{ "uniprot_canonical_ac": "P05121-1", "uniprot_ac": "P05121", "uniprot_id": "PAI1_HUMAN", "mass": { "chemical_mass": 45060.0, "monoisotopic_mass": 45060.0 }, "refseq": { "ac": "NP_000593", "name": "plasminogen activator inhibitor 1 isoform 2 precursor", "summary": "This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, "gene_names": [ { "name": "SERPINE1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05121", "id": "P05121" }, { "name": "PAI1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05121", "id": "P05121" }, { "name": "PAI; PAI-1; PAI1; PLANH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593", "id": "NP_000593" }, { "name": "PLANH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05121", "id": "P05121" }, { "name": "SERPINE1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593", "id": "NP_000593" } ], "protein_names": [ { "name": "Plasminogen activator inhibitor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05121" }, { "name": "Endothelial plasminogen activator inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05121" }, { "name": "PAI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05121" }, { "name": "PAI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05121" }, { "name": "Serpin E1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05121" }, { "name": "plasminogen activator inhibitor 1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593", "id": "NP_000593" }, { "name": "serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1; endothelial plasminogen activator inhibitor; serpin E1; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593", "id": "NP_000593" } ], "function": [ { "annotation": "Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, { "database": "PubMed", "id": "37758852", "url": "https://glygen.org/publication/PubMed/37758852" } ] }, { "annotation": "MiR-181a plays the tumor-suppressor role in chronic myeloid leukemia CD34[ +] cells partially via SERPINE1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, { "database": "PubMed", "id": "38103082", "url": "https://glygen.org/publication/PubMed/38103082" } ] }, { "annotation": "Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration, independently of its role as protease inhibitor (PubMed:15001579, PubMed:9168821). It is required for stimulation of keratinocyte migration during cutaneous injury repair (PubMed:18386027). It is involved in cellular and replicative senescence (PubMed:16862142). Plays a role in alveolar type 2 cells senescence in the lung (By similarity). Is involved in the regulation of cementogenic differentiation of periodontal ligament stem cells, and regulates odontoblast differentiation and dentin formation during odontogenesis (PubMed:25808697, PubMed:27046084).", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121#function" }, { "database": "PubMed", "id": "9207454", "url": "https://glygen.org/publication/PubMed/9207454" }, { "database": "PubMed", "id": "17912461", "url": "https://glygen.org/publication/PubMed/17912461" }, { "database": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" }, { "database": "PubMed", "id": "16862142", "url": "https://glygen.org/publication/PubMed/16862142" }, { "database": "UniProtKB", "id": "P22777", "url": "https://www.uniprot.org/uniprot/P22777#function" }, { "database": "PubMed", "id": "25808697", "url": "https://glygen.org/publication/PubMed/25808697" }, { "database": "PubMed", "id": "9168821", "url": "https://glygen.org/publication/PubMed/9168821" }, { "database": "PubMed", "id": "27046084", "url": "https://glygen.org/publication/PubMed/27046084" }, { "database": "PubMed", "id": "8481516", "url": "https://glygen.org/publication/PubMed/8481516" }, { "database": "PubMed", "id": "15001579", "url": "https://glygen.org/publication/PubMed/15001579" }, { "database": "PubMed", "id": "18386027", "url": "https://glygen.org/publication/PubMed/18386027" }, { "database": "PubMed", "id": "9175705", "url": "https://glygen.org/publication/PubMed/9175705" } ] }, { "annotation": "Serpin E1 mediates the induction of renal tubular degeneration and premature senescence upon diabetic insult. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, { "database": "PubMed", "id": "37758806", "url": "https://glygen.org/publication/PubMed/37758806" } ] }, { "annotation": "Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, { "database": "PubMed", "id": "38057822", "url": "https://glygen.org/publication/PubMed/38057822" } ] }, { "annotation": "This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ] }, { "annotation": "Transcriptomic discovery of a theranostic signature (SERPINE1/MMP3/COL1A1/SPP1) for head and neck squamous cell carcinomas and identification of antrocinol as a candidate drug.", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" }, { "database": "PubMed", "id": "37859283", "url": "https://glygen.org/publication/PubMed/37859283" } ] } ], "disease": [ { "disease_id": "MONDO:0013227", "recommended_name": { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "congenital plasminogen activator inhibitor type 1 deficiency", "description": "Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency." }, "synonyms": [ { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "congenital PAI-1 deficiency", "description": "" }, { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "congenital plasminogen activator inhibitor type 1 deficiency", "description": "" }, { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "hyperfibrinolysis due to Pai1 deficiency", "description": "" }, { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "plasminogen activator INHIBITOR-1 deficiency", "description": "" }, { "id": "MONDO:0013227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013227", "name": "plasminogen activator inhibitor type 1 deficiency", "description": "" }, { "id": "MIM:613329", "resource": "MIM", "url": "https://www.omim.org/entry/613329", "name": "Plasminogen activator inhibitor-1 deficiency", "description": "Plasminogen activator inhibitor-1 deficiency" } ], "evidence": [ { "id": "613329", "database": "MIM", "url": "https://www.omim.org/entry/613329" } ] } ], "snv": [ { "evidence": [ { "id": "rs1052385929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052385929" }, { "id": "rs1052385929", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1052385929#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 114, "end_pos": 114, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IST->NST).", "chr_id": "7", "chr_pos": "101130490", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I114", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760533002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760533002" }, { "id": "rs760533002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760533002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 148, "end_pos": 148, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "7", "chr_pos": "101130591", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05121", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05121" } ], "glycoeffect": [], "start_pos": 15, "end_pos": 15, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: Lit. mined (2).", "chr_id": "7", "chr_pos": "101128436", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A15", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs138796302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138796302" }, { "id": "rs138796302", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138796302" }, { "id": "rs138796302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138796302" }, { "id": "rs138796302", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138796302#frequency_tab" }, { "id": "rs138796302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138796302" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 204, "end_pos": 204, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "7", "chr_pos": "101131979", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D204", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05121", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05121" }, { "id": "rs147003064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147003064" }, { "id": "rs147003064", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147003064" }, { "id": "rs147003064", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147003064" }, { "id": "rs147003064", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147003064#frequency_tab" }, { "id": "rs147003064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147003064" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 232, "end_pos": 232, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYT->SYT).", "chr_id": "7", "chr_pos": "101132064", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N232", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease 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"" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P05121", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05121" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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] }, { "title": "Smad3-Smad4 and AP-1 complexes synergize in transcriptional activation of the c-Jun promoter by transforming growth factor beta.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Wong C, Rougier-Chapman EM, Frederick JP, Datto MB, Liberati NT, Li JM, Wang XF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10022869", "url": "https://glygen.org/publication/PubMed/10022869" } ] }, { "title": "A Smad transcriptional corepressor.", "journal": "Cell", "date": "1999", "authors": "Wotton D, Lo RS, Lee S, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "10199400", "url": "https://glygen.org/publication/PubMed/10199400" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "The active conformation of plasminogen activator inhibitor 1, a target for drugs to control fibrinolysis and cell adhesion.", "journal": "Structure", "date": "1999", "authors": "Sharp A M, Stein P E, Pannu N S, Carrell R W, Berkenpas M B, Ginsburg D, Lawrence D A, Read R J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "10368279", "url": "https://glygen.org/publication/PubMed/10368279" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nat. Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain.", "journal": "Molecular and cellular neurosciences", "date": "2000", "authors": "Cotman SL, Halfter W, Cole GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10673326", "url": "https://glygen.org/publication/PubMed/10673326" } ] }, { "title": "Plasminogen activator inhibitor 1. Structure of the native serpin, comparison to its other conformers and implications for serpin inactivation.", "journal": "J. Mol. Biol.", "date": "2000", "authors": "Nar H, Bauer M, Stassen J M, Lang D, Gils A, Declerck P J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "10731421", "url": "https://glygen.org/publication/PubMed/10731421" } ] }, { "title": "Synergistic cooperation between Sp1 and Smad3/Smad4 mediates transforming growth factor beta1 stimulation of alpha 2(I)-collagen (COL1A2) transcription.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Zhang W, Ou J, Inagaki Y, Greenwel P, Ramirez F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11007770", "url": "https://glygen.org/publication/PubMed/11007770" } ] }, { "title": "Smad2, Smad3 and Smad4 cooperate with Sp1 to induce p15(Ink4B) transcription in response to TGF-beta.", "journal": "The EMBO journal", "date": "2000", "authors": "Feng XH, Lin X, Derynck R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11013220", "url": "https://glygen.org/publication/PubMed/11013220" } ] }, { "title": "CLIF, a novel cycle-like factor, regulates the circadian oscillation of plasminogen activator inhibitor-1 gene expression.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Maemura K, de la Monte SM, Chin MT, Layne MD, Hsieh CM, Yet SF, Perrella MA, Lee ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11018023", "url": "https://glygen.org/publication/PubMed/11018023" } ] }, { "title": "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegard D, Paulsson M, Maurer P", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11084047", "url": "https://glygen.org/publication/PubMed/11084047" } ] }, { "title": "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Fujimoto K, Shen M, Noshiro M, Matsubara K, Shingu S, Honda K, Yoshida E, Suardita K, Matsuda Y, Kato Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11162494", "url": "https://glygen.org/publication/PubMed/11162494" } ] }, { "title": "Genomic organization of the gene coding for human pre-B-cell colony enhancing factor and expression in human fetal membranes.", "journal": "Journal of molecular endocrinology", "date": "2001", "authors": "Ognjanovic S, Bao S, Yamamoto SY, Garibay-Tupas J, Samal B, Bryant-Greenwood GD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "11241162", "url": "https://glygen.org/publication/PubMed/11241162" } ] }, { "title": "Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Wiberg C, Hedbom E, Khairullina A, Lamande SR, Oldberg A, Timpl R, Morgelin M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "11259413", "url": "https://glygen.org/publication/PubMed/11259413" } ] }, { "title": "Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11274402", "url": "https://glygen.org/publication/PubMed/11274402" } ] }, { "title": "The putative tumor suppressor LRP1B, a novel member of the low density lipoprotein (LDL) receptor family, exhibits both overlapping and distinct properties with the LDL receptor-related protein.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Liu CX, Li Y, Obermoeller-McCormick LM, Schwartz AL, Bu G", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "11384978", "url": "https://glygen.org/publication/PubMed/11384978" } ] }, { "title": "Involvement of Smads in TGFbeta1-induced furin (fur) transcription.", "journal": "Journal of cellular physiology", "date": "2001", "authors": "Blanchette F, Rudd P, Grondin F, Attisano L, Dubois CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11424093", "url": "https://glygen.org/publication/PubMed/11424093" } ] }, { "title": "TGIF2 interacts with histone deacetylase 1 and represses transcription.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Melhuish TA, Gallo CM, Wotton D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "11427533", "url": "https://glygen.org/publication/PubMed/11427533" } ] }, { "title": "The blockage of the high-affinity lysine binding sites of plasminogen by EACA significantly inhibits prourokinase-induced plasminogen activation.