{"id":"https://openalex.org/W2020995437","doi":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","title":"GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf","display_name":"GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf","publication_year":2010,"publication_date":"2010-03-01","ids":{"openalex":"https://openalex.org/W2020995437","doi":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","mag":"2020995437","pmid":"https://pubmed.ncbi.nlm.nih.gov/20201936","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4739516"},"language":"en","primary_location":{"id":"doi:10.1111/j.1469-1809.2010.00564.x","doi":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","pdf_url":null,"source":{"id":"https://openalex.org/S131700781","display_name":"Annals of Human Genetics","issn_l":"0003-4800","issn":["0003-4800","1469-1809"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4739516","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075112348","display_name":"Mustafa Tekin","orcid":"https://orcid.org/0000-0002-3525-7960","observed_orcids":["https://orcid.org/0000-0002-3525-7960"]},"institutions":[{"id":"https://openalex.org/I145608581","display_name":"University of Miami","ror":"https://ror.org/02dgjyy92","country_code":"US","type":"education","lineage":["https://openalex.org/I145608581"]},{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR","US"],"is_corresponding":true,"raw_author_name":"Mustafa Tekin","raw_affiliation_strings":["The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA. mtekin@med.miami.edu","Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey","The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA. mtekin@med.miami.edu","institution_ids":["https://openalex.org/I145608581"]},{"raw_affiliation_string":"Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]},{"raw_affiliation_string":"The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M. Miller School of Medicine, Miami, Florida 33136, USA","institution_ids":["https://openalex.org/I145608581"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008574649","display_name":"Xia\u2010Juan Xia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I184840846","display_name":"Virginia Commonwealth University","ror":"https://ror.org/02nkdxk79","country_code":"US","type":"education","lineage":["https://openalex.org/I184840846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xia\u2010Juan Xia","raw_affiliation_strings":["Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA","institution_ids":["https://openalex.org/I184840846"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074226171","display_name":"Radnaabazar Erdenetungalag","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Radnaabazar Erdenetungalag","raw_affiliation_strings":["School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111794615","display_name":"Filiz Ba\u015fak Cengiz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Filiz Basak Cengiz","raw_affiliation_strings":["Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044719208","display_name":"Thomas W. White","orcid":"https://orcid.org/0000-0002-3285-7434","observed_orcids":["https://orcid.org/0000-0002-3285-7434"]},"institutions":[{"id":"https://openalex.org/I59553526","display_name":"Stony Brook University","ror":"https://ror.org/05qghxh33","country_code":"US","type":"education","lineage":["https://openalex.org/I59553526"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas W. White","raw_affiliation_strings":["Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY 11794-8661"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY 11794-8661","institution_ids":["https://openalex.org/I59553526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055043812","display_name":"Janchiv Radnaabazar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janchiv Radnaabazar","raw_affiliation_strings":["School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066192096","display_name":"Begzsuren Dangaasuren","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Begzsuren Dangaasuren","raw_affiliation_strings":["School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School for the Deaf, Ulaanbaatar, Mongolia and Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076560687","display_name":"Hakk\u0131 Ta\u015ftan","orcid":"https://orcid.org/0000-0001-9540-2931","observed_orcids":["https://orcid.org/0000-0001-9540-2931"]},"institutions":[{"id":"https://openalex.org/I149218525","display_name":"Ankara University","ror":"https://ror.org/01wntqw50","country_code":"TR","type":"education","lineage":["https://openalex.org/I149218525"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Hakki Tastan","raw_affiliation_strings":["Department of Biology, Ankara University School of Science, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biology, Ankara University School of Science, Ankara, Turkey","institution_ids":["https://openalex.org/I149218525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111927320","display_name":"Walter E. Nance","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I184840846","display_name":"Virginia Commonwealth University","ror":"https://ror.org/02nkdxk79","country_code":"US","type":"education","lineage":["https://openalex.org/I184840846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Walter