{ "uniprot_canonical_ac": "P19957-1", "uniprot_ac": "P19957", "uniprot_id": "ELAF_HUMAN", "mass": { "chemical_mass": 12270.0, "monoisotopic_mass": 12270.0 }, "refseq": { "ac": "NP_002629", "name": "elafin preproprotein", "summary": "This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, "gene_names": [ { "name": "PI3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P19957", "id": "P19957" }, { "name": "PI3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629", "id": "NP_002629" }, { "name": "WAP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P19957", "id": "P19957" }, { "name": "WFDC14", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P19957", "id": "P19957" }, { "name": "cementoin; ESI; SKALP; WAP3; WFDC14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629", "id": "NP_002629" } ], "protein_names": [ { "name": "Elafin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P19957" }, { "name": "ESI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "Elastase-specific inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "PI-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "Peptidase inhibitor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "Protease inhibitor WAP3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "SKALP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "Skin-derived antileukoproteinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "WAP four-disulfide core domain 14; protease inhibitor 3, skin-derived (SKALP); skin-derived antileukoproteinase; elastase-specific inhibitor; pre-elafin; trappin-2; PI-3; protease inhibitor WAP3; WAP four-disulfide core domain protein 14; peptidase inhibitor 3, skin-derived", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629", "id": "NP_002629" }, { "name": "WAP four-disulfide core domain protein 14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P19957" }, { "name": "elafin preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629", "id": "NP_002629" } ], "function": [ { "annotation": "Elafin as a Predictive Biomarker of Acute Skin Graft-Versus-Host Disease After Haploidentical Stem Cell Transplantation Using Post-Transplant High-Dose Cyclophosphamide. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "33679728", "url": "https://glygen.org/publication/PubMed/33679728" } ] }, { "annotation": "Evaluation of Elafin Immunohistochemical Expression as Marker of Cervical Cancer Severity.", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "33271565", "url": "https://glygen.org/publication/PubMed/33271565" } ] }, { "annotation": "Metabolic Syndrome, Clusterin and Elafin in Patients with Psoriasis Vulgaris. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "32764517", "url": "https://glygen.org/publication/PubMed/32764517" } ] }, { "annotation": "Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Has been shown to inhibit the alpha-4-beta-2/CHRNA2-CHRNB2 nicotinic acetylcholine receptor and to produce a weak inhibition on Kv11.1/KCNH2/ERG1 and on the transient receptor potential cation channel subfamily V member 1 (TRPV1) (PubMed:29483648).", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957#function" }, { "database": "PubMed", "id": "29483648", "url": "https://glygen.org/publication/PubMed/29483648" } ] }, { "annotation": "Severe Pulmonary Arterial Hypertension Is Characterized by Increased Neutrophil Elastase and Relative Elafin Deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "34181952", "url": "https://glygen.org/publication/PubMed/34181952" } ] }, { "annotation": "The synthesis of elafin is a novel effector function of gammadelta T cells which might be important for local immune defence GeneRIF: Elafin has important roles in normal homoeostasis and at sites of inflammation. These roles include antiprotease and antimicrobial activity.", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "19906197", "url": "https://glygen.org/publication/PubMed/19906197" } ] }, { "annotation": "This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" } ] }, { "annotation": "Upregulation of elafin expression in the fallopian tube of ectopic tubal pregnancies compared to the normal tubes.", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" }, { "database": "PubMed", "id": "32485443", "url": "https://glygen.org/publication/PubMed/32485443" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "61.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "87.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "54.84", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "42.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "68.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "72.