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Sun Z, Chen YH, Wang P, Zhang J, Gurewich V, Zhang P, Liu JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "12007600", "url": "https://glygen.org/publication/PubMed/12007600" } ] }, { "title": "Circadian Transcription. Thinking outside the E-Box.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Munoz E, Brewer M, Baler R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12130638", "url": "https://glygen.org/publication/PubMed/12130638" } ] }, { "title": "E2F4/5 and p107 as Smad cofactors linking the TGFbeta receptor to c-myc repression.", "journal": "Cell", "date": "2002", "authors": "Chen CR, Kang Y, Siegel PM, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12150994", "url": "https://glygen.org/publication/PubMed/12150994" } ] }, { "title": "Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2002", "authors": "Di Cesare PE, Chen FS, Moergelin M, Carlson CS, Leslie MP, Perris R, Fang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "12225811", "url": "https://glygen.org/publication/PubMed/12225811" } ] }, { "title": "The 4G5G polymorphism in the gene for PAI-1 and the circadian oscillation of plasma PAI-1.", "journal": "Blood", "date": "2003", "authors": "van der Bom JG, Bots ML, Haverkate F, Kluft C, Grobbee DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12406875", "url": "https://glygen.org/publication/PubMed/12406875" } ] }, { "title": "Y-box-binding protein YB-1 mediates transcriptional repression of human alpha 2(I) collagen gene expression by interferon-gamma.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Suzuki N, Mitsui S, Mauviel A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12446674", "url": "https://glygen.org/publication/PubMed/12446674" } ] }, { "title": "Regulation of the PAI-1 promoter by circadian clock components: differential activation by BMAL1 and BMAL2.", "journal": "Journal of molecular and cellular cardiology", "date": "2003", "authors": "Schoenhard JA, Smith LH, Painter CA, Eren M, Johnson CH, Vaughan DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "12738229", "url": "https://glygen.org/publication/PubMed/12738229" } ] }, { "title": "Interferon-gamma interferes with transforming growth factor-beta signaling through direct interaction of YB-1 with Smad3.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Higashi K, Inagaki Y, Fujimori K, Nakao A, Kaneko H, Nakatsuka I", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "12917425", "url": "https://glygen.org/publication/PubMed/12917425" } ] }, { "title": "Isolation and characterization of alpha2-plasmin inhibitor from human plasma. A novel proteinase inhibitor which inhibits activator-induced clot lysis.", "journal": "The Journal of biological chemistry", "date": "1976", "authors": "Moroi M, Aoki N", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "134998", "url": "https://glygen.org/publication/PubMed/134998" } ] }, { "title": "Mapping of binding sites for heparin, plasminogen activator inhibitor-1, and plasminogen to vitronectin's heparin-binding region reveals a novel vitronectin-dependent feedback mechanism for the control of plasmin formation.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Kost C, Stuber W, Ehrlich HJ, Pannekoek H, Preissner KT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1376317", "url": "https://glygen.org/publication/PubMed/1376317" } ] }, { "title": "Isolation of dense granules from human platelets.", "journal": "Methods in enzymology", "date": "1992", "authors": "Fukami MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "1435334", "url": "https://glygen.org/publication/PubMed/1435334" } ] }, { "title": "Characterization of the proteins released from activated platelets leads to localization of novel platelet proteins in human atherosclerotic lesions.", "journal": "Blood", "date": "2004", "authors": "Coppinger JA, Cagney G, Toomey S, Kislinger T, Belton O, McRedmond JP, Cahill DJ, Emili A, Fitzgerald DJ, Maguire PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "14630798", "url": "https://glygen.org/publication/PubMed/14630798" } ] }, { "title": "Arkadia amplifies TGF-beta superfamily signalling through degradation of Smad7.", "journal": "The EMBO journal", "date": "2003", "authors": "Koinuma D, Shinozaki M, Komuro A, Goto K, Saitoh M, Hanyu A, Ebina M, Nukiwa T, Miyazawa K, Imamura T, Miyazono K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "14657019", "url": "https://glygen.org/publication/PubMed/14657019" } ] }, { "title": "A novel autofeedback loop of Dec1 transcription involved in circadian rhythm regulation.", "journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Kawamoto T, Noshiro M, Sato F, Maemura K, Takeda N, Nagai R, Iwata T, Fujimoto K, Furukawa M, Miyazaki K, Honma S, Honma Ki, Kato Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "14672706", "url": "https://glygen.org/publication/PubMed/14672706" } ] }, { "title": "Neurite outgrowth by the alternatively spliced region of human tenascin-C is mediated by neuronal alpha7beta1 integrin.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2004", "authors": "Mercado ML, Nur-e-Kamal A, Liu HY, Gross SR, Movahed R, Meiners S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "14715956", "url": "https://glygen.org/publication/PubMed/14715956" } ] }, { "title": "The low density lipoprotein receptor-related protein is a motogenic receptor for plasminogen activator inhibitor-1.", "journal": "The Journal of biological chemistry", "date": "2004-05-21", "authors": "Degryse Bernard, Neels Jaap G, Czekay Ralf-Peter, Aertgeerts Kathleen, Kamikubo Yu-Ichi, Loskutoff David J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "15001579", "url": "https://glygen.org/publication/PubMed/15001579" } ] }, { "title": "The mosaic receptor sorLA/LR11 binds components of the plasminogen-activating system and platelet-derived growth factor-BB similarly to LRP1 (low-density lipoprotein receptor-related protein), but mediates slow internalization of bound ligand.", "journal": "Biochem. J.", "date": "2004", "authors": "Gliemann J\u00f8rgen, Hermey Guido, Nykjaer Anders, Petersen Claus M, Jacobsen Christian, Andreasen Peter A", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "15053742", "url": "https://glygen.org/publication/PubMed/15053742" } ] }, { "title": "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Mann HH, Ozbek S, Engel J, Paulsson M, Wagener R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15075323", "url": "https://glygen.org/publication/PubMed/15075323" } ] }, { "title": "Sorting of furin in polarized epithelial and endothelial cells: expression beyond the Golgi apparatus.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "2004", "authors": "Mayer G, Boileau G, Bendayan M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "15100235", "url": "https://glygen.org/publication/PubMed/15100235" } ] }, { "title": "Menin is required for bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation through interaction with Smads and Runx2.