[ { "title": "Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.", "journal": "Blood", "date": "1996", "authors": "Basani R B, Vilaire G, Shattil S J, Kolodziej M A, Bennett J S, Poncz M", "reference": { "type": "PubMed", "id": "8704171", "url": "https://pubmed.ncbi.nlm.nih.gov/8704171" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08514-1", "protein_name": "Integrin alpha-IIb", "gene_name": "ITGA2B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprotkb/P08514" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8704171", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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patients.", "journal": "British journal of haematology", "date": "1998", "authors": "Ambo H, Kamata T, Handa M, Kawai Y, Oda A, Murata M, Takada Y, Ikeda Y", "reference": { "type": "PubMed", "id": "9722314", "url": "https://pubmed.ncbi.nlm.nih.gov/9722314" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P08514-1", "protein_name": "Integrin alpha-IIb", "gene_name": "ITGA2B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08514", "url": "https://www.uniprot.org/uniprotkb/P08514" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9722314", "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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acids of the human mitochondrial carnitine/acylcarnitine carrier: insight into the molecular mechanism of transport.", "journal": "Biochimica et biophysica acta", "date": "2010", "authors": "Giangregorio Nicola, Tonazzi Annamaria, Console Lara, Indiveri Cesare, Palmieri Ferdinando", "reference": { "type": "PubMed", "id": "20347717", "url": "https://pubmed.ncbi.nlm.nih.gov/20347717" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43772-1", "protein_name": "Mitochondrial carnitine/acylcarnitine carrier protein", "gene_name": "SLC25A20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprotkb/O43772" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20347717", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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[] } ] }, { "title": "Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications.", "journal": "Biomolecules", "date": "2023-06-15", "authors": "Giangregorio Nicola, Tonazzi Annamaria, Console Lara, Scalise Mariafrancesca, Indiveri Cesare", "reference": { "type": "PubMed", "id": "37371573", "url": "https://pubmed.ncbi.nlm.nih.gov/37371573" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O43772-1", "protein_name": "Mitochondrial carnitine/acylcarnitine carrier protein", "gene_name": "SLC25A20", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprotkb/O43772" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37371573", "abstract": "", "glycosylation": [], 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Annick, De Mas Philippe, Bouche Pierre, Gilbert-Dussardier Brigitte, Arne-Bes Marie-Christine, Carri\u00e8re Jean-Pierre, Journel Hubert, Minot-Myhie Marie-Christine, Guillou Claire, Ghorab Karima, Magy Laurent, Sturtz Franck, Vallat Jean-Michel, Magdelaine Corinne", "reference": { "type": "PubMed", "id": "20008656", "url": "https://pubmed.ncbi.nlm.nih.gov/20008656" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O95140-1", "protein_name": "Mitofusin-2", "gene_name": "MFN2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprotkb/O95140" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20008656", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", 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"ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.", "journal": "Brain : a journal of neurology", "date": "2013", "authors": "Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F", "reference": { "type": "PubMed", "id": "23288328", "url": "https://pubmed.ncbi.nlm.nih.gov/23288328" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A4D126-1", "protein_name": "D-ribitol-5-phosphate cytidylyltransferase", "gene_name": "CRPPA", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A4D126", "url": "https://www.uniprot.org/uniprotkb/A4D126" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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Proteome Res.", "date": "2007", "authors": "Ngai HH, Sit WH, Jiang PP, Thongboonkerd V, Wan JM", "reference": { "type": "PubMed", "id": "17616219", "url": "https://pubmed.ncbi.nlm.nih.gov/17616219" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5T2T1-1", "protein_name": "MAGUK p55 subfamily member 7", "gene_name": "MPP7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5T2T1", "url": "https://www.uniprot.org/uniprotkb/Q5T2T1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17616219", "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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transactivity by DNA damage-induced ISG15 modification.", "journal": "Nature communications", "date": "2016-08-22", "authors": "Park Jong Ho, Yang Seung Wook, Park Jung Mi, Ka Seung Hyeun, Kim Ji-Hoon, Kong Young-Yun, Jeon Young Joo, Seol Jae Hong, Chung Chin Ha", "reference": { "type": "PubMed", "id": "27545325", "url": "https://pubmed.ncbi.nlm.nih.gov/27545325" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P41226-1", "protein_name": "Ubiquitin-like modifier-activating enzyme 7", "gene_name": "UBA7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P41226", "url": "https://www.uniprot.org/uniprotkb/P41226" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27545325", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.", "journal": "Nature", "date": "2013", "authors": "Styrkarsdottir Unnur, Thorleifsson Gudmar, Sulem Patrick, Gudbjartsson Daniel F, Sigurdsson Asgeir, Jonasdottir Aslaug, Jonasdottir Adalbjorg, Oddsson Asmundur, Helgason Agnar, Magnusson Olafur T, Walters G Bragi, Frigge Michael L, Helgadottir Hafdis T, Johannsdottir Hrefna, Bergsteinsdottir Kristin, Ogmundsdottir Margret H, Center Jacqueline R, Nguyen Tuan V, Eisman John A, Christiansen Claus, Steingrimsson Erikur, Jonasson Jon G, Tryggvadottir Laufey, Eyjolfsson Gudmundur I, Theodors Asgeir, Jonsson Thorvaldur, Ingvarsson Thorvaldur, Olafsson Isleifur, Rafnar Thorunn, Kong Augustine, Sigurdsson Gunnar, Masson Gisli, Thorsteinsdottir Unnur, Stefansson Kari", "reference": { "type": "PubMed", "id": 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progress of ovarian cancer via the focal adhesion signaling pathway.", "journal": "Bioengineered", "date": "2021", "authors": "Chen L, Qian J, You Q, Ma J", "reference": { "type": "PubMed", "id": "34724866", "url": "https://pubmed.ncbi.nlm.nih.gov/34724866" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9BT23-1", "protein_name": "LIM domain-containing protein 2", "gene_name": "LIMD2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BT23", "url": "https://www.uniprot.org/uniprotkb/Q9BT23" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34724866", "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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