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000124102", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124102" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "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 mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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 prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate 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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "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", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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 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"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 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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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 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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": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "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": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P19957", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P19957" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Academy of Sciences of the United States of America", "date": "1999", "authors": "Nemes Z, Marekov LN, Fesus L, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10411887", "url": "https://glygen.org/publication/PubMed/10411887" } ] }, { "title": "Initiation of assembly of the cell envelope barrier structure of stratified squamous epithelia.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Steinert PM, Marekov LN", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10588656", "url": "https://glygen.org/publication/PubMed/10588656" } ] }, { "title": "SPRR1 gene induction and barrier formation occur as coordinated moving fronts in terminally differentiating epithelia.", "journal": "The Journal of investigative dermatology", "date": "2000", "authors": "Marshall D, Hardman MJ, Byrne C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "10771479", "url": "https://glygen.org/publication/PubMed/10771479" } ] }, { "title": "Granulysin, a T cell product, kills bacteria by altering membrane permeability.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Ernst WA, Thoma-Uszynski S, Teitelbaum R, Ko C, Hanson DA, Clayberger C, Krensky AM, Leippe M, Bloom BR, Ganz T, Modlin RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11120840", "url": "https://glygen.org/publication/PubMed/11120840" } ] }, { "title": "Human intelectin is a novel soluble lectin that recognizes galactofuranose in carbohydrate chains of bacterial cell wall.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Tsuji S, Uehori J, Matsumoto M, Suzuki Y, Matsuhisa A, Toyoshima K, Seya T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11313366", "url": "https://glygen.org/publication/PubMed/11313366" } ] }, { "title": "Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter.", "journal": "Genomics", "date": "2001", "authors": "Wang A, Johnson DG, MacLeod MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11350120", "url": "https://glygen.org/publication/PubMed/11350120" } ] }, { "title": "Proprotein convertase expression and localization in epidermis: evidence for multiple roles and substrates.", "journal": "Experimental dermatology", "date": "2001", "authors": "Pearton DJ, Nirunsuksiri W, Rehemtulla A, Lewis SP, Presland RB, Dale BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11380615", "url": "https://glygen.org/publication/PubMed/11380615" } ] }, { "title": "Human cathelicidin, hCAP-18, is processed to the antimicrobial peptide LL-37 by extracellular cleavage with proteinase 3.", "journal": "Blood", "date": "2001", "authors": "Sorensen OE, Follin P, Johnsen AH, Calafat J, Tjabringa GS, Hiemstra PS, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11389039", "url": "https://glygen.org/publication/PubMed/11389039" } ] }, { "title": "Assembly of the epidermal cornified cell envelope.", "journal": "Journal of cell science", "date": "2001", "authors": "Kalinin A, Marekov LN, Steinert PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "11590230", "url": "https://glygen.org/publication/PubMed/11590230" } ] }, { "title": "PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx.", "journal": "Human molecular genetics", "date": "2002", "authors": "Bingle CD, Craven CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "11971875", "url": "https://glygen.org/publication/PubMed/11971875" } ] }, { "title": "Isolation and biochemical characterization of LEAP-2, a novel blood peptide expressed in the liver.", "journal": "Protein science : a publication of the Protein Society", "date": "2003", "authors": "Krause A, Sillard R, Kleemeier B, Kluver E, Maronde E, Conejo-Garcia JR, Forssmann WG, Schulz-Knappe P, Nehls MC, Wattler F, Wattler S, Adermann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "12493837", "url": "https://glygen.org/publication/PubMed/12493837" } ] }, { "title": "Fusion of lamellar body with plasma membrane is driven by the dual action of annexin II tetramer and arachidonic acid.