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sowa H, Kaji H, Hendy GN, Canaff L, Komori T, Sugimoto T, Chihara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "15150273", "url": "https://glygen.org/publication/PubMed/15150273" } ] }, { "title": "Structural basis for interactions between tenascins and lectican C-type lectin domains: evidence for a crosslinking role for tenascins.", "journal": "Structure (London, England : 1993)", "date": "2004", "authors": "Lundell A, Olin AI, Morgelin M, al-Karadaghi S, Aspberg A, Logan DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "15296743", "url": "https://glygen.org/publication/PubMed/15296743" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Binding of the proteoglycan decorin to collagen type VI.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Bidanset DJ, Guidry C, Rosenberg LC, Choi HU, Timpl R, Hook M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "1544908", "url": "https://glygen.org/publication/PubMed/1544908" } ] }, { "title": "CLOCK is involved in the circadian transactivation of peroxisome-proliferator-activated receptor alpha (PPARalpha) in mice.", "journal": "The Biochemical journal", "date": "2005", "authors": "Oishi K, Shirai H, Ishida N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "15500444", "url": "https://glygen.org/publication/PubMed/15500444" } ] }, { "title": "Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Szabo R, Netzel-Arnett S, Hobson JP, Antalis TM, Bugge TH", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" } ] }, { "title": "Y-box protein-1 is the crucial mediator of antifibrotic interferon-gamma effects.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dooley S, Said HM, Gressner AM, Floege J, En-Nia A, Mertens PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "16278212", "url": "https://glygen.org/publication/PubMed/16278212" } ] }, { "title": "Interactions between collagen IX and biglycan measured by atomic force microscopy.", "journal": "Biochemical and biophysical research communications", "date": "2006", "authors": "Chen CH, Yeh ML, Geyer M, Wang GJ, Huang MH, Heggeness MH, Hook M, Luo ZP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16293224", "url": "https://glygen.org/publication/PubMed/16293224" } ] }, { "title": "Constitutively phosphorylated Smad3 interacts with Sp1 and p300 in scleroderma fibroblasts.", "journal": "Rheumatology (Oxford, England)", "date": "2006", "authors": "Ihn H, Yamane K, Asano Y, Jinnin M, Tamaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "16319104", "url": "https://glygen.org/publication/PubMed/16319104" } ] }, { "title": "Involvement of tenascin-C and PG-M/versican in flexor tenosynovial pathology of idiopathic carpal tunnel syndrome.", "journal": "Histology and histopathology", "date": "2006", "authors": "Tsujii M, Hirata H, Yoshida T, Imanaka-Yoshida K, Morita A, Uchida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "16493581", "url": "https://glygen.org/publication/PubMed/16493581" } ] }, { "title": "Circadian clock genes cause activation of the human PAI-1 gene promoter with 4G/5G allelic preference.", "journal": "FEBS letters", "date": "2006", "authors": "Chong NW, Codd V, Chan D, Samani NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "16857194", "url": "https://glygen.org/publication/PubMed/16857194" } ] }, { "title": "Plasminogen activator inhibitor-1 is a critical downstream target of p53 in the induction of replicative senescence.", "journal": "Nature cell biology", "date": "2006-08", "authors": "Kortlever Roderik M, Higgins Paul J, Bernards Ren\u00e9", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "16862142", "url": "https://glygen.org/publication/PubMed/16862142" } ] }, { "title": "Structural basis of latency in plasminogen activator inhibitor-1.", "journal": "Nature", "date": "1992", "authors": "Mottonen J, Strand A, Symersky J, Sweet R M, Danley D E, Geoghegan K F, Gerard R D, Goldsmith E J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "1731226", "url": "https://glygen.org/publication/PubMed/1731226" } ] }, { "title": "Smad7 antagonizes transforming growth factor beta signaling in the nucleus by interfering with functional Smad-DNA complex formation.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Zhang S, Fei T, Zhang L, Zhang R, Chen F, Ning Y, Han Y, Feng XH, Meng A, Chen YG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "17438144", "url": "https://glygen.org/publication/PubMed/17438144" } ] }, { "title": "Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Chen FH, Herndon ME, Patel N, Hecht JT, Tuan RS, Lawler J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "17588949", "url": "https://glygen.org/publication/PubMed/17588949" } ] }, { "title": "Evaluation of aprotinin and tranexamic acid in different in vitro and in vivo models of fibrinolysis, coagulation and thrombus formation.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Sperzel M, Huetter J", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "17666018", "url": "https://glygen.org/publication/PubMed/17666018" } ] }, { "title": "Highly stable plasminogen activator inhibitor type one (VLHL PAI-1) protects fibrin clots from tissue plasminogen activator-mediated fibrinolysis.", "journal": "International journal of molecular medicine", "date": "2007", "authors": "Jankun J, Aleem AM, Selman SH, Skrzypczak-Jankun E, Lysiak-Szydlowska W, Grafos N, Fryer HJ, Greenfield RS", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "17912461", "url": "https://glygen.org/publication/PubMed/17912461" } ] }, { "title": "Plasminogen activation by receptor-bound urokinase. A kinetic study with both cell-associated and isolated receptor.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ellis V, Behrendt N, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "1829461", "url": "https://glygen.org/publication/PubMed/1829461" } ] }, { "title": "SERPINE1 (PAI-1) is deposited into keratinocyte migration `trails` and required for optimal monolayer wound repair.", "journal": "Archives of dermatological research", "date": "2008-07", "authors": "Providence Kirwin M, Higgins Stephen P, Mullen Andrew, Battista Ashley, Samarakoon Rohan, Higgins Craig E, Wilkins-Port Cynthia E, Higgins Paul J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "18386027", "url": "https://glygen.org/publication/PubMed/18386027" } ] }, { "title": "Cellular receptor for urokinase plasminogen activator. Carboxyl-terminal processing and membrane anchoring by glycosyl-phosphatidylinositol.