{"id":"https://openalex.org/W2736062503","doi":"https://doi.org/10.1134/s1022795417030103","title":"Analysis of GJB6 (\u0421x30) and GJB3 (\u0421x31) genes in deaf patients with monoallelic mutations in GJB2 (\u0421x26) gene in the Sakha Republic (Yakutia)","display_name":"Analysis of GJB6 (\u0421x30) and GJB3 (\u0421x31) genes in deaf patients with monoallelic mutations in GJB2 (\u0421x26) gene in the Sakha Republic (Yakutia)","publication_year":2017,"publication_date":"2017-06-01","ids":{"openalex":"https://openalex.org/W2736062503","doi":"https://doi.org/10.1134/s1022795417030103","mag":"2736062503"},"language":"en","primary_location":{"id":"doi:10.1134/s1022795417030103","doi":"https://doi.org/10.1134/s1022795417030103","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s1022795417030103","pdf_url":null,"source":{"id":"https://openalex.org/S96120751","display_name":"Russian Journal of Genetics","issn_l":"1022-7954","issn":["1022-7954","1608-3369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320267","host_organization_name":"Pleiades Publishing","host_organization_lineage":["https://openalex.org/P4310320267","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Pleiades Publishing","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Journal of Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5054889296","display_name":"\u0412.\u0413. \u041f\u0448\u0435\u043d\u043d\u0438\u043a\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0001-6866-9462","observed_orcids":["https://orcid.org/0000-0001-6866-9462"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]},{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"V. G. Pshennikova","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]},{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078940728","display_name":"\u0411\u0430\u0440\u0430\u0448\u043a\u043e\u0432 \u041d\u0438\u043a\u043e\u043b\u0430\u0439 \u0410\u043b\u0435\u043a\u0441\u0435\u0435\u0432\u0438\u0447","orcid":"https://orcid.org/0000-0002-6984-7934","observed_orcids":["https://orcid.org/0000-0002-6984-7934"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]},{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N. A. Barashkov","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]},{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111247528","display_name":"Aisen V. Solovyev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]},{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"A. V. Solovyev","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]},{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091810531","display_name":"Georgii P. Romanov","orcid":"https://orcid.org/0000-0002-2936-5818","observed_orcids":["https://orcid.org/0000-0002-2936-5818"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]},{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"G. P. Romanov","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]},{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050601810","display_name":"Egor E. Diakonov","orcid":"https://orcid.org/0000-0002-5190-4531","observed_orcids":["https://orcid.org/0000-0002-5190-4531"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"E. E. Diakonov","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043412583","display_name":"Nikolay N. Sazonov","orcid":"https://orcid.org/0000-0002-0748-199X","observed_orcids":["https://orcid.org/0000-0002-0748-199X"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"N. N. Sazonov","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014182458","display_name":"Igor V. Morozov","orcid":"https://orcid.org/0000-0002-0307-4203","observed_orcids":["https://orcid.org/0000-0002-0307-4203"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I188973947","display_name":"Novosibirsk State University","ror":"https://ror.org/04t2ss102","country_code":"RU","type":"education","lineage":["https://openalex.org/I188973947"]},{"id":"https://openalex.org/I4210091979","display_name":"Institute of Chemical Biology and Fundamental Medicine","ror":"https://ror.org/00gmz2d02","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210091979","https://openalex.org/I4210129690"]},{"id":"https://openalex.org/I4210127387","display_name":"Siberian Branch of the Russian Academy of Sciences","ror":"https://ror.org/02frkq021","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210127387"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"I. V. Morozov","raw_affiliation_strings":["Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Genomics Core Facility, Novosibirsk, 630090, Russia","National Research University Novosibirsk State University, Novosibirsk, 630090, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Genomics