E. Nance","raw_affiliation_strings":["Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA","institution_ids":["https://openalex.org/I184840846"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010370816","display_name":"Arti Pandya","orcid":"https://orcid.org/0000-0002-8889-0663","observed_orcids":["https://orcid.org/0000-0002-8889-0663"]},"institutions":[{"id":"https://openalex.org/I184840846","display_name":"Virginia Commonwealth University","ror":"https://ror.org/02nkdxk79","country_code":"US","type":"education","lineage":["https://openalex.org/I184840846"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Arti Pandya","raw_affiliation_strings":["Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA","institution_ids":["https://openalex.org/I184840846"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5075112348"],"corresponding_institution_ids":["https://openalex.org/I145608581","https://openalex.org/I149218525"],"apc_list":{"value":3190,"currency":"USD","value_usd":3190},"apc_paid":null,"fwci":2.3559,"has_fulltext":false,"cited_by_count":58,"citation_normalized_percentile":{"value":0.86737064,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"74","issue":"2","first_page":"155","last_page":"164"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9940999746322632,"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":0.9940999746322632,"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":0.0012000000569969416,"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/T10283","display_name":"Hearing Loss and Rehabilitation","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/gjb2","display_name":"GJB2","score":0.8489999771118164},{"id":"https://openalex.org/keywords/connexin-26","display_name":"connexin 26","score":0.9879999756813049},{"id":"https://openalex.org/keywords/complex-alleles","display_name":"complex alleles","score":0.5839999914169312},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6299999952316284},{"id":"https://openalex.org/keywords/assortative-mating","display_name":"assortative mating","score":0.8259999752044678},{"id":"https://openalex.org/keywords/genetic-fitness","display_name":"genetic fitness","score":0.8769999742507935},{"id":"https://openalex.org/keywords/allele-frequency","display_name":"allele frequency","score":0.6000000238418579}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7620455026626587},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7045126557350159},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6822980046272278},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5636329650878906},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.5132958292961121},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5041784048080444},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.428308367729187},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.4265805184841156},{"id":"https://openalex.org/C2777433574","wikidata":"https://www.wikidata.org/wiki/Q744592","display_name":"Assortative mating","level":3,"score":0.41209733486175537},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.2991775870323181},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28916075825691223},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21395254135131836},{"id":"https://openalex.org/C514575182","wikidata":"https://www.wikidata.org/wiki/Q228395","display_name":"Mating","level":2,"score":0.18265676498413086}],"mesh":[{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000072259","descriptor_name":"Connexin 26","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008986","descriptor_name":"Mongolia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008986","descriptor_name":"Mongolia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008986","descriptor_name":"Mongolia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008986","descriptor_name":"Mongolia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017630","descriptor_name":"Connexins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056084","descriptor_name":"Genetic Fitness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056084","descriptor_name":"Genetic Fitness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056084","descriptor_name":"Genetic Fitness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056084","descriptor_name":"Genetic Fitness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1469-1809.2010.00564.x","doi":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1469-1809.2010.00564.x","pdf_url":null,"source":{"id":"https://openalex.org/S131700781","display_name":"Annals of Human Genetics","issn_l":"0003-4800","issn":["0003-4800","1469-1809"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Human Genetics","raw_type":"journal-article"},{"id":"pmid:20201936","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20201936","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4739516","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4739516","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Ann Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4739516","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4739516","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Ann Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8371999859809875,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1087930927","display_name":null,"funder_award_id":"R01 