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"count": 0 } ], "sort_fields": [] } ] }, { "title": "An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1992", "authors": "Cugini CD Jr, Leidy JW Jr, Chertow BS, Berard J, Bradley WE, Menke JB, Hao EH, Usala SJ", "reference": { "type": "PubMed", "id": "1314846", "url": "https://pubmed.ncbi.nlm.nih.gov/1314846" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10828-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "THRB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprotkb/P10828" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo 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Evidence for two `hot spot` regions of the ligand binding domain.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD", "reference": { "type": "PubMed", "id": "1661299", "url": "https://pubmed.ncbi.nlm.nih.gov/1661299" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10828-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "THRB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprotkb/P10828" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1661299", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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[] } ] }, { "title": "A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1991", "authors": "Usala SJ, Menke JB, Watson TL, Berard WE, Bradley C, Bale AE, Lash RW, Weintraub BD", "reference": { "type": "PubMed", "id": "1846005", "url": "https://pubmed.ncbi.nlm.nih.gov/1846005" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10828-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "THRB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprotkb/P10828" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1846005", "abstract": "", "glycosylation": [], 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], "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": "New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.", "journal": "Human mutation", "date": "1996", "authors": "Pohlenz J, Schonberger W, Wemme H, Winterpacht A, Wirth S, Zabel B", "reference": { "type": "PubMed", "id": "8664910", "url": "https://pubmed.ncbi.nlm.nih.gov/8664910" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10828-1", "protein_name": "Thyroid hormone receptor beta", 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: detection of two novel mutations.", "journal": "Human mutation", "date": "1996", "authors": "Seto D, Weintraub BD", "reference": { "type": "PubMed", "id": "8889584", "url": "https://pubmed.ncbi.nlm.nih.gov/8889584" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P10828-1", "protein_name": "Thyroid hormone receptor beta", "gene_name": "THRB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P10828", "url": "https://www.uniprot.org/uniprotkb/P10828" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8889584", "abstract": "", "glycosylation": [], "mutagenesis": 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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": "A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).", "journal": "Human molecular genetics", "date": "2004", "authors": "Fossdal R, Jonasson F, Kristjansdottir GT, Kong A, Stefansson H, Gosh S, Gulcher JR, Stefansson K", "reference": { "type": "PubMed", "id": "15016762", "url": "https://pubmed.ncbi.nlm.nih.gov/15016762" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P28347-1", "protein_name": "Transcriptional enhancer factor TEF-1", "gene_name": "TEAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P28347", "url": "https://www.uniprot.org/uniprotkb/P28347" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15016762", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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U.S.A.", "date": "2006", "authors": "Anbanandam Asokan, Albarado Diana C, Nguyen Catherine T, Halder Georg, Gao Xiaolian, Veeraraghavan Sudha", "reference": { "type": "PubMed", "id": "17085591", "url": "https://pubmed.ncbi.nlm.nih.gov/17085591" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P28347-1", "protein_name": "Transcriptional enhancer factor TEF-1", "gene_name": "TEAD1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P28347", "url": "https://www.uniprot.org/uniprotkb/P28347" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17085591", "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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Immunol.", "date": "2007", "authors": "Johnson Christopher M, Lyle Elizabeth A, Omueti Katherine O, Stepensky Vitaly A, Yegin Olcay, Alpsoy Erkan, Hamann Lutz, Schumann Ralf R, Tapping Richard I", "reference": { "type": "PubMed", "id": "17548585", "url": "https://pubmed.ncbi.nlm.nih.gov/17548585" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15399-1", "protein_name": "Toll-like receptor 1", "gene_name": "TLR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15399", "url": "https://www.uniprot.org/uniprotkb/Q15399" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17548585", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": 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Infect. Dis.", "date": "2009", "authors": "Schuring Ron P, Hamann Lutz, Faber William R, Pahan David, Richardus Jan Hendrik, Schumann Ralf R, Oskam Linda", "reference": { "type": "PubMed", "id": "19456232", "url": "https://pubmed.ncbi.nlm.nih.gov/19456232" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15399-1", "protein_name": "Toll-like receptor 1", "gene_name": "TLR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15399", "url": "https://www.uniprot.org/uniprotkb/Q15399" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "Q15399", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q15399" }, { "id": "rs4833095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs4833095" }, { "id": "rs4833095", "database": "1000Genomes", 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"authors": "Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB", "reference": { "type": "PubMed", "id": "24387994", "url": "https://pubmed.ncbi.nlm.nih.gov/24387994" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9ULP9-1", "protein_name": "TBC1 domain family member 24", "gene_name": "TBC1D24", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q3UUG6-1", "protein_name": "TBC1 domain family member 24", "gene_name": "Tbc1d24", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9ULP9", "url": "https://www.uniprot.org/uniprotkb/Q9ULP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24387994", 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