Core Facility, Novosibirsk, 630090, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210091979","https://openalex.org/I4210127387"]},{"raw_affiliation_string":"National Research University Novosibirsk State University, Novosibirsk, 630090, Russia","institution_ids":["https://openalex.org/I188973947"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103279847","display_name":"Alexander A. Bondar","orcid":"https://orcid.org/0000-0001-9181-0487","observed_orcids":["https://orcid.org/0000-0001-9181-0487"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I4210091979","display_name":"Institute of Chemical Biology and Fundamental Medicine","ror":"https://ror.org/00gmz2d02","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210091979","https://openalex.org/I4210129690"]},{"id":"https://openalex.org/I4210127387","display_name":"Siberian Branch of the Russian Academy of Sciences","ror":"https://ror.org/02frkq021","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210127387"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"A. A. Bondar","raw_affiliation_strings":["Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Genomics Core Facility, Novosibirsk, 630090, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Chemical Biology and Fundamental Medicine, Siberian Branch, Russian Academy of Sciences, Genomics Core Facility, Novosibirsk, 630090, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210091979","https://openalex.org/I4210127387"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019652239","display_name":"Olga L. Posukh","orcid":"https://orcid.org/0000-0003-1352-3591","observed_orcids":["https://orcid.org/0000-0003-1352-3591"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I188973947","display_name":"Novosibirsk State University","ror":"https://ror.org/04t2ss102","country_code":"RU","type":"education","lineage":["https://openalex.org/I188973947"]},{"id":"https://openalex.org/I4210116466","display_name":"Institute of Cytology and Genetics","ror":"https://ror.org/0277xgb12","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I188973947","https://openalex.org/I4210116466","https://openalex.org/I4210127387","https://openalex.org/I4210129690"]},{"id":"https://openalex.org/I4210127387","display_name":"Siberian Branch of the Russian Academy of Sciences","ror":"https://ror.org/02frkq021","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210127387"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"O. L. Posukh","raw_affiliation_strings":["Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia","National Research University Novosibirsk State University, Novosibirsk, 630090, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences, Novosibirsk, 630090, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210116466","https://openalex.org/I4210127387"]},{"raw_affiliation_string":"National Research University Novosibirsk State University, Novosibirsk, 630090, Russia","institution_ids":["https://openalex.org/I188973947"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076805339","display_name":"Lilya Useinovna Dzhemileva","orcid":"https://orcid.org/0000-0003-3315-4746","observed_orcids":["https://orcid.org/0000-0003-3315-4746"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I4210112273","display_name":"Institute of Biochemistry and Genetics of Ufa Scientific Centre","ror":"https://ror.org/02a9vnt59","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210112273","https://openalex.org/I4210129690"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"L. U. Dzhemileva","raw_affiliation_strings":["Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, 450054, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, 450054, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210112273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058282202","display_name":"\u042d. \u041a. \u0425\u0443\u0441\u043d\u0443\u0442\u0434\u0438\u043d\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0003-2987-3334","observed_orcids":["https://orcid.org/0000-0003-2987-3334","https://orcid.org/0000-0002-3438-6007"]},"institutions":[{"id":"https://openalex.org/I1313323035","display_name":"Russian Academy of Sciences","ror":"https://ror.org/05qrfxd25","country_code":"RU","type":"government","lineage":["https://openalex.org/I1313323035"]},{"id":"https://openalex.org/I138958963","display_name":"Bashkir State University","ror":"https://ror.org/04gr31p94","country_code":"RU","type":"education","lineage":["https://openalex.org/I138958963","https://openalex.org/I4387155162"]},{"id":"https://openalex.org/I4210112273","display_name":"Institute of Biochemistry and Genetics of Ufa Scientific