{"id":"https://openalex.org/W2105220668","doi":"https://doi.org/10.1073/pnas.102091699","title":"From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30","display_name":"From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30","publication_year":2002,"publication_date":"2002-05-28","ids":{"openalex":"https://openalex.org/W2105220668","doi":"https://doi.org/10.1073/pnas.102091699","mag":"2105220668","pmid":"https://pubmed.ncbi.nlm.nih.gov/12032315","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/124268"},"language":"en","primary_location":{"id":"doi:10.1073/pnas.102091699","doi":"https://doi.org/10.1073/pnas.102091699","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.102091699","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/124268","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083207109","display_name":"Tom Walsh","orcid":"https://orcid.org/0000-0002-8875-0310","observed_orcids":["https://orcid.org/0000-0002-8875-0310","https://orcid.org/0000-0001-6008-7521"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Tom Walsh","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067870957","display_name":"Vanessa Walsh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Vanessa Walsh","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012778267","display_name":"Sarah Vreugde","orcid":"https://orcid.org/0000-0003-4719-9785","observed_orcids":["https://orcid.org/0000-0003-4719-9785"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Sarah Vreugde","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008586629","display_name":"Ronna P. Hertzano","orcid":"https://orcid.org/0000-0002-8093-6567","observed_orcids":["https://orcid.org/0000-0002-8093-6567"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Ronna Hertzano","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001035421","display_name":"Hashem Shahin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Hashem Shahin","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085196925","display_name":"Smadar Haika","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Smadar Haika","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081676510","display_name":"Ming K. Lee","orcid":"https://orcid.org/0000-0002-4529-9259","observed_orcids":["https://orcid.org/0000-0002-4529-9259"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Ming K. Lee","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063658778","display_name":"Moien N Kanaan","orcid":"https://orcid.org/0000-0002-3227-4685","observed_orcids":["https://orcid.org/0000-0002-3227-4685"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Moien Kanaan","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049132398","display_name":"Mary\u2010Claire King","orcid":"https://orcid.org/0000-0001-9426-1743","observed_orcids":["https://orcid.org/0000-0001-9426-1743"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Mary-Claire King","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003471479","display_name":"Karen B. Avraham","orcid":"https://orcid.org/0000-0002-4913-251X","observed_orcids":["https://orcid.org/0000-0002-4913-251X"]},"institutions":[{"id":"https://openalex.org/I158239267","display_name":"Bethlehem University","ror":"https://ror.org/047cjg072","country_code":"PS","type":"education","lineage":["https://openalex.org/I158239267"]},{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I201448701","display_name":"University of Washington","ror":"https://ror.org/00cvxb145","country_code":"US","type":"education","lineage":["https://openalex.org/I201448701"]}],"countries":["IL","PS","US"],"is_corresponding":false,"raw_author_name":"Karen B. Avraham","raw_affiliation_strings":["Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine and Genome Sciences, University of Washington, Seattle, WA 98195-7720; Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; and Department of Life Sciences, Bethlehem University, Bethlehem, Palestinian Authority","institution_ids":["https://openalex.org/I158239267","https://openalex.org/I16391192","https://openalex.org/I201448701"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.2747,"has_fulltext":false,"cited_by_count":253,"citation_normalized_percentile":{"value":0.96673897,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"99","issue":"11","first_page":"7518","last_page":"7523"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9945999979972839,"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":0.9945999979972839,"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/T10691","display_name":"Retinal Development and Disorders","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular 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/phototransduction","display_name":"phototransduction","score":0.8849999904632568},{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.871999979019165},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8450000286102295},{"id":"https://openalex.org/keywords/cochlea","display_name":"cochlea","score":0.49399998784065247},{"id":"https://openalex.org/keywords/sensory-system-evolution","display_name":"sensory system evolution","score":0.6710000038146973},{"id":"https://openalex.org/keywords/protein-kinase-domain","display_name":"kinase