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chattopadhyay S, Sun P, Wang P, Abonyo B, Cross NL, Liu L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "12902340", "url": "https://glygen.org/publication/PubMed/12902340" } ] }, { "title": "Primary structure of the human elafin precursor preproelafin deduced from the nucleotide sequence of its gene and the presence of unique repetitive sequences in the prosegment.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1992", "authors": "Hirose S., Saito Y., Hagiwara H., Tachibana S., Ito F., Saheki T., Kuroki J.", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "1339270", "url": "https://glygen.org/publication/PubMed/1339270" } ] }, { "title": "Mechanism of lysozyme catalysis: role of ground-state strain in subsite D in hen egg-white and human lysozymes.", "journal": "Biochemistry", "date": "1977", "authors": "Schindler M, Assaf Y, Sharon N, Chipman DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "13816", "url": "https://glygen.org/publication/PubMed/13816" } ] }, { "title": "Human peptidoglycan recognition protein-L is an N-acetylmuramoyl-L-alanine amidase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wang ZM, Li X, Cocklin RR, Wang M, Wang M, Fukase K, Inamura S, Kusumoto S, Gupta D, Dziarski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "14506276", "url": "https://glygen.org/publication/PubMed/14506276" } ] }, { "title": "Phylogenetic and evolutionary analysis of the PLUNC gene family.", "journal": "Protein science : a publication of the Protein Society", "date": "2004", "authors": "Bingle CD, LeClair EE, Havard S, Bingle L, Gillingham P, Craven CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "14739326", "url": "https://glygen.org/publication/PubMed/14739326" } ] }, { "title": "Co-assembly of envoplakin and periplakin into oligomers and Ca(2+)-dependent vesicle binding: implications for cornified cell envelope formation in stratified squamous epithelia.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kalinin AE, Idler WW, Marekov LN, McPhie P, Bowers B, Steinert PM, Steven AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15033990", "url": "https://glygen.org/publication/PubMed/15033990" } ] }, { "title": "Human bactericidal/permeability-increasing protein and a recombinant NH2-terminal fragment cause killing of serum-resistant gram-negative bacteria in whole blood and inhibit tumor necrosis factor release induced by the bacteria.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Weiss J, Elsbach P, Shu C, Castillo J, Grinna L, Horwitz A, Theofan G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "1522221", "url": "https://glygen.org/publication/PubMed/1522221" } ] }, { "title": "Antimicrobial activity of human EPPIN, an androgen-regulated, sperm-bound protein with a whey acidic protein motif.", "journal": "Biology of reproduction", "date": "2004", "authors": "Yenugu S, Richardson RT, Sivashanmugam P, Wang Z, O'rand MG, French FS, Hall SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "15229136", "url": "https://glygen.org/publication/PubMed/15229136" } ] }, { "title": "Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Groot KR, Sevilla LM, Nishi K, DiColandrea T, Watt FM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15337775", "url": "https://glygen.org/publication/PubMed/15337775" } ] }, { "title": "Isolation of elafin and elastase-specific inhibitor (ESI) from bronchial secretions. Evidence of sequence homology and immunological cross-reactivity.", "journal": "Biol. Chem. Hoppe-Seyler", "date": "1992", "authors": "Sallenave JM, Marsden MD, Ryle AP", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "1536690", "url": "https://glygen.org/publication/PubMed/1536690" } ] }, { "title": "Uptake of granulysin via lipid rafts leads to lysis of intracellular Listeria innocua.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Walch M, Eppler E, Dumrese C, Barman H, Groscurth P, Ziegler U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "15778384", "url": "https://glygen.org/publication/PubMed/15778384" } ] }, { "title": "Perp is a p63-regulated gene essential for epithelial integrity.", "journal": "Cell", "date": "2005", "authors": "Ihrie RA, Marques MR, Nguyen BT, Horner JS, Papazoglu C, Bronson RT, Mills AA, Attardi LD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15797384", "url": "https://glygen.org/publication/PubMed/15797384" } ] }, { "title": "The cornified envelope: a model of cell death in the skin.", "journal": "Nature reviews. Molecular cell biology", "date": "2005", "authors": "Candi E, Schmidt R, Melino G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "15803139", "url": "https://glygen.org/publication/PubMed/15803139" } ] }, { "title": "Crystal structure of a peptidoglycan recognition protein (PGRP) in complex with a muramyl tripeptide from Gram-positive bacteria.", "journal": "Journal of endotoxin research", "date": "2005", "authors": "Guan