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Retina", "date": "2023-06-17", "authors": "Daich Varela Malena, Duignan Emma S, De Silva Samantha R, Ba-Abbad Rola, Fujinami-Yokokawa Yu, Leo Shaun, Fujinami Kaoru, Mahroo Omar A, Robson Anthony G, Webster Andrew R, Michaelides Michel", "reference": { "type": "PubMed", "id": "37331655", "url": "https://pubmed.ncbi.nlm.nih.gov/37331655" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q49MI3-1", "protein_name": "Ceramide kinase-like protein", "gene_name": "CERKL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q49MI3", "url": "https://www.uniprot.org/uniprotkb/Q49MI3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37331655", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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Med. Genet.", "date": "2017", "authors": "Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R", "reference": { "type": "PubMed", "id": "27627988", "url": "https://pubmed.ncbi.nlm.nih.gov/27627988" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTW2-1", "protein_name": "Centrosomal protein of 78 kDa", "gene_name": "CEP78", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTW2", "url": "https://www.uniprot.org/uniprotkb/Q5JTW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.27627988", "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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[] } ] }, { "title": "Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss.", "journal": "Front. Cell Dev. Biol.", "date": "2021", "authors": "Ascari Giulia, Rendtorff Nanna D, De Bruyne Marieke, De Zaeytijd Julie, Van Lint Michel, Bauwens Miriam, Van Heetvelde Mattias, Arno Gavin, Jacob Julie, Creytens David, Van Dorpe Jo, Van Laethem Thalia, Rosseel Toon, De Pooter Tim, De Rijk Peter, De Coster Wouter, Menten Bj\u00f6rn, Rey Alfredo Due\u00f1as, Strazisar Mojca, Bertelsen Mette, Tranebjaerg Lisbeth, De Baere Elfride", "reference": { "type": "PubMed", "id": "33968938", "url": "https://pubmed.ncbi.nlm.nih.gov/33968938" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTW2-1", "protein_name": "Centrosomal protein of 78 kDa", "gene_name": "CEP78", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTW2", "url": "https://www.uniprot.org/uniprotkb/Q5JTW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": 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with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.", "journal": "Ophthalmic Genet.", "date": "2022", "authors": "Lahteenoja L, Hakli S, Tuupanen S, Kuismin O, Palosaari T, Rahikkala E, Falck A", "reference": { "type": "PubMed", "id": "35240912", "url": "https://pubmed.ncbi.nlm.nih.gov/35240912" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q5JTW2-1", "protein_name": "Centrosomal protein of 78 kDa", "gene_name": "CEP78", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5JTW2", "url": "https://www.uniprot.org/uniprotkb/Q5JTW2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35240912", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Biol. Chem.", "date": "2002", "authors": "Zhang Songwen, Cai Mingmei, Zhang Si, Xu Songli, Chen She, Chen Xiaoning, Chen Chun, Gu Jianxin", "reference": { "type": "PubMed", "id": "12082095", "url": "https://pubmed.ncbi.nlm.nih.gov/12082095" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P30281-1", "protein_name": "G1/S-specific cyclin-D3", "gene_name": "CCND3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P21127-1", "protein_name": "Cyclin-dependent kinase 11B", "gene_name": "CDK11B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQ88-1", "protein_name": "Cyclin-dependent kinase 11A", "gene_name": "CDK11A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30281", "url": "https://www.uniprot.org/uniprotkb/P30281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12082095", "abstract": "", 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BD, Brooks HB, Campbell RM, Considine E, Dempsey JA, Faul MM, Ogg C, Patel B, Schultz RM, Spencer CD, Teicher B, Watkins SA", "reference": { "type": "PubMed", "id": "12747775", "url": "https://pubmed.ncbi.nlm.nih.gov/12747775" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P30281-1", "protein_name": "G1/S-specific cyclin-D3", "gene_name": "CCND3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P24385-1", "protein_name": "G1/S-specific cyclin-D1", "gene_name": "CCND1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P11802-1", "protein_name": "Cyclin-dependent kinase 4", "gene_name": "CDK4", "tax_name": "Human" }, { "uniprot_canonical_ac": "P30279-1", "protein_name": "G1/S-specific cyclin-D2", "gene_name": "CCND2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q00534-1", "protein_name": "Cyclin-dependent kinase 6", "gene_name": "CDK6", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": 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characterization of human cyclin D3, a cDNA closely related in sequence to the PRAD1/cyclin D1 proto-oncogene.", "journal": "J. Biol. Chem.", "date": "1992", "authors": "Motokura T, Keyomarsi K, Kronenberg H M, Arnold A", "reference": { "type": "PubMed", "id": "1383201", "url": "https://pubmed.ncbi.nlm.nih.gov/1383201" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P30281-1", "protein_name": "G1/S-specific cyclin-D3", "gene_name": "CCND3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30281", "url": "https://www.uniprot.org/uniprotkb/P30281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1383201", "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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"protein_name": "G1/S-specific cyclin-D2", "gene_name": "CCND2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30281", "url": "https://www.uniprot.org/uniprotkb/P30281" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1386335", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "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 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lymphoid tissue lymphoma with t(11;18).(q21;q21).", "journal": "Blood", "date": "1999", "authors": "Suzuki H, Motegi M, Akagi T, Hosokawa Y, Seto M", "reference": { "type": "PubMed", "id": "10610122", "url": "https://pubmed.ncbi.nlm.nih.gov/10610122" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UDY8-1", "protein_name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1", "gene_name": "MALT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UDY8", "url": "https://www.uniprot.org/uniprotkb/Q9UDY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10610122", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": 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J. Pathol.", "date": "2000", "authors": "Motegi M, Yonezumi M, Suzuki H, Suzuki R, Hosokawa Y, Hosaka S, Kodera Y, Morishima Y, Nakamura S, Seto M", "reference": { "type": "PubMed", "id": "10702396", "url": "https://pubmed.ncbi.nlm.nih.gov/10702396" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UDY8-1", "protein_name": "Mucosa-associated lymphoid tissue lymphoma translocation protein 1", "gene_name": "MALT1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UDY8", "url": "https://www.uniprot.org/uniprotkb/Q9UDY8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10702396", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Expression, regulation, and function of the membranes of the SERCA3 family.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Martin V, Bredoux R, Corvazier E, Van Gorp R, Kovacs T, Gelebart P, Enouf J", "reference": { "type": "PubMed", "id": "11956212", "url": "https://pubmed.ncbi.nlm.nih.gov/11956212" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q93084-2", "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "gene_name": "ATP2A3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93084", "url": "https://www.uniprot.org/uniprotkb/Q93084" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11956212", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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