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with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.", "journal": "Human molecular genetics", "date": "2023-07-04", "authors": "Teunissen Maria W A, Lewerissa Elly, van Hugte Eline J H, Wang Shan, Ockeloen Charlotte W, Koolen David A, Pfundt Rolph, Marcelis Carlo L M, Brilstra Eva, Howe Jennifer L, Scherer Stephen W, Le Guillou Xavier, Bilan Fr\u00e9d\u00e9ric, Primiano Michelle, Roohi Jasmin, Piton Amelie, de Saint Martin Anne, Baer Sarah, Seiffert Simone, Platzer Konrad, Jamra Rami Abou, Syrbe Steffen, Doering Jan H, Lakhani Shenela, Nangia Srishti, Gilissen Christian, Vermeulen R Jeroen, Rouhl Rob P W, Brunner Han G, Willemsen Marjolein H, Nadif Kasri Nael", "reference": { "type": "PubMed", "id": "37195288", "url": "https://pubmed.ncbi.nlm.nih.gov/37195288" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q01484-4", "protein_name": "Ankyrin-2", "gene_name": "ANK2", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.", "journal": "Human mutation", "date": "2012", "authors": "Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS", "reference": { "type": "PubMed", "id": "22865819", "url": "https://pubmed.ncbi.nlm.nih.gov/22865819" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12955", "url": "https://www.uniprot.org/uniprotkb/Q12955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22865819", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Lainez S, Dimke H, de Graaf MJ, Hoenderop JG, Bindels RJ", "reference": { "type": "PubMed", "id": "23903368", "url": "https://pubmed.ncbi.nlm.nih.gov/23903368" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "G5E8K5-1", "protein_name": "Ankyrin-3", "gene_name": "Ank3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "P16388-1", "protein_name": "Potassium voltage-gated channel subfamily A member 1", "gene_name": "Kcna1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q09470-1", "protein_name": "Potassium voltage-gated channel subfamily A member 1", "gene_name": "KCNA1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q12955", "url": "https://www.uniprot.org/uniprotkb/Q12955" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens 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Neurochem.", "date": "2015", "authors": "Papandreou MJ, Vacher H, Fache MP, Klingler E, Rueda-Boroni F, Ferracci G, Debarnot C, Piperoglou C, Garcia Del Cano G, Goutebroze L, Dargent B", "reference": { "type": "PubMed", "id": "25950943", "url": "https://pubmed.ncbi.nlm.nih.gov/25950943" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q12955-3", "protein_name": "Ankyrin-3", "gene_name": "ANK3", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPB3-1", "protein_name": "Schwannomin-interacting protein 1", "gene_name": "SCHIP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0DPB4-1", "protein_name": "Schwannomin-interacting protein 1", "gene_name": "Schip1", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "B3KU38-1", "protein_name": "IQCJ-SCHIP1 readthrough transcript protein", "gene_name": "IQCJ-SCHIP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "A0A088MLT8-1", "protein_name": "IQCJ-SCHIP1 readthrough transcript protein", "gene_name": 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Bhattacharya Rohit, White James, Zhang Theresa, Adleff Vilmos, Phallen Jillian, Wali Neha, Hruban Carolyn, Guthrie Violeta B, Rodgers Kristen, Naidoo Jarushka, Kang Hyunseok, Sharfman William, Georgiades Christos, Verde Franco, Illei Peter, Li Qing Kay, Gabrielson Edward, Brock Malcolm V, Zahnow Cynthia A, Baylin Stephen B, Scharpf Robert B, Brahmer Julie R, Karchin Rachel, Pardoll Drew M, Velculescu Victor E", "reference": { "type": "PubMed", "id": "28031159", "url": "https://pubmed.ncbi.nlm.nih.gov/28031159" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UB98-1", "protein_name": "Ankyrin repeat domain-containing protein 12", "gene_name": "ANKRD12", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8NG08-1", "protein_name": "DNA helicase B", "gene_name": "HELB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UB98", "url": "https://www.uniprot.org/uniprotkb/Q6UB98" } 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"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": "Silencing of ANKRD12 circRNA induces molecular and functional changes associated with invasive phenotypes.", "journal": "BMC cancer", "date": "2019", "authors": "Karedath T, Ahmed I, Al Ameri W, Al-Dasim FM, Andrews SS, Samuel S, Al-Azwani IK, Mohamoud YA, Rafii A, Malek JA", "reference": { "type": "PubMed", "id": "31185953", "url": "https://pubmed.ncbi.nlm.nih.gov/31185953" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6UB98-1", "protein_name": "Ankyrin repeat domain-containing protein 12", "gene_name": "ANKRD12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6UB98", "url": "https://www.uniprot.org/uniprotkb/Q6UB98" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.31185953", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Zarelli VE, Dawid IB", "reference": { "type": "PubMed", "id": "23382213", "url": "https://pubmed.ncbi.nlm.nih.gov/23382213" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q6VUC0-1", "protein_name": "Transcription factor AP-2-epsilon", "gene_name": "TFAP2E", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92481-1", "protein_name": "Transcription factor AP-2-beta", "gene_name": "TFAP2B", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q92754-1", "protein_name": "Transcription factor AP-2 gamma", "gene_name": "TFAP2C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6DC02-1", 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Cell", "date": "2002", "authors": "Panaretou B, Siligardi G, Meyer P, Maloney A, Sullivan JK, Singh S, Millson SH, Clarke PA, Naaby-Hansen S, Stein R, Cramer R, Mollapour M, Workman P, Piper PW, Pearl LH, Prodromou C", "reference": { "type": "PubMed", "id": "12504007", "url": "https://pubmed.ncbi.nlm.nih.gov/12504007" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q719I0-1", "protein_name": "Putative activator of 90 kDa heat shock protein ATPase homolog 2", "gene_name": "AHSA2P", "tax_name": "Human" }, { "uniprot_canonical_ac": "P53834-1", "protein_name": "Hsp90 co-chaperone HCH1", "gene_name": "HCH1", "tax_name": "Baker's yeast" }, { "uniprot_canonical_ac": "O95433-1", "protein_name": "Activator of 90 kDa heat shock protein ATPase homolog 1", "gene_name": "AHSA1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02829-1", "protein_name": "ATP-dependent molecular chaperone HSP82", "gene_name": "HSP82", "tax_name": "Baker's yeast" }, { 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the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.", "journal": "American journal of human genetics", "date": "2010", "authors": "Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B", "reference": { "type": "PubMed", "id": "20096397", "url": "https://pubmed.ncbi.nlm.nih.gov/20096397" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q75V66-1", "protein_name": "Anoctamin-5", "gene_name": "ANO5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q75V66", "url": "https://www.uniprot.org/uniprotkb/Q75V66" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.20096397", "abstract": "", "glycosylation": [], 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.", "journal": "Nature genetics", "date": "2000", "authors": "Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD", "reference": { "type": "PubMed", "id": "10802654", "url": "https://pubmed.ncbi.nlm.nih.gov/10802654" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92481-1", "protein_name": "Transcription factor AP-2-beta", "gene_name": "TFAP2B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92481", "url": "https://www.uniprot.org/uniprotkb/Q92481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10802654", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": 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