R, Roychowdury A, Ember B, Kumar S, Boons GJ, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "15826377", "url": "https://glygen.org/publication/PubMed/15826377" } ] }, { "title": "Human peptidoglycan recognition protein S is an effector of neutrophil-mediated innate immunity.", "journal": "Blood", "date": "2005", "authors": "Cho JH, Fraser IP, Fukase K, Kusumoto S, Fujimoto Y, Stahl GL, Ezekowitz RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "15956276", "url": "https://glygen.org/publication/PubMed/15956276" } ] }, { "title": "Identification of serum N-acetylmuramoyl-l-alanine amidase as liver peptidoglycan recognition protein 2.", "journal": "Biochimica et biophysica acta", "date": "2005", "authors": "Zhang Y, van der Fits L, Voerman JS, Melief MJ, Laman JD, Wang M, Wang H, Wang M, Li X, Walls CD, Gupta D, Dziarski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16054449", "url": "https://glygen.org/publication/PubMed/16054449" } ] }, { "title": "The epidermal barrier function is dependent on the serine protease CAP1/Prss8.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Leyvraz C, Charles RP, Rubera I, Guitard M, Rotman S, Breiden B, Sandhoff K, Hummler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16061697", "url": "https://glygen.org/publication/PubMed/16061697" } ] }, { "title": "Human antimicrobial peptides: defensins, cathelicidins and histatins.", "journal": "Biotechnology letters", "date": "2005", "authors": "De Smet K, Contreras R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16215847", "url": "https://glygen.org/publication/PubMed/16215847" } ] }, { "title": "SLPI and elafin: one glove, many fingers.", "journal": "Clinical science (London, England : 1979)", "date": "2006", "authors": "Williams SE, Brown TI, Roghanian A, Sallenave JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16336202", "url": "https://glygen.org/publication/PubMed/16336202" } ] }, { "title": "Peptidoglycan recognition proteins are a new class of human bactericidal proteins.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Lu X, Wang M, Qi J, Wang H, Li X, Gupta D, Dziarski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16354652", "url": "https://glygen.org/publication/PubMed/16354652" } ] }, { "title": "Cathepsin D is present in human eccrine sweat and involved in the postsecretory processing of the antimicrobial peptide DCD-1L.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Baechle D, Flad T, Cansier A, Steffen H, Schittek B, Tolson J, Herrmann T, Dihazi H, Beck A, Mueller GA, Mueller M, Stevanovic S, Garbe C, Mueller CA, Kalbacher H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16354654", "url": "https://glygen.org/publication/PubMed/16354654" } ] }, { "title": "Generation of multiple stable dermcidin-derived antimicrobial peptides in sweat of different body sites.", "journal": "The Journal of investigative dermatology", "date": "2006", "authors": "Rieg S, Seeber S, Steffen H, Humeny A, Kalbacher H, Stevanovic S, Kimura A, Garbe C, Schittek B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16374474", "url": "https://glygen.org/publication/PubMed/16374474" } ] }, { "title": "Expression and regulation of cornified envelope proteins in human corneal epithelium.", "journal": "Investigative ophthalmology & visual science", "date": "2006", "authors": "Tong L, Corrales RM, Chen Z, Villarreal AL, De Paiva CS, Beuerman R, Li DQ, Pflugfelder SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "16639001", "url": "https://glygen.org/publication/PubMed/16639001" } ] }, { "title": "Neutrophil serine proteases: specific regulators of inflammation.", "journal": "Nature reviews. Immunology", "date": "2006", "authors": "Pham CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16799473", "url": "https://glygen.org/publication/PubMed/16799473" } ] }, { "title": "Symbiotic bacteria direct expression of an intestinal bactericidal lectin.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Cash HL, Whitham CV, Behrendt CL, Hooper LV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16931762", "url": "https://glygen.org/publication/PubMed/16931762" } ] }, { "title": "Identification of RNase 8 as a novel human antimicrobial protein.", "journal": "Antimicrobial agents and chemotherapy", "date": "2006", "authors": "Rudolph B, Podschun R, Sahly H, Schubert S, Schroder JM, Harder J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "16940129", "url": "https://glygen.org/publication/PubMed/16940129" } ] }, { "title": "Peptidoglycan recognition proteins: pleiotropic sensors and effectors of antimicrobial defences.", "journal": "Nature reviews. Microbiology", "date": "2007", "authors": "Royet J, Dziarski R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "17363965", "url": "https://glygen.org/publication/PubMed/17363965" } ] }, { "title": "Structural insights into the bactericidal mechanism of human peptidoglycan recognition proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Cho S, Wang Q, Swaminathan CP, Hesek D, Lee M, Boons GJ, Mobashery S, Mariuzza RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "17502600", "url": "https://glygen.org/publication/PubMed/17502600" } ] }, { "title": "Caspase-14 protects against epidermal UVB photodamage and water loss.", "journal": "Nature cell biology", "date": "2007", "authors": "Denecker G, Hoste E, Gilbert B, Hochepied T, Ovaere P, Lippens S, Van den Broecke C, Van Damme P, D'Herde K, Hachem JP, Borgonie G, Presland RB, Schoonjans L, Libert C, Vandekerckhove J, Gevaert K, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "17515931", "url": "https://glygen.org/publication/PubMed/17515931" } ] }, { "title": "Large-scale identification of human genes implicated in epidermal barrier function.", "journal": "Genome biology", "date": "2007", "authors": "Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de Daruvar A, Wincker P, Serre G, Guerrin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "17562024", "url": "https://glygen.org/publication/PubMed/17562024" } ] }, { "title": "Characterization of an eppin protein complex from human semen and spermatozoa.", "journal": "Biology of reproduction", "date": "2007", "authors": "Wang Z, Widgren EE, Richardson RT, O'Rand MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "17567961", "url": "https://glygen.org/publication/PubMed/17567961" } ] }, { "title": "LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction.", "journal": "Molecular biology of the cell", "date": "2007", "authors": "Deraison C, Bonnart C, Lopez F, Besson C, Robinson R, Jayakumar A, Wagberg F, Brattsand M, Hachem JP, Leonardsson G, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { 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"type": "PubMed", "id": "18021746", "url": "https://glygen.org/publication/PubMed/18021746" } ] }, { "title": "Expression of cathelicidin LL-37 during Mycobacterium tuberculosis infection in human alveolar macrophages, monocytes, neutrophils, and epithelial cells.", "journal": "Infection and immunity", "date": "2008", "authors": "Rivas-Santiago B, Hernandez-Pando R, Carranza C, Juarez E, Contreras JL, Aguilar-Leon D, Torres M, Sada E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "18160480", "url": "https://glygen.org/publication/PubMed/18160480" } ] }, { "title": "The neuroendocrine peptide catestatin is a cutaneous antimicrobial and induced in the skin after injury.", "journal": "The Journal of investigative dermatology", "date": "2008", "authors": "Radek KA, Lopez-Garcia B, Hupe M, Niesman IR, Elias PM, Taupenot L, Mahata SK, O'Connor DT, Gallo RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "18185531", "url": "https://glygen.org/publication/PubMed/18185531" } ] }, { "title": "The antipathogen activities of eosinophil cationic protein.", "journal": "Current pharmaceutical biotechnology", "date": "2008", "authors": "Boix E, Torrent M, Sanchez D, Nogues MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "18673279", "url": "https://glygen.org/publication/PubMed/18673279" } ] }, { "title": "Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Alef T, Torres S, Hausser I, Metze D, Tursen U, Lestringant GG, Hennies HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "18843291", "url": "https://glygen.org/publication/PubMed/18843291" } ] }, { "title": "Regulation of C-type lectin antimicrobial activity by a flexible N-terminal prosegment.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Mukherjee S, Partch CL, Lehotzky RE, Whitham CV, Chu H, Bevins CL, Gardner KH, Hooper LV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "19095652", "url": "https://glygen.org/publication/PubMed/19095652" } ] }, { "title": "Lysozyme and microbiota in relation to gingivitis and periodontitis.", "journal": "Medical science monitor : international medical journal of experimental and clinical research", "date": "2009", "authors": "Surna A, Kubilius R, Sakalauskiene J, Vitkauskiene A, Jonaitis J, Saferis V, Gleiznys A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "19179970", "url": "https://glygen.org/publication/PubMed/19179970" } ] }, { "title": "Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor.", "journal": "PloS one", "date": "2009", "authors": "Meyer-Hoffert U, Wu Z, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19190773", "url": "https://glygen.org/publication/PubMed/19190773" } ] }, { "title": "SPINK9: a selective, skin-specific Kazal-type serine protease inhibitor.