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"Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.", "journal": "American journal of human genetics", "date": "2010", "authors": "Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJ, Kohrman DC", "reference": { "type": "PubMed", "id": "20137774", "url": "https://pubmed.ncbi.nlm.nih.gov/20137774" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A8MXD5-1", "protein_name": "Glutaredoxin domain-containing cysteine-rich protein 1", "gene_name": "GRXCR1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q50H32-1", "protein_name": "Glutaredoxin domain-containing cysteine-rich protein 1", "gene_name": "Grxcr1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A8MXD5", "url": 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haemochromatosis.", "journal": "British journal of haematology", "date": "2004", "authors": "Lee PL, Barton JC, Brandhagen D, Beutler E", "reference": { "type": "PubMed", "id": "15461631", "url": "https://pubmed.ncbi.nlm.nih.gov/15461631" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZVN8-1", "protein_name": "Hemojuvelin", "gene_name": "HJV", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZVN8", "url": "https://www.uniprot.org/uniprotkb/Q6ZVN8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15461631", "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" ] 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.", "journal": "Blood", "date": "2009", "authors": "Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B", "reference": { "type": "PubMed", "id": "19357398", "url": "https://pubmed.ncbi.nlm.nih.gov/19357398" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6ZVN8-1", "protein_name": "Hemojuvelin", "gene_name": "HJV", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8IU80-4", "protein_name": "Transmembrane protease serine 6", "gene_name": "TMPRSS6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZVN8", "url": 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"journal": "Biochemical and biophysical research communications", "date": "2004", "authors": "Lin N, Liu S, Li N, Wu P, An H, Yu Y, Wan T, Cao X", "reference": { "type": "PubMed", "id": "15358180", "url": "https://pubmed.ncbi.nlm.nih.gov/15358180" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZP8-1", "protein_name": "Complement C1r subcomponent-like protein", "gene_name": "C1RL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZP8", "url": "https://www.uniprot.org/uniprotkb/Q9NZP8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15358180", "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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], "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": "Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Wicher KB, Fries E", "reference": { "type": "PubMed", "id": "15385675", "url": "https://pubmed.ncbi.nlm.nih.gov/15385675" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZP8-1", "protein_name": "Complement C1r subcomponent-like protein", 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