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ploug M, Ronne E, Behrendt N, Jensen AL, Blasi F, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "1846368", "url": "https://glygen.org/publication/PubMed/1846368" } ] }, { "title": "TAZ controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal.", "journal": "Nature cell biology", "date": "2008", "authors": "Varelas X, Sakuma R, Samavarchi-Tehrani P, Peerani R, Rao BM, Dembowy J, Yaffe MB, Zandstra PW, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "18568018", "url": "https://glygen.org/publication/PubMed/18568018" } ] }, { "title": "CLOCK/BMAL1 regulates human nocturnin transcription through binding to the E-box of nocturnin promoter.", "journal": "Molecular and cellular biochemistry", "date": "2008", "authors": "Li R, Yue J, Zhang Y, Zhou L, Hao W, Yuan J, Qiang B, Ding JM, Peng X, Cao JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "18587630", "url": "https://glygen.org/publication/PubMed/18587630" } ] }, { "title": "Plasminogen activator inhibitor variants PAI-1 A15T and PAI-2 S413C influence lung cancer prognosis.", "journal": "Lung cancer (Amsterdam, Netherlands)", "date": "2009", "authors": "Di Bernardo MC, Matakidou A, Eisen T, Houlston RS", "evidence": [ { "database": "Entrez", "id": "5054", "url": "https://www.ncbi.nlm.nih.gov/gene/5054" } ], "reference": [ { "type": "PubMed", "id": "19117638", "url": "https://glygen.org/publication/PubMed/19117638" } ] }, { "title": "Comparative analysis of gene regulation by the transcription factor PPARalpha between mouse and human.", "journal": "PloS one", "date": "2009", "authors": "Rakhshandehroo M, Hooiveld G, Muller M, Kersten S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "19710929", "url": "https://glygen.org/publication/PubMed/19710929" } ] }, { "title": "Nuclear CDKs drive Smad transcriptional activation and turnover in BMP and TGF-beta pathways.", "journal": "Cell", "date": "2009", "authors": "Alarcon C, Zaromytidou AI, Xi Q, Gao S, Yu J, Fujisawa S, Barlas A, Miller AN, Manova-Todorova K, Macias MJ, Sapkota G, Pan D, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "19914168", "url": "https://glygen.org/publication/PubMed/19914168" } ] }, { "title": "Decorin interacts with fibrillar collagen of embryonic and adult human skin.", "journal": "Journal of structural biology", "date": "1991", "authors": "Fleischmajer R, Fisher LW, MacDonald ED, Jacobs L Jr, Perlish JS, Termine JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2059554", "url": "https://glygen.org/publication/PubMed/2059554" } ] }, { "title": "Smad2 protects against TGF-beta/Smad3-mediated renal fibrosis.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2010", "authors": "Meng XM, Huang XR, Chung AC, Qin W, Shao X, Igarashi P, Ju W, Bottinger EP, Lan HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "20595680", "url": "https://glygen.org/publication/PubMed/20595680" } ] }, { "title": "The human receptor for urokinase plasminogen activator. NH2-terminal amino acid sequence and glycosylation variants.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Behrendt N, Ronne E, Ploug M, Petri T, Lober D, Nielsen LS, Schleuning WD, Blasi F, Appella E, Dano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2156852", "url": "https://glygen.org/publication/PubMed/2156852" } ] }, { "title": "Dentin matrix protein 1 (DMP1) signals via cell surface integrin.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wu H, Teng PN, Jayaraman T, Onishi S, Li J, Bannon L, Huang H, Close J, Sfeir C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21642437", "url": "https://glygen.org/publication/PubMed/21642437" } ] }, { "title": "The receptor for urokinase type plasminogen activator polarizes expression of the protease to the leading edge of migrating monocytes and promotes degradation of enzyme inhibitor complexes.", "journal": "The Journal of cell biology", "date": "1990", "authors": "Estreicher A, Muhlhauser J, Carpentier JL, Orci L, Vassalli JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2166055", "url": "https://glygen.org/publication/PubMed/2166055" } ] }, { "title": "Collagen I and III and their decorin modified surfaces studied by atomic force microscopy and the elucidation of their affinity toward positive apolipoprotein B-100 residue by quartz crystal microbalance.", "journal": "The Analyst", "date": "2011", "authors": "Witos J, Saint-Guirons J, Meinander K, D'Ulivo L, Riekkola ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "21789315", "url": "https://glygen.org/publication/PubMed/21789315" } ] }, { "title": "Dentin phosphoprotein (DPP) activates integrin-mediated anchorage-dependent signals in undifferentiated mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Eapen A, Ramachandran A, George A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "22134916", "url": "https://glygen.org/publication/PubMed/22134916" } ] }, { "title": "Impaired transforming growth factor-beta (TGF-beta) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Canaff L, Vanbellinghen JF, Kaji H, Goltzman D, Hendy GN", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "22275377", "url": "https://glygen.org/publication/PubMed/22275377" } ] }, { "title": "Resveratrol-induced changes of the human adipocyte secretion profile.", "journal": "J. Proteome Res.", "date": "2012", "authors": "Rosenow Anja, Noben Jean-Paul, Jocken Johan, Kallendrusch Sonja, Fischer-Posovszky Pamela, Mariman Edwin C M, Renes Johan", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "22905912", "url": "https://glygen.org/publication/PubMed/22905912" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Petersen TE, Martzen MR, Ichinose A, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2318848", "url": "https://glygen.org/publication/PubMed/2318848" } ] }, { "title": "The annexin A2/S100A10 system in health and disease: emerging paradigms.", "journal": "Journal of biomedicine & biotechnology", "date": "2012", "authors": "Hedhli N, Falcone DJ, Huang B, Cesarman-Maus G, Kraemer R, Zhai H, Tsirka SE, Santambrogio L, Hajjar KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "23193360", "url": "https://glygen.org/publication/PubMed/23193360" } ] }, { "title": "Glycoproteomic analysis of the secretome of human endothelial cells.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Yin X, Bern M, Xing Q, Ho J, Viner R, Mayr M", "evidence": [ { "database": "UniCarbKB", "id": "P05121", "url": "" }, { "database": "GlyConnect", "id": "639", "url": "https://glyconnect.expasy.org/browser/proteins/639" } ], "reference": [ { "type": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" } ] }, { "title": "Annexin A2 system in human biology: cell surface and beyond.", "journal": "Seminars in thrombosis and hemostasis", "date": "2013", "authors": "Luo M, Hajjar KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "23483454", "url": "https://glygen.org/publication/PubMed/23483454" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Immunoelectron microscopy of osteonectin and type I collagen in osteoblasts and bone matrix.", "journal": "Calcified tissue international", "date": "1990", "authors": "Romanowski R, Jundt G, Termine JD, von der Mark K, Schulz A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2364322", "url": "https://glygen.org/publication/PubMed/2364322" } ] }, { "title": "A 125/115-kDa cell surface receptor specific for vitronectin interacts with the arginine-glycine-aspartic acid adhesion sequence derived from fibronectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Pytela R, Pierschbacher MD, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2412224", "url": "https://glygen.org/publication/PubMed/2412224" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Platelet membrane glycoprotein IIb/IIIa: member of a family of Arg-Gly-Asp--specific adhesion receptors.", "journal": "Science (New York, N.Y.)", "date": "1986", "authors": "Pytela R, Pierschbacher MD, Ginsberg MH, Plow EF, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2420006", "url": "https://glygen.org/publication/PubMed/2420006" } ] }, { "title": "Plasminogen Activator Inhibitor Type 1 (PAI-1) A15T Gene Polymorphism Is Associated with Prognosis in Patients with EGFR Mutation Positive Pulmonary Adenocarcinoma.", "journal": "Tuberculosis and respiratory diseases", "date": "2013", "authors": "Lim JE, Park MS, Kim EY, Jung JY, Kang YA, Kim YS, Kim SK, Shim HS, Cho BC, Chang J", "evidence": [ { "database": "Entrez", "id": "5054", "url": "https://www.ncbi.nlm.nih.gov/gene/5054" } ], "reference": [ { "type": "PubMed", "id": "24265642", "url": "https://glygen.org/publication/PubMed/24265642" } ] }, { "title": "Endothelial plasminogen activator inhibitor (PAI): a new member of the Serpin gene family.", "journal": "EMBO J.", "date": "1986", "authors": "Pannekoek H, Veerman H, Lambers H, Diergaarde P, Verweij C L, van Zonneveld A J, van Mourik J A", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "2430793", "url": "https://glygen.org/publication/PubMed/2430793" } ] }, { "title": "Interaction of vitronectin with collagen.