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "Brattsand M, Stefansson K, Hubiche T, Nilsson SK, Egelrud T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "19194479", "url": "https://glygen.org/publication/PubMed/19194479" } ] }, { "title": "Proteolytic activation of human pancreatitis-associated protein is required for peptidoglycan binding and bacterial aggregation.", "journal": "The Biochemical journal", "date": "2009", "authors": "Medveczky P, Szmola R, Sahin-Toth M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "19254208", "url": "https://glygen.org/publication/PubMed/19254208" } ] }, { "title": "Catalytic and non-catalytic functions of human IIA phospholipase A2.", "journal": "Trends in biochemical sciences", "date": "2010", "authors": "Birts CN, Barton CH, Wilton DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "19818633", "url": "https://glygen.org/publication/PubMed/19818633" } ] }, { "title": "Human gammadelta T cells produce the protease inhibitor and antimicrobial peptide elafin.", "journal": "Scandinavian journal of immunology", "date": "2009", "authors": "Marischen L, Wesch D, Schroder JM, Wiedow O, Kabelitz D", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" } ], "reference": [ { "type": "PubMed", "id": "19906197", "url": "https://glygen.org/publication/PubMed/19906197" } ] }, { "title": "Skin-derived antileukoproteinase (SKALP), an elastase inhibitor from human keratinocytes. Purification and biochemical properties.", "journal": "Biochim. Biophys. Acta", "date": "1991", "authors": "Schalkwijk J., de Jongh G.J., de Roo C.", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "2001428", "url": "https://glygen.org/publication/PubMed/2001428" } ] }, { "title": "Membrane structure and interactions of human catestatin by multidimensional solution and solid-state NMR spectroscopy.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2010", "authors": "Sugawara M, Resende JM, Moraes CM, Marquette A, Chich JF, Metz-Boutigue MH, Bechinger B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20103720", "url": "https://glygen.org/publication/PubMed/20103720" } ] }, { "title": "Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.", "journal": "The Journal of clinical investigation", "date": "2010", "authors": "Bonnart C, Deraison C, Lacroix M, Uchida Y, Besson C, Robin A, Briot A, Gonthier M, Lamant L, Dubus P, Monsarrat B, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20179351", "url": "https://glygen.org/publication/PubMed/20179351" } ] }, { "title": "Comparison of human RNase 3 and RNase 7 bactericidal action at the Gram-negative and Gram-positive bacterial cell wall.", "journal": "The FEBS journal", "date": "2010", "authors": "Torrent M, Badia M, Moussaoui M, Sanchez D, Nogues MV, Boix E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20180804", "url": "https://glygen.org/publication/PubMed/20180804" } ] }, { "title": "Molecular basis for peptidoglycan recognition by a bactericidal lectin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Lehotzky RE, Partch CL, Mukherjee S, Cash HL, Goldman WE, Gardner KH, Hooper LV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20382864", "url": "https://glygen.org/publication/PubMed/20382864" } ] }, { "title": "Secretory leukocyte protease inhibitor and elafin/trappin-2: versatile mucosal antimicrobials and regulators of immunity.", "journal": "American journal of respiratory cell and molecular biology", "date": "2010", "authors": "Sallenave JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20395631", "url": "https://glygen.org/publication/PubMed/20395631" } ] }, { "title": "Purification and characterization of elastase-specific inhibitor. Sequence homology with mucus proteinase inhibitor.", "journal": "Biol. Chem. Hoppe-Seyler", "date": "1991", "authors": "Ryle A.P., Sallenave J.-M.", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "2039600", "url": "https://glygen.org/publication/PubMed/2039600" } ] }, { "title": "Analysis of the solution structure of the human antibiotic peptide dermcidin and its interaction with phospholipid vesicles.", "journal": "BMB reports", "date": "2010", "authors": "Jung HH, Yang ST, Sim JY, Lee S, Lee JY, Kim HH, Shin SY, Kim JI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20510021", "url": "https://glygen.org/publication/PubMed/20510021" } ] }, { "title": "Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.", "journal": "Nature genetics", "date": "2010", "authors": "Sales KU, Masedunskas A, Bey AL, Rasmussen AL, Weigert R, List K, Szabo R, Overbeek PA, Bugge TH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20657595", "url": "https://glygen.org/publication/PubMed/20657595" } ] }, { "title": "Isolation of SPINK6 in human skin: selective inhibitor of kallikrein-related peptidases.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Meyer-Hoffert U, Wu Z, Kantyka T, Fischer J, Latendorf T, Hansmann B, Bartels J, He Y, Glaser R, Schroder JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20667819", "url": "https://glygen.org/publication/PubMed/20667819" } ] }, { "title": "Structural and functional analysis of human liver-expressed antimicrobial peptide 2.", "journal": "Chembiochem : a European journal of chemical biology", "date": "2010", "authors": "Henriques ST, Tan CC, Craik DJ, Clark RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "20845358", "url": "https://glygen.org/publication/PubMed/20845358" } ] }, { "title": "Kallikrein-related peptidase-8 (KLK8) is an active serine protease in human epidermis and sweat and is involved in a skin barrier proteolytic cascade.