[ { "title": "Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.", "journal": "Eur. J. Hum. Genet.", "date": "2014", "authors": "Poulter James A, El-Sayed Walid, Shore Roger C, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J", "reference": { "type": "PubMed", "id": "23632796", "url": "https://pubmed.ncbi.nlm.nih.gov/23632796" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13751-1", "protein_name": "Laminin subunit beta-3", "gene_name": "LAMB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13751", "url": "https://www.uniprot.org/uniprotkb/Q13751" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23632796", "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": "LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.", "journal": "J. Dent. Res.", "date": "2013", "authors": "Kim J W, Seymen F, Lee K E, Ko J, Yildirim M, Tuna E B, Gencay K, Shin T J, Kyun H K, Simmer J P, Hu J C-C", "reference": { "type": "PubMed", "id": "23958762", "url": "https://pubmed.ncbi.nlm.nih.gov/23958762" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13751-1", "protein_name": "Laminin subunit beta-3", "gene_name": "LAMB3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13751", "url": "https://www.uniprot.org/uniprotkb/Q13751" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23958762", "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", 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down-regulate immunoglobulin and cytokine production by human B lymphocytes.", "journal": "Clinical and diagnostic laboratory immunology", "date": "2005-06", "authors": "Merlo Andrea, Tenca Claudya, Fais Franco, Battini Lorenzo, Ciccone Ermanno, Grossi Carlo E, Saverino Daniele", "reference": { "type": "PubMed", "id": "15939744", "url": "https://pubmed.ncbi.nlm.nih.gov/15939744" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6GTX8-1", "protein_name": "Leukocyte-associated immunoglobulin-like receptor 1", "gene_name": "LAIR1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6GTX8", "url": "https://www.uniprot.org/uniprotkb/Q6GTX8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15939744", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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"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": "Crystal structure and collagen-binding site of immune inhibitory receptor LAIR-1: unexpected implications for collagen binding by platelet receptor GPVI.", "journal": "Blood", "date": "2010", "authors": "Brondijk T Harma C, de Ruiter Talitha, Ballering Joost, Wienk Hans, Lebbink Robert Jan, van Ingen Hugo, Boelens Rolf, Farndale Richard W, Meyaard Linde, Huizinga Eric G", "reference": { "type": "PubMed", "id": "20007810", "url": "https://pubmed.ncbi.nlm.nih.gov/20007810" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6GTX8-1", "protein_name": "Leukocyte-associated immunoglobulin-like receptor 1", "gene_name": "LAIR1", 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"id": "12117417", "url": "https://pubmed.ncbi.nlm.nih.gov/12117417" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHI5-1", "protein_name": "Large neutral amino acids transporter small subunit 2", "gene_name": "SLC7A8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHI5", "url": "https://www.uniprot.org/uniprotkb/Q9UHI5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12117417", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": 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"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": "Identification and functional characterization of a Na(+)-independent large neutral amino acid transporter (LAT2) on ARPE-19 cells.", "journal": "International journal of pharmaceutics", "date": "2004-05-04", "authors": "Gandhi Mohit D, Pal Dhananjay, Mitra Ashim K", "reference": { "type": "PubMed", "id": "15081149", "url": "https://pubmed.ncbi.nlm.nih.gov/15081149" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHI5-1", "protein_name": "Large neutral amino acids transporter small subunit 2", "gene_name": 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols.", "journal": "The Journal of biological chemistry", "date": "2005-05-20", "authors": "Li Sheng, Whorton A Richard", "reference": { "type": "PubMed", "id": "15769744", "url": "https://pubmed.ncbi.nlm.nih.gov/15769744" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHI5-1", "protein_name": "Large neutral amino acids transporter small subunit 2", "gene_name": "SLC7A8", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q01650-1", "protein_name": "Large neutral amino acids transporter small subunit 1", "gene_name": "SLC7A5", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08195-2", "protein_name": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_name": "Human" } ], "species": [ { "name": "Homo 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Chem.", "date": "1994", "authors": "Ryan M C, Tizard R, VanDevanter D R, Carter W G", "reference": { "type": "PubMed", "id": "8077230", "url": "https://pubmed.ncbi.nlm.nih.gov/8077230" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q16787-2", "protein_name": "Laminin subunit alpha-3", "gene_name": "LAMA3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q16787", "url": "https://www.uniprot.org/uniprotkb/Q16787" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8077230", "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", 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"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": [] } ] } ]