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Gebb C, Hayman EG, Engvall E, Ruoslahti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "2430969", "url": "https://glygen.org/publication/PubMed/2430969" } ] }, { "title": "Amino-acid sequence of human alpha 2-antiplasmin.", "journal": "European journal of biochemistry", "date": "1987", "authors": "Lijnen HR, Holmes WE, van Hoef B, Wiman B, Rodriguez H, Collen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2440681", "url": "https://glygen.org/publication/PubMed/2440681" } ] }, { "title": "Discovery of the Fibrinolysis Inhibitor AZD6564, Acting via Interference of a Protein-Protein Interaction.", "journal": "ACS medicinal chemistry letters", "date": "2014", "authors": "Cheng L, Pettersen D, Ohlsson B, Schell P, Karle M, Evertsson E, Pahlen S, Jonforsen M, Plowright AT, Bostrom J, Fex T, Thelin A, Hilgendorf C, Xue Y, Wahlund G, Lindberg W, Larsson LO, Gustafsson D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "24900876", "url": "https://glygen.org/publication/PubMed/24900876" } ] }, { "title": "The single-chain form of tissue-type plasminogen activator has catalytic activity: studies with a mutant enzyme that lacks the cleavage site.", "journal": "Biochemistry", "date": "1989", "authors": "Boose JA, Kuismanen E, Gerard R, Sambrook J, Gething MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2496749", "url": "https://glygen.org/publication/PubMed/2496749" } ] }, { "title": "Interaction between plasminogen activator inhibitor type 1 (PAI-1) bound to fibrin and either tissue-type plasminogen activator (t-PA) or urokinase-type plasminogen activator (u-PA). Binding of t-PA/PAI-1 complexes to fibrin mediated by both the finger and the kringle-2 domain of t-PA.", "journal": "The Journal of clinical investigation", "date": "1989", "authors": "Wagner OF, de Vries C, Hohmann C, Veerman H, Pannekoek H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2503541", "url": "https://glygen.org/publication/PubMed/2503541" } ] }, { "title": "Plasminogen activation initiated by single-chain urokinase-type plasminogen activator. Potentiation by U937 monocytes.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Ellis V, Scully MF, Kakkar VV", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2521625", "url": "https://glygen.org/publication/PubMed/2521625" } ] }, { "title": "Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Cubellis MV, Andreasen P, Ragno P, Mayer M, Dano K, Blasi F", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2544876", "url": "https://glygen.org/publication/PubMed/2544876" } ] }, { "title": "Recombinant Human Plasminogen Activator Inhibitor-1 Promotes Cementogenic Differentiation of Human Periodontal Ligament Stem Cells.", "journal": "Tissue engineering. Part A", "date": "2015-12", "authors": "Jin Hexiu, Choung Han-Wool, Lim Ki-Taek, Jin Bin, Jin Chengbiao, Chung Jong-Hoon, Choung Pill-Hoon", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "25808697", "url": "https://glygen.org/publication/PubMed/25808697" } ] }, { "title": "Structure and expression of the human gene encoding plasminogen activator inhibitor, PAI-1.", "journal": "Gene", "date": "1989", "authors": "Follo M, Ginsburg D", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "2612914", "url": "https://glygen.org/publication/PubMed/2612914" } ] }, { "title": "Recombinant Human Plasminogen Activator Inhibitor-1 Accelerates Odontoblastic Differentiation of Human Stem Cells from Apical Papilla.", "journal": "Tissue engineering. Part A", "date": "2016-05", "authors": "Jin Bin, Choung Pill-Hoon", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "27046084", "url": "https://glygen.org/publication/PubMed/27046084" } ] }, { "title": "Structure of the human plasminogen activator inhibitor 1 gene: nonrandom distribution of introns.", "journal": "Biochemistry", "date": "1987", "authors": "Loskutoff D J, Linders M, Keijer J, Veerman H, van Heerikhuizen H, Pannekoek H", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "2820474", "url": "https://glygen.org/publication/PubMed/2820474" } ] }, { "title": "PAI1: a novel PP1-interacting protein that mediates human plasma's anti-apoptotic effect in endothelial cells.", "journal": "J. Cell. Mol. Med.", "date": "2017", "authors": "Yao H, He G, Chen C, Yan S, Lu L, Song L, Vijayan KV, Li Q, Xiong L, Miao X, Deng X", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "28296156", "url": "https://glygen.org/publication/PubMed/28296156" } ] }, { "title": "A null mutation in SERPINE1 protects against biological aging in humans.", "journal": "Sci. Adv.", "date": "2017", "authors": "Khan Sadiya S, Shah Sanjiv J, Klyachko Ekaterina, Baldridge Abigail S, Eren Mesut, Place Aaron T, Aviv Abraham, Puterman Eli, Lloyd-Jones Donald M, Heiman Meadow, Miyata Toshio, Gupta Sweta, Shapiro Amy D, Vaughan Douglas E", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "29152572", "url": "https://glygen.org/publication/PubMed/29152572" } ] }, { "title": "Activation of plasminogen by pro-urokinase. I. Mechanism.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Lijnen HR, Zamarron C, Blaber M, Winkler ME, Collen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2935528", "url": "https://glygen.org/publication/PubMed/2935528" } ] }, { "title": "Interaction of one-chain and two-chain tissue plasminogen activator with intact and plasmin-degraded fibrin.", "journal": "Biochemistry", "date": "1987", "authors": "Higgins DL, Vehar GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "2962641", "url": "https://glygen.org/publication/PubMed/2962641" } ] }, { "title": "The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Sausville E, Carney D, Battey J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1368108", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1368108" } ], "reference": [ { "type": "PubMed", "id": "2991279", "url": "https://glygen.org/publication/PubMed/2991279" } ] }, { "title": "Amino acid sequence of human histidine-rich glycoprotein derived from the nucleotide sequence of its cDNA.", "journal": "Biochemistry", "date": "1986", "authors": "Koide T, Foster D, Yoshitake S, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "3011081", "url": "https://glygen.org/publication/PubMed/3011081" } ] }, { "title": "Binding of single-chain prourokinase to the urokinase receptor of human U937 cells.