[ { "title": "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.", "journal": "Nat. Genet.", "date": "1996", "authors": "Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N", "reference": { "type": "PubMed", "id": "8640223", "url": "https://pubmed.ncbi.nlm.nih.gov/8640223" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13613-1", "protein_name": "Phosphatidylinositol-3-phosphate phosphatase MTMR1", "gene_name": "MTMR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13614-1", "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2", "gene_name": "MTMR2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13496-1", "protein_name": "Myotubularin", "gene_name": "MTM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13615-1", "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR3", "gene_name": "MTMR3", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q13495-1", "protein_name": "Mastermind-like domain-containing protein 1", "gene_name": "MAMLD1", 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Chem.", "date": "2003", "authors": "Sato S, Tomomori-Sato C, Banks CA, Parmely TJ, Sorokina I, Brower CS, Conaway RC, Conaway JW", "reference": { "type": "PubMed", "id": "14576168", "url": "https://pubmed.ncbi.nlm.nih.gov/14576168" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NX70-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 29", "gene_name": "MED29", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NX70", "url": "https://www.uniprot.org/uniprotkb/Q9NX70" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.14576168", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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Med. 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J. Hum. Genet.", "date": "2015", "authors": "Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M", "reference": { "type": "PubMed", "id": "25712080", "url": "https://pubmed.ncbi.nlm.nih.gov/25712080" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q71F56-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 13-like", "gene_name": "MED13L", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21579-1", "protein_name": "Synaptotagmin-1", "gene_name": "SYT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q71F56", "url": "https://www.uniprot.org/uniprotkb/Q71F56" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.25712080", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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": "Redefining the MED13L syndrome.", "journal": "Eur. 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Genet.", "date": "2015", "authors": "Adegbola Abidemi, Musante Luciana, Callewaert Bert, Maciel Patricia, Hu Hao, Isidor Bertrand, Picker-Minh Sylvie, Le Caignec Cedric, Delle Chiaie Barbara, Vanakker Olivier, Menten Bj\u00f6rn, Dheedene Annelies, Bockaert Nele, Roelens Filip, Decaestecker Karin, Silva Jo\u00e3o, Soares Gabriela, Lopes F\u00e1tima, Najmabadi Hossein, Kahrizi Kimia, Cox Gerald F, Angus Steven P, Staropoli John F, Fischer Ute, Suckow Vanessa, Bartsch Oliver, Chess Andrew, Ropers Hans-Hilger, Wienker Thomas F, H\u00fcbner Christoph, Kaindl Angela M, Kalscheuer Vera M", "reference": { "type": "PubMed", "id": "25758992", "url": "https://pubmed.ncbi.nlm.nih.gov/25758992" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q71F56-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 13-like", "gene_name": "MED13L", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J", "reference": { "type": "PubMed", "id": "29511999", "url": "https://pubmed.ncbi.nlm.nih.gov/29511999" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q71F56-1", "protein_name": "Mediator of RNA polymerase II transcription subunit 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Could the MED13 mutations manifest as a Kabuki-like syndrome?", "journal": "American journal of medical genetics. 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Chem.", "date": "1999", "authors": "McAleer M A, Breen M A, White N L, Matthews N", "reference": { "type": "PubMed", "id": "10438534", "url": "https://pubmed.ncbi.nlm.nih.gov/10438534" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15440-1", "protein_name": "ATP-binding cassette sub-family C member 5", "gene_name": "ABCC5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15440", "url": "https://www.uniprot.org/uniprotkb/O15440" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10438534", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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G, Pylypenko O, Houdusse A, Echard A", "reference": { "type": "PubMed", "id": "28230050", "url": "https://pubmed.ncbi.nlm.nih.gov/28230050" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8TDZ2-1", "protein_name": "[F-actin]-monooxygenase MICAL1", "gene_name": "MICAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q15286-1", "protein_name": "Ras-related protein Rab-35", "gene_name": "RAB35", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TDZ2", "url": "https://www.uniprot.org/uniprotkb/Q8TDZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28230050", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "PMPCB Silencing Sensitizes HCC Tumor Cells to Sorafenib Therapy.", "journal": "Molecular therapy : the journal of the American Society of Gene Therapy", "date": "2019", "authors": "Zheng JF, He S, Zeng Z, Gu X, Cai L, Qi G", "reference": { "type": "PubMed", "id": "31337603", "url": "https://pubmed.ncbi.nlm.nih.gov/31337603" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75439-1", "protein_name": "Mitochondrial-processing peptidase subunit beta", "gene_name": "PMPCB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75439", "url": "https://www.uniprot.org/uniprotkb/O75439" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31337603", "abstract": "", 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