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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of the genomic structure of the human vitamin C transporter SVCT1 (SLC23A2).", "journal": "J. Nutr.", "date": "2001", "authors": "Erichsen H C, Eck P, Levine M, Chanock S", "reference": { "type": "PubMed", "id": "11584081", "url": "https://pubmed.ncbi.nlm.nih.gov/11584081" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UHI7-1", "protein_name": "Solute carrier family 23 member 1", "gene_name": "SLC23A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UHI7", "url": "https://www.uniprot.org/uniprotkb/Q9UHI7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11584081", "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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"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": "Effects of functional variants of vitamin C transporter genes on apolipoprotein E E4-associated risk of cognitive decline: The Nakajima study.", "journal": "PloS one", "date": "2021", "authors": "Hayashi K, Noguchi-Shinohara M, Sato T, Hosomichi K, Kannon T, Abe C, Domoto C, Yuki-Nozaki S, Mori A, Horimoto M, Yokogawa M, Sakai K, Iwasa K, Komai K, Ishimiya M, Nakamura H, Ishida N, Suga Y, Ishizaki J, Ishigami A, Tajima A, Yamada M", "reference": { "type": "PubMed", "id": "34780525", "url": "https://pubmed.ncbi.nlm.nih.gov/34780525" }, 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"https://www.omim.org/entry/130070", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "130070", "database": "MIM", "url": "https://www.omim.org/entry/130070" }, { "id": "B4GALT7", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B4GALT7/#!details" }, { "id": "11285", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/11285#disease" }, { "id": "0080738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080738" } ] }, { "disease_id": "DOID:0080575", "recommended_name": { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome B3GAT3 type", "description": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome, B3GAT3 type", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen-like syndrome, B3GAT3 type", "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. 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clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome, B3GAT3 type", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen-like syndrome, B3GAT3 type", "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "JDSCD", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen syndrome, autosomal 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clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12." }, "synonyms": [ { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "DOID:0080575", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080575", "name": "Larsen-like syndrome, B3GAT3 type", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen-like syndrome, B3GAT3 type", "description": "Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported." }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "JDSCD", "description": "" }, { "id": "MONDO:0009511", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511", "name": "Larsen syndrome, autosomal recessive", "description": "" }, { "id": "MIM:245600", "resource": "MIM", "url": "https://www.omim.org/entry/245600", "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects", "description": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009511", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009511" }, { "id": "245600", "database": "MIM", "url": "https://www.omim.org/entry/245600" }, { "id": "B3GAT3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B3GAT3/#!details" }, { "id": "26229", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/26229#disease" }, { "id": "0080575", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080575" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "New Clues in the Malignant Progression of Glioblastoma: Can the Thioredoxin System Play a Role?", "journal": "Turkish neurosurgery", "date": "2018", "authors": "Erdi F, Kaya B, Esen H, Karatas Y, Findik S, Keskin F, Feyzioglu B, Kalkan E", "reference": { "type": "PubMed", "id": "28345125", "url": "https://pubmed.ncbi.nlm.nih.gov/28345125" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZ81-1", "protein_name": "Proline-rich protein 13", "gene_name": "PRR13", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZ81", "url": "https://www.uniprot.org/uniprotkb/Q9NZ81" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28345125", "abstract": "", "glycosylation": [], 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Genet.", "date": "1993", "authors": "Bey F, Silva Pereira I, Coux O, Viegas-P\u00e9quignot E, Recillas Targa F, Nothwang H G, Dutrillaux B, Scherrer K", "reference": { "type": "PubMed", "id": "7681138", "url": "https://pubmed.ncbi.nlm.nih.gov/7681138" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P60900-1", "protein_name": "Proteasome subunit alpha type-6", "gene_name": "PSMA6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P60900", "url": "https://www.uniprot.org/uniprotkb/P60900" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7681138", "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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"authors": "Baird Lydia, Cannon Ping, Kandel Manju, Nguyen Tuong-Vi, Nguyen Anna, Wong Georgia, Murphy C\u00edara, Brownfoot Fiona C, Kadife Elif, Hannan Natalie J, Tong Stephen, Bartho Lucy A, Kaitu'u-Lino Tu'uhevaha J", "reference": { "type": "PubMed", "id": "37464405", "url": "https://pubmed.ncbi.nlm.nih.gov/37464405" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86TG7-1", "protein_name": "Retrotransposon-derived protein PEG10", "gene_name": "PEG10", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86TG7", "url": "https://www.uniprot.org/uniprotkb/Q86TG7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37464405", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Yi xue ban = Journal of Central South University. Medical sciences", "date": "2023-06-28", "authors": "Shi Rui, DU Wanqing, He Yanjuan, Hu Jian, Yu Han, Zhou Wen, Guo Jiaojiao, Feng Xiangling", "reference": { "type": "PubMed", "id": "37587064", "url": "https://pubmed.ncbi.nlm.nih.gov/37587064" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P26640-1", "protein_name": "Valine--tRNA ligase", "gene_name": "VARS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P26640", "url": "https://www.uniprot.org/uniprotkb/P26640" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37587064", "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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Cell. 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