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Cubellis MV, Nolli ML, Cassani G, Blasi F", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "3023326", "url": "https://glygen.org/publication/PubMed/3023326" } ] }, { "title": "Plasminogen activator inhibitor type-1: reactive center and amino-terminal heterogeneity determined by protein and cDNA sequencing.", "journal": "FEBS Lett.", "date": "1986", "authors": "Andreasen P A, Riccio A, Welinder K G, Douglas R, Sartorio R, Nielsen L S, Oppenheimer C, Blasi F, Dan\u00f8 K", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3025016", "url": "https://glygen.org/publication/PubMed/3025016" } ] }, { "title": "cDNA cloning and expression in E. coli of a plasminogen activator inhibitor (PAI) related to a PAI produced by Hep G2 hepatoma cell.", "journal": "FEBS Lett.", "date": "1987", "authors": "Wun T C, Kretzmer K K", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3026837", "url": "https://glygen.org/publication/PubMed/3026837" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P05121", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Purification and characterization of a plasminogen activator inhibitor from the histiocytic lymphoma cell line U-937.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Kruithof EK, Vassalli JD, Schleuning WD, Mattaliano RJ, Bachmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "3090045", "url": "https://glygen.org/publication/PubMed/3090045" } ] }, { "title": "Cloning and sequence of a cDNA coding for the human beta-migrating endothelial-cell-type plasminogen activator inhibitor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Ny T, Sawdey M, Lawrence D, Millan J L, Loskutoff D J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3092219", "url": "https://glygen.org/publication/PubMed/3092219" } ] }, { "title": "cDNA cloning of human plasminogen activator-inhibitor from endothelial cells.", "journal": "J. Clin. Invest.", "date": "1986", "authors": "Ginsburg D, Zeheb R, Yang A Y, Rafferty U M, Andreasen P A, Nielsen L, Dano K, Lebo R V, Gelehrter T D", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3097076", "url": "https://glygen.org/publication/PubMed/3097076" } ] }, { "title": "Human plasminogen activator inhibitor-1 gene. Promoter and structural gene nucleotide sequences.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Bosma P J, van den Berg E A, Kooistra T, Siemieniak D R, Slightom J L", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3132455", "url": "https://glygen.org/publication/PubMed/3132455" } ] }, { "title": "TGF-beta1 Increases GDNF Production by Upregulating the Expression of GDNF and Furin in Human Granulosa-Lutein Cells.", "journal": "Cells", "date": "2020", "authors": "Yin J, Chang HM, Yi Y, Yao Y, Leung PCK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2173796", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2173796" } ], "reference": [ { "type": "PubMed", "id": "31936902", "url": "https://glygen.org/publication/PubMed/31936902" } ] }, { "title": "The organization of the human-plasminogen-activator-inhibitor-1 gene. Implications on the evolution of the serine-protease inhibitor family.", "journal": "Eur. J. Biochem.", "date": "1988", "authors": "Strandberg L, Lawrence D, Ny T", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "3262512", "url": "https://glygen.org/publication/PubMed/3262512" } ] }, { "title": "Serpin E1 mediates the induction of renal tubular degeneration and premature senescence upon diabetic insult.", "journal": "Scientific reports", "date": "2023-09-27", "authors": "Chen Bo Han, Lu Xiao Qing, Liang Xian Hui, Wang Pei", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ], "reference": [ { "type": "PubMed", "id": "37758806", "url": "https://glygen.org/publication/PubMed/37758806" } ] }, { "title": "Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions.", "journal": "Heart and vessels", "date": "2024-01", "authors": "Zhang Yanxia, Liu Jieqiong", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ], "reference": [ { "type": "PubMed", "id": "37758852", "url": "https://glygen.org/publication/PubMed/37758852" } ] }, { "title": "Transcriptomic discovery of a theranostic signature (SERPINE1/MMP3/COL1A1/SPP1) for head and neck squamous cell carcinomas and identification of antrocinol as a candidate drug.", "journal": "Computers in biology and medicine", "date": "2022-11", "authors": "Shih Ming-Lang, Lee Jih-Chin, Cheng Sheng-Yao, Lawal Bashir, Ho Ching-Liang, Wu Cheng-Chia, Tzeng David T W, Chen Jia-Hong, Wu Alexander T H", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ], "reference": [ { "type": "PubMed", "id": "37859283", "url": "https://glygen.org/publication/PubMed/37859283" } ] }, { "title": "Spontaneous miscarriage driven by maternal genetic mutation at position of PAI-1-844G/A: shed light on a race-specific genetic polymorphism.", "journal": "BMC research notes", "date": "2023-12-06", "authors": "Ameri Afrah, Khashei Varnamkhasti Khalil, Parhoudeh Sara, Khashei Varnamkhasti Samire, Naeimi Leila, Naeimi Sirous", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ], "reference": [ { "type": "PubMed", "id": "38057822", "url": "https://glygen.org/publication/PubMed/38057822" } ] }, { "title": "miR-181a plays the tumor-suppressor role in chronic myeloid leukemia CD34\u2009+\u2009cells partially via SERPINE1.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2023-12-16", "authors": "Zhang Xiuyan, Ma Wenjuan, Xue Wen, Wang Yu, Chen Pan, Li Quanxue, Li Yuan-Yuan, Hu Xiaohui, Zhao Yun, Zhou Haixia", "evidence": [ { "database": "RefSeq", "id": "NP_000593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000593" } ], "reference": [ { "type": "PubMed", "id": "38103082", "url": "https://glygen.org/publication/PubMed/38103082" } ] }, { "title": "Cartilage proteoglycan binding region and link protein. Radioimmunoassays and the detection of masked determinants in aggregates.", "journal": "The Biochemical journal", "date": "1983", "authors": "Ratcliffe A, Hardingham T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6193777", "url": "https://glygen.org/publication/PubMed/6193777" } ] }, { "title": "Tissue plasminogen activator: peptide analyses confirm an indirectly derived amino acid sequence, identify the active site serine residue, establish glycosylation sites, and localize variant differences.", "journal": "Biochemistry", "date": "1984", "authors": "Pohl G, Kallstrom M, Bergsdorf N, Wallen P, Jornvall H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "6433976", "url": "https://glygen.org/publication/PubMed/6433976" } ] }, { "title": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.", "journal": "The Biochemical journal", "date": "1984", "authors": "Vogel KG, Paulsson M, Heinegard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "6439184", "url": "https://glygen.org/publication/PubMed/6439184" } ] }, { "title": "Isolation and characterization of a human plasma protein with affinity for the lysine binding sites in plasminogen. Role in the regulation of fibrinolysis and identification as histidine-rich glycoprotein.