Centre","ror":"https://ror.org/02a9vnt59","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210112273","https://openalex.org/I4210129690"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"E. K. Khusnutdinova","raw_affiliation_strings":["Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, 450076, Russia","Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, 450054, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, 450076, Russia","institution_ids":["https://openalex.org/I138958963"]},{"raw_affiliation_string":"Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, 450054, Russia","institution_ids":["https://openalex.org/I1313323035","https://openalex.org/I4210112273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077169449","display_name":"\u0422\u043e\u043c\u0441\u043a\u0438\u0439 \u041c\u0438\u0445\u0430\u0438\u043b \u0418\u043d\u043d\u043e\u043a\u0435\u043d\u0442\u044c\u0435\u0432\u0438\u0447","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"M. I. Tomsky","raw_affiliation_strings":["Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5055313586","display_name":"\u0421\u0430\u0440\u0434\u0430\u043d\u0430 \u0410\u0440\u043a\u0430\u0434\u044c\u0435\u0432\u043d\u0430 \u0424\u0435\u0434\u043e\u0440\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-6952-3868","observed_orcids":["https://orcid.org/0000-0002-6952-3868","https://orcid.org/0000-0002-6984-7934"]},"institutions":[{"id":"https://openalex.org/I131550537","display_name":"North-Eastern Federal University","ror":"https://ror.org/02p6aa271","country_code":"RU","type":"education","lineage":["https://openalex.org/I131550537"]},{"id":"https://openalex.org/I4210158007","display_name":"Yakut Scientific Research Institute of Agriculture","ror":"https://ror.org/05gga8159","country_code":"RU","type":"facility","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210158007","https://openalex.org/I4210167168"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"S. A. Fedorova","raw_affiliation_strings":["Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ammosov Institute of Natural Sciences, North-Eastern Federal University, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I131550537"]},{"raw_affiliation_string":"Yakut Scientific Center of \u0421omplex \u041cedical \u0420roblems, Yakutsk, 677010, Russia","institution_ids":["https://openalex.org/I4210158007"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5054889296"],"corresponding_institution_ids":["https://openalex.org/I131550537","https://openalex.org/I4210158007"],"apc_list":null,"apc_paid":null,"fwci":0.8143,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.65022936,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"53","issue":"6","first_page":"688","last_page":"697"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9711999893188477,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11480","display_name":"Connexins and lens biology","score":0.021400000900030136,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cis-regulatory-elements","display_name":"cis-regulatory elements","score":0.6290000081062317},{"id":"https://openalex.org/keywords/nonsynonymous-substitutions","display_name":"nonsynonymous substitutions","score":0.9010000228881836},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.5049999952316284},{"id":"https://openalex.org/keywords/yakutia","display_name":"Yakutia","score":0.6460000276565552}],"concepts":[{"id":"https://openalex.org/C149904235","wikidata":"https://www.wikidata.org/wiki/Q7049620","display_name":"Nonsynonymous substitution","level":4,"score":0.9102383852005005},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8093996047973633},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7292165160179138},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.7065221667289734},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6644858717918396},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.575873613357544},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5735617876052856},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4620392322540283},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.4206395745277405},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.08511200547218323},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.07256478071212769},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.05052238702774048}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1134/s1022795417030103","doi":"https://doi.org/10.1134/s1022795417030103","is_oa":false,"landing_page_url":"https://doi.org/10.1134/s1022795417030103","pdf_url":null,"source":{"id":"https://openalex.org/S96120751","display_name":"Russian Journal of