DCO2530","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"},{"id":"https://openalex.org/G2568317432","display_name":"Connexin mutations in deafness","funder_award_id":"R01DC006652","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G2622795517","display_name":"Conference on Stem Cells: Origins, Fate and Functions","funder_award_id":"R13NS042933","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G3119441433","display_name":"GENETIC STUDIES OF NONSYNDROMIC DEAFNESS","funder_award_id":"R01DC002530","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G6436207423","display_name":null,"funder_award_id":"DC006652","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"},{"id":"https://openalex.org/G6890833470","display_name":null,"funder_award_id":"R01 DCG4293","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"}],"funders":[{"id":"https://openalex.org/F4320309936","display_name":"Ankara Universitesi","ror":"https://ror.org/01wntqw50"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"},{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W151092247","https://openalex.org/W1558494600","https://openalex.org/W1623067417","https://openalex.org/W1693445079","https://openalex.org/W1935916792","https://openalex.org/W1963768450","https://openalex.org/W1963799112","https://openalex.org/W1967164346","https://openalex.org/W1971538414","https://openalex.org/W1988964300","https://openalex.org/W1994718834","https://openalex.org/W2019304102","https://openalex.org/W2025886249","https://openalex.org/W2026959629","https://openalex.org/W2027120457","https://openalex.org/W2037458235","https://openalex.org/W2043730073","https://openalex.org/W2043982229","https://openalex.org/W2044923411","https://openalex.org/W2049061884","https://openalex.org/W2050576557","https://openalex.org/W2054280971","https://openalex.org/W2061361740","https://openalex.org/W2061778495","https://openalex.org/W2073375242","https://openalex.org/W2079447324","https://openalex.org/W2082927035","https://openalex.org/W2094343174","https://openalex.org/W2100095605","https://openalex.org/W2114236462","https://openalex.org/W2114929889","https://openalex.org/W2118363436","https://openalex.org/W2131514063","https://openalex.org/W2155946264","https://openalex.org/W2158585306","https://openalex.org/W2163451904","https://openalex.org/W2285245699"],"related_works":["https://openalex.org/W2360086246","https://openalex.org/W2033832908","https://openalex.org/W2367557745","https://openalex.org/W1971538414","https://openalex.org/W2419092819","https://openalex.org/W2382749860","https://openalex.org/W4214714170","https://openalex.org/W2079447324","https://openalex.org/W2375144581","https://openalex.org/W2390319795"],"abstract_inverted_index":{"We":[0,171],"screened":[1],"the":[2,23,28,54,126,141,147,186,193],"GJB2":[3,47,204],"gene":[4],"for":[5,27,200],"mutations":[6,48,66],"in":[7,30,33,51,58,61,111,123,130,154,188,206],"534":[8],"(108":[9],"multiplex":[10],"and":[11,32,76,83,105,115,158,180],"426":[12],"simplex)":[13],"probands":[14,56,114,157],"with":[15,78,125],"non-syndromic":[16],"sensorineural":[17],"deafness,":[18],"who":[19],"were":[20,44,49,67,108],"ascertained":[21],"through":[22],"only":[24],"residential":[25],"school":[26],"deaf":[29,55,113,156,187],"Mongolia,":[31],"217":[34],"hearing":[35,116,159],"controls.":[36,117],"Twenty":[37],"different":[38],"alleles,":[39],"including":[40],"four":[41],"novel":[42],"changes,":[43],"identified.":[45],"Biallelic":[46],"found":[50,172],"4.5%":[52],"of":[53,81,145,150,167,176,185,203],"(8.3%":[57],"multiplex,":[59],"3.5%":[60,82],"simplex).":[62],"The":[63,86,103,118],"most":[64],"common":[65],"c.IVS1":[68,87],"+":[69,88],"1G":[70,89],">":[71,74,90],"A":[72,91],"(c.-3201G":[73],"A)":[75],"c.235delC":[77],"allele":[79,153],"frequencies":[80],"1.5%,":[84],"respectively.":[85],"mutation":[92],"appears":[93],"to":[94,192],"have":[95,136],"diverse":[96],"origins":[97],"based":[98],"on":[99],"associated":[100],"multiple":[101],"haplotypes.":[102],"p.V27I":[104,127],"p.E114G":[106,119],"variants":[107],"frequently":[109],"detected":[110],"both":[112,155],"variant":[120],"was":[121],"always":[122],"cis":[124],"variant.":[128],"Although":[129],"vitro":[131],"experiments":[132],"using":[133],"Xenopus":[134],"oocytes":[135],"suggested":[137],"that":[138],"p.[V27I;E114G]":[139],"disturbs":[140],"gap":[142],"junction":[143],"function":[144],"Cx26,":[146],"equal":[148],"distribution":[149],"this":[151],"complex":[152],"controls":[160],"makes":[161],"it":[162],"a":[163,173],"less":[164],"likely":[165],"cause":[166],"profound":[168],"congenital":[169],"deafness.":[170],"lower":[174,201],"frequency":[175,202],"assortative":[177],"mating":[178],"(37.5%)":[179],"decreased":[181],"genetic":[182],"fitness":[183],"(62%)":[184],"Mongolia":[189],"as":[190],"compared":[191],"western":[194],"populations,":[195],"which":[196],"provides":[197],"an":[198],"explanation":[199],"deafness":[205],"Mongolia.":[207]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":9},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
