[ { "title": "Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1.", "journal": "Pediatric neurology", "date": "2023-02-24", "authors": "Craddock Kirsten E, McKee Jillian L, Fitzgerald Mark, Ahrens-Nicklas Rebecca, Agarwal Sonika", "reference": { "type": "PubMed", "id": "36933275", "url": "https://pubmed.ncbi.nlm.nih.gov/36933275" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NBU5-1", "protein_name": "Outer mitochondrial transmembrane helix translocase", "gene_name": "ATAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NBU5", "url": "https://www.uniprot.org/uniprotkb/Q8NBU5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36933275", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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Howson JM, Cooper JD, Walker NM, Stevens H, Wicker LS, Todd JA", "reference": { "type": "PubMed", "id": "19110536", "url": "https://pubmed.ncbi.nlm.nih.gov/19110536" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NDB2-1", "protein_name": "B-cell scaffold protein with ankyrin repeats", "gene_name": "BANK1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q96KS9-1", "protein_name": "Protein FAM167A", "gene_name": "FAM167A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDB2", "url": "https://www.uniprot.org/uniprotkb/Q8NDB2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19110536", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "IKBKE and BANK1 Polymorphisms and Clinical Characteristics in Chinese Women with Systemic Lupus Erythematosus.", "journal": "Immunological investigations", "date": "2022", "authors": "Zhang P, Zhai J, Wang K, Wu Y", "reference": { "type": "PubMed", "id": "35930382", "url": "https://pubmed.ncbi.nlm.nih.gov/35930382" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8NDB2-1", "protein_name": "B-cell scaffold protein with ankyrin repeats", "gene_name": "BANK1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NDB2", "url": "https://www.uniprot.org/uniprotkb/Q8NDB2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35930382", "abstract": "", "glycosylation": [], 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phosphorylation of Atoh1 is critical for medulloblastoma growth.", "journal": "eLife", "date": "2017", "authors": "Klisch TJ, Vainshtein A, Patel AJ, Zoghbi HY", "reference": { "type": "PubMed", "id": "29168692", "url": "https://pubmed.ncbi.nlm.nih.gov/29168692" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92858-1", "protein_name": "Transcription factor ATOH1", "gene_name": "ATOH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92858", "url": "https://www.uniprot.org/uniprotkb/Q92858" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "phosphorylation": [ { "start_pos": 80, "end_pos": 80, "kinase_uniprot_canonical_ac": "O60674-1", "kinase_gene_name": "JAK2", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92858", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92858" }, { 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Genet.", "date": "2020", "authors": "Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthorsson AO, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB", "reference": { "type": "PubMed", "id": "33111345", "url": "https://pubmed.ncbi.nlm.nih.gov/33111345" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92858-1", "protein_name": "Transcription factor ATOH1", "gene_name": "ATOH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", 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the cancer region of intraductal papillary mucinous neoplasm.", "journal": "Cancer science", "date": "2021", "authors": "Katsukura N, Watanabe S, Shirasaki T, Hibiya S, Kano Y, Akahoshi K, Tanabe M, Kirimura S, Akashi T, Kitagawa M, Okamoto R, Watanabe M, Tsuchiya K", "reference": { "type": "PubMed", "id": "33275808", "url": "https://pubmed.ncbi.nlm.nih.gov/33275808" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92858-1", "protein_name": "Transcription factor ATOH1", "gene_name": "ATOH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92858", "url": "https://www.uniprot.org/uniprotkb/Q92858" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33275808", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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[] } ] }, { "title": "Potential diagnostic value of a type X collagen neo-epitope biomarker for knee osteoarthritis.", "journal": "Osteoarthritis and cartilage", "date": "2019-04", "authors": "He Y, Manon-Jensen T, Arendt-Nielsen L, Petersen K K, Christiansen T, Samuels J, Abramson S, Karsdal M A, Attur M, Bay-Jensen A C", "reference": { "type": "PubMed", "id": "30654118", "url": "https://pubmed.ncbi.nlm.nih.gov/30654118" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q03692-1", "protein_name": "Collagen alpha-1(X) chain", "gene_name": "COL10A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03692", "url": "https://www.uniprot.org/uniprotkb/Q03692" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30654118", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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