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Lijnen HR, Hoylaerts M, Collen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "6448849", "url": "https://glygen.org/publication/PubMed/6448849" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Kinetics of the activation of plasminogen by human tissue plasminogen activator. Role of fibrin.", "journal": "The Journal of biological chemistry", "date": "1982", "authors": "Hoylaerts M, Rijken DC, Lijnen HR, Collen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-75205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75205" } ], "reference": [ { "type": "PubMed", "id": "7199524", "url": "https://glygen.org/publication/PubMed/7199524" } ] }, { "title": "Binding of tenascin-C to soluble fibronectin and matrix fibrils.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Chung CY, Zardi L, Erickson HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7499434", "url": "https://glygen.org/publication/PubMed/7499434" } ] }, { "title": "Identification of a PAI-1 binding site in vitronectin.", "journal": "Biochim. Biophys. Acta", "date": "1994", "authors": "Sigurdardottir O, Wiman B", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "7522053", "url": "https://glygen.org/publication/PubMed/7522053" } ] }, { "title": "Tenascin-R (J1 160/180 inhibits fibronectin-mediated cell adhesion--functional relatedness to tenascin-C.", "journal": "Journal of cell science", "date": "1994", "authors": "Pesheva P, Probstmeier R, Skubitz AP, McCarthy JB, Furcht LT, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7527058", "url": "https://glygen.org/publication/PubMed/7527058" } ] }, { "title": "Alpha v beta 1 is a receptor for vitronectin and fibrinogen, and acts with alpha 5 beta 1 to mediate spreading on fibronectin.", "journal": "Journal of cell science", "date": "1995", "authors": "Marshall JF, Rutherford DC, McCartney AC, Mitjans F, Goodman SL, Hart IR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7542669", "url": "https://glygen.org/publication/PubMed/7542669" } ] }, { "title": "Mechanisms contributing to the conformational and functional flexibility of plasminogen activator inhibitor-1.", "journal": "Nat. Struct. Biol.", "date": "1995", "authors": "Aertgeerts K, De Bondt H L, De Ranter C J, Declerck P J", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "reference": [ { "type": "PubMed", "id": "7552714", "url": "https://glygen.org/publication/PubMed/7552714" } ] }, { "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "7559467", "url": "https://glygen.org/publication/PubMed/7559467" } ] }, { "title": "The alpha v beta 5 integrin receptor regulates receptor-mediated endocytosis of vitronectin.", "journal": "The Journal of biological chemistry", "date": "1993", 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"" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell migration", "id": "GO:0014912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014912", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell-matrix adhesion", "id": "GO:2000098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000098", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "positive regulation of blood coagulation", "id": "GO:0030194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030194", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of endopeptidase activity", "id": "GO:0010951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010951", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "replicative senescence", "id": "GO:0090399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090399", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 8, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "serine protease inhibitor complex", "id": "GO:0097180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097180", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" }, { "name": "peptidase inhibitor complex", "id": "GO:1904090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904090", "evidence": [ { "database": "UniProtKB", "id": "P05121", "url": "https://www.uniprot.org/uniprot/P05121" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "plasminogen activator inhibitor 1 N-glycosylated 1 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G07799LX. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G07799LX. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053452", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053452" } ] }, { "name": "plasminogen activator inhibitor 1 N-glycosylated 2 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G49955PK. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053453", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053453" } ] }, { "name": "plasminogen activator inhibitor 1 N-glycosylated 3 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G72791KH. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G72791KH. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053454", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053454" } ] }, { "name": "plasminogen activator inhibitor 1 N-glycosylated 4 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:23345538]", "evidence": [ { "id": "PR:000053455", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053455" } ] }, { "name": "plasminogen activator inhibitor 1 O-glycosylated 1 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Ser-359 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P05121-1, Ser-359, MOD:00002~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053456", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053456" } ] }, { "name": "plasminogen activator inhibitor 1 O-glycosylated 2 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Ser-359 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05121-1, Ser-359, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053457", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053457" } ] }, { "name": "plasminogen activator inhibitor 1 O-glycosylated 3 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Ser-360 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05121-1, Ser-360, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053458", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053458" } ] }, { "name": "plasminogen activator inhibitor 1 O-glycosylated 4 (human)", "definition": "A plasminogen activator inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Thr-362 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05121-1, Thr-362, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053459", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053459" } ] } ], "site_annotation": [ { "start_pos": 232, "end_pos": 234, "annotation": "n_glycosylation_sequon" }, { "start_pos": 288, "end_pos": 290, "annotation": "n_glycosylation_sequon" }, { "start_pos": 352, "end_pos": 354, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 232, 288, 352 ], "o_linked_sites": [ 359, 360, 362 ], "snv_sites": [ 15, 114, 148, 204, 232, 234, 238, 255, 340, 360, 389 ], "glycation_sites": [], "phosphorylation_sites": [ 72 ], "sequon_annotation_sites": [ { "start_pos": 232, "end_pos": 234 }, { "start_pos": 288, "end_pos": 290 }, { "start_pos": 352, "end_pos": 354 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 8 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 8 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 153 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }