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Emerging Evidence from an Italian Cohort.", "journal": "International journal of molecular sciences", "date": "2023-01-27", "authors": "Di Lorenzo Francesca, Marchionni Enrica, Ferradini Valentina, Latini Andrea, Pezzoli Laura, Martino Annamaria, Romeo Fabiana, Iorio Annamaria, Bianchi Stefano, Iascone Maria, Cal\u00f2 Leonardo, Novelli Giuseppe, Mango Ruggiero, Sangiuolo Federica", "reference": { "type": "PubMed", "id": "36768812", "url": "https://pubmed.ncbi.nlm.nih.gov/36768812" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P15924-1", "protein_name": "Desmoplakin", "gene_name": "DSP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q02487-1", "protein_name": "Desmocollin-2", "gene_name": "DSC2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P15924", "url": "https://www.uniprot.org/uniprotkb/P15924" } ], "common_name": "Human", "glygen_name": "Human", 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Cell Biol.", "date": "1997", "authors": "Kowalczyk A P, Bornslaeger E A, Borgwardt J E, Palka H L, Dhaliwal A S, Corcoran C M, Denning M F, Green K J", "reference": { "type": "PubMed", "id": "9348293", "url": "https://pubmed.ncbi.nlm.nih.gov/9348293" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P15924-1", "protein_name": "Desmoplakin", "gene_name": "DSP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P15924", "url": "https://www.uniprot.org/uniprotkb/P15924" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9348293", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.", "journal": "Hum. 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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons.", "journal": "BMC medical genomics", "date": "2023-01-12", "authors": "Faheem Muhammad, Deneault Eric, Alexandrova Roumiana, Rodrigues Deivid C, Pellecchia Giovanna, Shum Carole, Zarrei Mehdi, Piekna Alina, Wei Wei, Howe Jennifer L, Thiruvahindrapuram Bhooma, Lamoureux Sylvia, Ross P Joel, Bradley Clarrisa A, Ellis James, Scherer Stephen W", "reference": { "type": "PubMed", "id": "36635662", "url": "https://pubmed.ncbi.nlm.nih.gov/36635662" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86TM3-1", "protein_name": "Probable ATP-dependent RNA helicase DDX53", "gene_name": "DDX53", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TM3", "url": "https://www.uniprot.org/uniprotkb/Q86TM3" } ], "common_name": "Human", 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Primate epididymis-specific proteins: characterization of ESC42, a novel protein containing a trefoil-like motif in monkey and human.", "journal": "Endocrinology", "date": "2001", "authors": "Liu Q, Hamil K G, Sivashanmugam P, Grossman G, Soundararajan R, Rao A J, Richardson R T, Zhang Y L, O'Rand M G, Petrusz P, French F S, Hall S H", "reference": { "type": "PubMed", "id": "11564719", "url": "https://pubmed.ncbi.nlm.nih.gov/11564719" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96PH6-1", "protein_name": "Defensin beta 118", "gene_name": "DEFB118", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PH6", "url": "https://www.uniprot.org/uniprotkb/Q96PH6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11564719", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The truncated human beta-defensin 118 can modulate lipopolysaccharide mediated inflammatory response in RAW264.7 macrophages.", "journal": "Peptides", "date": "2021", "authors": "Hou J, Liu HY, Diao H, Yu H", "reference": { "type": "PubMed", "id": "33181266", "url": "https://pubmed.ncbi.nlm.nih.gov/33181266" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96PH6-1", "protein_name": "Defensin beta 118", "gene_name": "DEFB118", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PH6", "url": "https://www.uniprot.org/uniprotkb/Q96PH6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33181266", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Microsc.", "date": "2008", "authors": "Block J, Stradal T E B, H\u00e4nisch J, Geffers R, K\u00f6stler S A, Urban E, Small J V, Rottner K, Faix J", "reference": { "type": "PubMed", "id": "18755006", "url": "https://pubmed.ncbi.nlm.nih.gov/18755006" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NSV4-3", "protein_name": "Protein diaphanous homolog 3", "gene_name": "DIAPH3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NSV4", "url": "https://www.uniprot.org/uniprotkb/Q9NSV4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18755006", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.", "journal": "Proc. 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