, Du Y, Glinka A, Dutra A, Niehrs C, Muenke M", "reference": { "type": "PubMed", "id": "10965128", "url": "https://pubmed.ncbi.nlm.nih.gov/10965128" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94907-1", "protein_name": "Dickkopf-related protein 1", "gene_name": "DKK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94907", "url": "https://www.uniprot.org/uniprotkb/O94907" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10965128", "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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"prostate cancer, hereditary, X-linked 1", "HPCX1", "prostate cancer, hereditary, X-linked 2", "HPCX2", "prostate cancer, hereditary, 1", "RNASEL familial prostate cancer", "familial prostate cancer caused by mutation in RNASEL", "prostate cancer 1", "prostate cancer, hereditary, type 1", "HPC1", "prostate cancer, hereditary, 8", "prostate cancer, hereditary, type 8", "HPC8", "prostate cancer, hereditary, 3", "prostate cancer, hereditary, type 3", "prostate cancer, susceptibility to, 3", "HPC3", "prostate cancer, hereditary, 4", "prostate cancer, hereditary, type 4", "prostate cancer, susceptibility to, 4", "HPC4", "prostate cancer, hereditary, 5", "prostate cancer, hereditary, type 5", "HPC5", "prostate cancer, hereditary, 6", "prostate cancer, hereditary, type 6", "HPC6", "prostate cancer, hereditary, 7", "HPC7", "prostate cancer, hereditary, 9", "prostate cancer, hereditary, type 9", "HPC9", "prostate cancer, hereditary, 10", "HPC10", "prostate cancer, hereditary, 12", "EHBP1 familial prostate cancer", "familial prostate cancer caused by mutation in EHBP1", "prostate cancer, hereditary, type 12", "HPC12", "prostate cancer, hereditary, 13", "MSMB familial prostate cancer", "familial prostate cancer caused by mutation in MSMB", "prostate cancer, hereditary, type 13", "HPC13", "prostate cancer, hereditary, 11", "HPC11", "prostate cancer, hereditary, 14", "HPC14", "prostate cancer, hereditary, 15", "HPC15", "prostate cancer, hereditary", "Prostate cancer, hereditary, 1", "Prostate cancer, hereditary, 9", "Prostate cancer, hereditary, 12", "Prostate cancer, hereditary, 13", "Prostate cancer, hereditary, 11", "Prostate cancer" ], "id_list": [ "DOID:10283", "MONDO:0010257", "MONDO:0010405", "MONDO:0011098", "MONDO:0011270", "MONDO:0012093", "MONDO:0012094", "MONDO:0012244", "MONDO:0012300", "MONDO:0012470", "MONDO:0012597", "MONDO:0012620", "MONDO:0012741", "MONDO:0012758", "MONDO:0012768", "MONDO:0012769", "MONDO:0012770", "MONDO:0700275", "MIM:601518", 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differences between wild-type and the high bone mass mutant LRP5(G171V).", "journal": "J. Cell. Biochem.", "date": "2009", "authors": "Murrills RJ, Matteo JJ, Bhat BM, Coleburn VE, Allen KM, Chen W, Damagnez V, Bhat RA, Bex FJ, Bodine PV", "reference": { "type": "PubMed", "id": "19746449", "url": "https://pubmed.ncbi.nlm.nih.gov/19746449" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O94907-1", "protein_name": "Dickkopf-related protein 1", "gene_name": "DKK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75197-1", "protein_name": "Low-density lipoprotein receptor-related protein 5", "gene_name": "LRP5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O94907", "url": "https://www.uniprot.org/uniprotkb/O94907" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19746449", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Expression of two forms of human dopamine-beta-hydroxylase in COS cells.", "journal": "Neuroscience letters", "date": "1991", "authors": "Ishii A, Kobayashi K, Kiuchi K, Nagatsu T", "reference": { "type": "PubMed", "id": "1857555", "url": "https://pubmed.ncbi.nlm.nih.gov/1857555" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09172-1", "protein_name": "Dopamine beta-hydroxylase", "gene_name": "DBH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20711-1", "protein_name": "Aromatic-L-amino-acid decarboxylase", "gene_name": "DDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11086-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "PNMT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07101-1", "protein_name": "Tyrosine 3-monooxygenase", "gene_name": "TH", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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characterization of a cDNA clone encoding human aromatic L-amino acid decarboxylase.", "journal": "Biochemical and biophysical research communications", "date": "1989", "authors": "Ichinose H, Kurosawa Y, Titani K, Fujita K, Nagatsu T", "reference": { "type": "PubMed", "id": "2590185", "url": "https://pubmed.ncbi.nlm.nih.gov/2590185" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09172-1", "protein_name": "Dopamine beta-hydroxylase", "gene_name": "DBH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P46597-1", "protein_name": "Acetylserotonin O-methyltransferase", "gene_name": "ASMT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20711-1", "protein_name": "Aromatic-L-amino-acid decarboxylase", "gene_name": "DDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P17752-1", "protein_name": "Tryptophan 5-hydroxylase 1", "gene_name": "TPH1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IWU9-1", "protein_name": "Tryptophan 5-hydroxylase 2", 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assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Kaneda N, Ichinose H, Kobayashi K, Oka K, Kishi F, Nakazawa A, Kurosawa Y, Fujita K, Nagatsu T", "reference": { "type": "PubMed", "id": "3372503", "url": "https://pubmed.ncbi.nlm.nih.gov/3372503" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09172-1", "protein_name": "Dopamine beta-hydroxylase", "gene_name": "DBH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20711-1", "protein_name": "Aromatic-L-amino-acid decarboxylase", "gene_name": "DDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11086-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "PNMT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07101-1", "protein_name": "Tyrosine 3-monooxygenase", "gene_name": "TH", "tax_name": "Human" } ], "species": [ { "name": "Homo 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[] } ] }, { "title": "The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme.", "journal": "The EMBO journal", "date": "1987", "authors": "Lamouroux A, Vigny A, Faucon Biguet N, Darmon MC, Franck R, Henry JP, Mallet J", "reference": { "type": "PubMed", "id": "3443096", "url": "https://pubmed.ncbi.nlm.nih.gov/3443096" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P09172-1", "protein_name": "Dopamine beta-hydroxylase", "gene_name": "DBH", "tax_name": "Human" }, { "uniprot_canonical_ac": "P20711-1", "protein_name": "Aromatic-L-amino-acid decarboxylase", "gene_name": "DDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11086-1", "protein_name": "Phenylethanolamine N-methyltransferase", "gene_name": "PNMT", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07101-1", "protein_name": "Tyrosine 3-monooxygenase", "gene_name": "TH", "tax_name": "Human" } ], 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