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Eissa A, Amodeo V, Smith CR, Diamandis EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "20940292", "url": "https://glygen.org/publication/PubMed/20940292" } ] }, { "title": "Inhibition of kallikrein-related peptidases by the serine protease inhibitor of Kazal-type 6.", "journal": "Peptides", "date": "2011", "authors": "Kantyka T, Fischer J, Wu Z, Declercq W, Reiss K, Schroder JM, Meyer-Hoffert U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21439340", "url": "https://glygen.org/publication/PubMed/21439340" } ] }, { "title": "Caspase-14 is required for filaggrin degradation to natural moisturizing factors in the skin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Hoste E, Kemperman P, Devos M, Denecker G, Kezic S, Yau N, Gilbert B, Lippens S, De Groote P, Roelandt R, Van Damme P, Gevaert K, Presland RB, Takahara H, Puppels G, Caspers P, Vandenabeele P, Declercq W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21654840", "url": "https://glygen.org/publication/PubMed/21654840" } ] }, { "title": "Distant cousins: genomic and sequence diversity within the BPI fold-containing (BPIF)/PLUNC protein family.", "journal": "Biochemical Society transactions", "date": "2011", "authors": "Bingle CD, Bingle L, Craven CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "21787330", "url": "https://glygen.org/publication/PubMed/21787330" } ] }, { "title": "Cuts by caspase-14 control the proteolysis of filaggrin.", "journal": "The Journal of investigative dermatology", "date": "2011", "authors": "Eckhart L, Tschachler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "21997417", "url": "https://glygen.org/publication/PubMed/21997417" } ] }, { "title": "Structure-activity analysis of the dermcidin-derived peptide DCD-1L, an anionic antimicrobial peptide present in human sweat.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Paulmann M, Arnold T, Linke D, Ozdirekcan S, Kopp A, Gutsmann T, Kalbacher H, Wanke I, Schuenemann VJ, Habeck M, Burck J, Ulrich AS, Schittek B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "22262861", "url": "https://glygen.org/publication/PubMed/22262861" } ] }, { "title": "Antimicrobial RNases in cutaneous defense.", "journal": "Journal of innate immunity", "date": "2012", "authors": "Simanski M, Koten B, Schroder JM, Glaser R, Harder J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "22327069", "url": "https://glygen.org/publication/PubMed/22327069" } ] }, { "title": "The multiple facets of dermcidin in cell survival and host defense.", "journal": "Journal of innate immunity", "date": "2012", "authors": "Schittek B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "22455996", "url": "https://glygen.org/publication/PubMed/22455996" } ] }, { "title": "Induction of the human cathelicidin LL-37 as a novel treatment against bacterial infections.", "journal": "Journal of leukocyte biology", "date": "2012", "authors": "van der Does AM, Bergman P, Agerberth B, Lindbom L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "22701042", "url": "https://glygen.org/publication/PubMed/22701042" } ] }, { "title": "Ribonuclease 7, an antimicrobial peptide upregulated during infection, contributes to microbial defense of the human urinary tract.", "journal": "Kidney international", "date": "2013", "authors": "Spencer JD, Schwaderer AL, Wang H, Bartz J, Kline J, Eichler T, DeSouza KR, Sims-Lucas S, Baker P, Hains DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "23302724", "url": "https://glygen.org/publication/PubMed/23302724" } ] }, { "title": "Crystal structure and functional mechanism of a human antimicrobial membrane channel.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Song C, Weichbrodt C, Salnikov ES, Dynowski M, Forsberg BO, Bechinger B, Steinem C, de Groot BL, Zachariae U, Zeth K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": 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Purification, characterization, and complete amino acid sequence.", "journal": "J. Biol. Chem.", "date": "1990", "authors": "Christophers E., Schroeder J.-M., Gregory H., Young J.A., Wiedow O.", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "2394696", "url": "https://glygen.org/publication/PubMed/2394696" } ] }, { "title": "Histatins: salivary peptides with copper(II)- and zinc(II)-binding motifs: perspectives for biomedical applications.", "journal": "The FEBS journal", "date": "2014", "authors": "Melino S, Santone C, Di Nardo P, Sarkar B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "24219363", "url": "https://glygen.org/publication/PubMed/24219363" } ] }, { "title": "Antibacterial membrane attack by a pore-forming intestinal C-type lectin.", "journal": "Nature", "date": "2014", "authors": "Mukherjee S, Zheng H, Derebe MG, Callenberg KM, Partch CL, Rollins D, Propheter DC, Rizo J, Grabe M, Jiang QX, Hooper LV", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "24256734", "url": "https://glygen.org/publication/PubMed/24256734" } ] }, { "title": "Ribonucleases 6 and 7 have antimicrobial function in the human and murine urinary tract.", "journal": "Kidney international", "date": "2015", "authors": "Becknell B, Eichler TE, Beceiro S, Li B, Easterling RS, Carpenter AR, James CL, McHugh KM, Hains DS, Partida-Sanchez S, Spencer JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "25075772", "url": "https://glygen.org/publication/PubMed/25075772" } ] }, { "title": "Neutrophil serine proteases in antibacterial defense.", "journal": "Current opinion in microbiology", "date": "2015", "authors": "Stapels DA, Geisbrecht BV, Rooijakkers SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "25461571", "url": "https://glygen.org/publication/PubMed/25461571" } ] }, { "title": "The secrets of dermcidin action.", "journal": "International journal of medical microbiology : IJMM", "date": "2015", "authors": "Burian M, Schittek B", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "25596890", "url": "https://glygen.org/publication/PubMed/25596890" } ] }, { "title": "Kallikrein-8 Proteolytically Processes Human Papillomaviruses in the Extracellular Space To Facilitate Entry into Host Cells.", "journal": "Journal of virology", "date": "2015", "authors": "Cerqueira C, Samperio Ventayol P, Vogeley C, Schelhaas M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "25926655", "url": "https://glygen.org/publication/PubMed/25926655" } ] }, { "title": "Recognition of microbial glycans by human intelectin-1.", "journal": "Nature structural & molecular biology", "date": "2015", "authors": "Wesener DA, Wangkanont K, McBride R, Song X, Kraft MB, Hodges HL, Zarling LC, Splain RA, Smith DF, Cummings RD, Paulson JC, Forest KT, Kiessling LL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "26148048", "url": "https://glygen.org/publication/PubMed/26148048" } ] }, { "title": "KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.", "journal": "PLoS genetics", "date": "2015", "authors": "Furio L, Pampalakis G, Michael IP, Nagy A, Sotiropoulou G, Hovnanian A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6809371", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809371" } ], "reference": [ { "type": "PubMed", "id": "26390218", "url": "https://glygen.org/publication/PubMed/26390218" } ] }, { "title": "Insights into the Antimicrobial Mechanism of Action of Human RNase6: Structural Determinants for Bacterial Cell Agglutination and Membrane Permeation.", "journal": "International journal of molecular sciences", "date": "2016", "authors": "Pulido D, Arranz-Trullen J, Prats-Ejarque G, Velazquez D, Torrent M, Moussaoui M, Boix E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6803157", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6803157" } ], "reference": [ { "type": "PubMed", "id": "27089320", "url": "https://glygen.org/publication/PubMed/27089320" } ] }, { "title": "Screening, large-scale production and structure-based classification of cystine-dense peptides.", "journal": "Nat. Struct. Mol. Biol.", "date": "2018", "authors": "Watson A., May D., Olson J.M., Clarke M., Strong R.K., Bandaranayake A.D., Chan M.K., Bahl C.D., Brusniak M.Y., Burke S.E., Correnti C.E., De Van Der Schueren W., Gewe M.M., Johnsen W.A., Mehlin C., Pilat K., Rupert P.B., Turnbaugh S.M.", "evidence": [ { "database": "UniProtKB", "id": "P19957", "url": "https://www.uniprot.org/uniprot/P19957" } ], "reference": [ { "type": "PubMed", "id": "29483648", "url": "https://glygen.org/publication/PubMed/29483648" } ] }, { "title": "Upregulation of elafin expression in the fallopian tube of ectopic tubal pregnancies compared to the normal tubes.", "journal": "Journal of reproductive immunology", "date": "2020", "authors": "Zakizadeh F, Mahmoudzadeh-Sagheb H, Asemi-Rad A, Ghasemi M, Moudi B, Sheibak N, Asadikalameh Z, Heidari Z", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" } ], "reference": [ { "type": "PubMed", "id": "32485443", "url": "https://glygen.org/publication/PubMed/32485443" } ] }, { "title": "Metabolic Syndrome, Clusterin and Elafin in Patients with Psoriasis Vulgaris.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Holmannova D, Borsky P, Borska L, Andrys C, Hamakova K, Rehacek V, Svadlakova T, Malkova A, Beranek M, Palicka V, Krejsek J, Fiala Z", "evidence": [ { "database": "RefSeq", "id": "NP_002629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002629" } ], "reference": [ { "type": "PubMed", "id": "32764517", "url": "https://glygen.org/publication/PubMed/32764517" } ] }, { "title": "Histatins, a novel family of histidine-rich proteins in human parotid secretion. 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