Genetics","issn_l":"1022-7954","issn":["1022-7954","1608-3369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320267","host_organization_name":"Pleiades Publishing","host_organization_lineage":["https://openalex.org/P4310320267","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Pleiades Publishing","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Russian Journal of Genetics","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1971538414","https://openalex.org/W1980740976","https://openalex.org/W1980798562","https://openalex.org/W1981750477","https://openalex.org/W1991259792","https://openalex.org/W2003837366","https://openalex.org/W2005504872","https://openalex.org/W2011355532","https://openalex.org/W2012034410","https://openalex.org/W2023782716","https://openalex.org/W2024405748","https://openalex.org/W2030167054","https://openalex.org/W2042447492","https://openalex.org/W2043982229","https://openalex.org/W2045791858","https://openalex.org/W2059145105","https://openalex.org/W2061778495","https://openalex.org/W2066984971","https://openalex.org/W2068592326","https://openalex.org/W2069408530","https://openalex.org/W2075513227","https://openalex.org/W2080097561","https://openalex.org/W2083725317","https://openalex.org/W2090678593","https://openalex.org/W2119744081","https://openalex.org/W2127330929","https://openalex.org/W2134083748","https://openalex.org/W2134206551","https://openalex.org/W2138356084","https://openalex.org/W2170939123","https://openalex.org/W2396983399","https://openalex.org/W2474604191","https://openalex.org/W4210347168"],"related_works":["https://openalex.org/W2809469032","https://openalex.org/W1987158791","https://openalex.org/W2726008683","https://openalex.org/W2080910389","https://openalex.org/W2134083748","https://openalex.org/W2066021184","https://openalex.org/W184834862","https://openalex.org/W1969164058","https://openalex.org/W2419092819","https://openalex.org/W2948771494"],"abstract_inverted_index":{"\u0422he":[0],"DNA":[1,96],"testing":[2],"of":[3,33,42,57,73,76,103,136,203,206,212,219,257],"autosomal":[4],"recessive":[5,21,244],"deafness":[6],"type":[7],"1A":[8],"(DFNB1A,":[9],"MIM":[10],"220290)":[11],"is":[12,29],"complicated":[13],"when":[14],"deaf":[15],"patients":[16,36,80,105,143],"have":[17,48,172,178],"only":[18,88,225],"monoallelic":[19,107,146],"(heterozygous)":[20],"mutations":[22,44,89,116,147,258],"in":[23,52,60,79,90,117,141,149,210,215,224,240,259,264,268],"the":[24,49,91,95,104,113,133,220,232],"GJB2":[25,43,58,92,108,137,145,238,248],"(\u0421\u044526)":[26],"gene":[27,138],"that":[28],"uninformative":[30,99],"for":[31,87,100,115,201],"establishment":[32],"diagnosis.":[34],"Such":[35],"may":[37],"be":[38],"\u201crandom\u201d":[39],"heterozygous":[40],"carriers":[41],"as":[45,47],"well":[46],"mutant":[50],"allele":[51],"a":[53,243],"cis":[54],"-regulatory":[55],"region":[56,135],"gene,":[59,93],"element":[61],"genes":[62,118,155,260],"encoding":[63],"other":[64],"connexins:":[65],"GJB6":[66,121,126,130,164,188,235,261],"(\u0421\u044530)":[67],"or":[68],"GJB3":[69,119,170,194,263],"(\u0421\u044531).":[70],"Previous":[71],"studies":[72],"genetic":[74],"causes":[75],"hearing":[77,152,213,265],"loss":[78,214,266],"from":[81],"Yakutia":[82],"were":[83],"directed":[84],"to":[85,132],"search":[86,114],"and":[94,120,122,128,148,166,181,190,262],"diagnostics":[97],"was":[98,139,222,229],"9.7%":[101],"(38/393)":[102],"with":[106,144,242],"mutations.":[109],"In":[110,250],"this":[111],"work":[112],"two":[123,158,182],"deletions":[124],"\u0441.del(":[125,129,234],"-D13S1830)":[127,236],"-D13S1854)":[131],"cis-regulatory":[134],"conducted":[140],"35":[142],"104":[150],"normal":[151],"individuals.":[153],"The":[154],"studied":[156,216],"are":[157,199],"synonymous":[159],"substitution":[160,184],"c.489G>A":[161],"(\u0440.Leu163Leu)":[162],"(":[163,169,187,193,237,247],")":[165,171,189,239],"c.357C>T":[167],"(\u0440.Asn119Asn)":[168],"been":[173],"found,":[174],"probably":[175],"do":[176],"not":[177],"clinical":[179],"significance,":[180],"nonsynonymous":[183,208],"c.301G>A":[185],"(p.Glu101Lys)":[186],"\u0441.580G>A":[191],"(p.Ala194Thr)":[192],").":[195,249],"Additional":[196],"experimental":[197],"evidences":[198],"needed":[200],"confirmation":[202],"pathogenic":[204],"significance":[205],"detected":[207],"substitutions":[209],"development":[211],"patients.":[217],"Diagnosis":[218],"DFNB1A":[221],"confirmed":[223],"one":[226],"patient,":[227],"who":[228],"discovered":[230],"by":[231],"deletion":[233],"combination":[241],"mutation":[245],"\u0441.35delG":[246],"general,":[251],"our":[252],"results":[253],"indicate":[254],"low":[255],"contribution":[256],"etiology":[267],"Yakutia.":[269]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2017-07-21T00:00:00"}