domain","score":0.45100000500679016}],"concepts":[{"id":"https://openalex.org/C6997183","wikidata":"https://www.wikidata.org/wiki/Q271727","display_name":"Myosin","level":2,"score":0.7550603151321411},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7308700680732727},{"id":"https://openalex.org/C57708383","wikidata":"https://www.wikidata.org/wiki/Q260182","display_name":"Null allele","level":4,"score":0.6043980121612549},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5863359570503235},{"id":"https://openalex.org/C131667965","wikidata":"https://www.wikidata.org/wiki/Q445081","display_name":"Visual phototransduction","level":3,"score":0.5224658250808716},{"id":"https://openalex.org/C154428179","wikidata":"https://www.wikidata.org/wiki/Q24721050","display_name":"PDZ domain","level":2,"score":0.4808269739151001},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.4771275520324707},{"id":"https://openalex.org/C2777379243","wikidata":"https://www.wikidata.org/wiki/Q1054318","display_name":"Drosophilidae","level":4,"score":0.4755299389362335},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4721187353134155},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.468422532081604},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4554046094417572},{"id":"https://openalex.org/C2780104201","wikidata":"https://www.wikidata.org/wiki/Q130888","display_name":"Drosophila melanogaster","level":3,"score":0.4440905451774597},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29120856523513794},{"id":"https://openalex.org/C2777093970","wikidata":"https://www.wikidata.org/wiki/Q169342","display_name":"Retina","level":2,"score":0.25770360231399536},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.11793720722198486}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003051","descriptor_name":"Cochlea","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004330","descriptor_name":"Drosophila","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004330","descriptor_name":"Drosophila","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025102","descriptor_name":"Myosin Type III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1073/pnas.102091699","doi":"https://doi.org/10.1073/pnas.102091699","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.102091699","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:124268","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/124268","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proc Natl Acad Sci U S A","raw_type":"Text"},{"id":"pmid:12032315","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12032315","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":"Proceedings of the National Academy of Sciences of the United States of America","raw_type":"Journal Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:124268","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/124268","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proc Natl Acad Sci U S A","raw_type":"Text"},"sustainable_development_goals":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1728482713","display_name":null,"funder_award_id":"R01 CD01076","funder_id":"https://openalex.org/F4320332162","funder_display_name":"Centers for Disease Control and Prevention"},{"id":"https://openalex.org/G8569909191","display_name":"GENETICS OF HEARING LOSS IN ISRAELI KINDREDS","funder_award_id":"R03TW001108","funder_id":"https://openalex.org/F4320337356","funder_display_name":"Fogarty International Center"}],"funders":[{"id":"https://openalex.org/F4320332162","display_name":"Centers for Disease Control and Prevention","ror":"https://ror.org/042twtr12"},{"id":"https://openalex.org/F4320337356","display_name":"Fogarty International Center","ror":"https://ror.org/02xey9a22"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1538524809","https://openalex.org/W1538619419","https://openalex.org/W1542932778","https://openalex.org/W1575291279","https://openalex.org/W1576840108","https://openalex.org/W1932075839","https://openalex.org/W1964200801","https://openalex.org/W2014893784","https://openalex.org/W2017428806","https://openalex.org/W2055043387","https://openalex.org/W2056963317","https://openalex.org/W2062371771","https://openalex.org/W2081818729","https://openalex.org/W2092196903","https://openalex.org/W2122907249","https://openalex.org/W2125450269","https://openalex.org/W2127016760","https://openalex.org/W2141502932","https://openalex.org/W2159205463"],"related_works":["https://openalex.org/W2031398886","https://openalex.org/W2081818729","https://openalex.org/W1982438983","https://openalex.org/W2782225309","https://openalex.org/W2127126837","https://openalex.org/W2015536540","https://openalex.org/W1971041908","https://openalex.org/W1829187432","https://openalex.org/W2290129949","https://openalex.org/W2298951600"],"abstract_inverted_index":{"Normal":[0],"vision":[1,157],"in":[2,60,81,108,115,143,154],"Drosophila":[3,35,61,156],"requires":[4,83],"NINAC,":[5],"a":[6,29,44,54],"class":[7,30,151],"III":[8,11,152],"myosin.":[9],"Class":[10],"myosins":[12,153],"are":[13,119,123],"hybrid":[14],"motor-signaling":[15],"molecules,":[16],"with":[17,39,43,139],"an":[18,92,162],"N-terminal":[19],"kinase":[20],"domain,":[21],"highly":[22,137],"conserved":[23],"head":[24],"and":[25,28,42,69,121,145,158],"neck":[26],"domains,":[27],"III-specific":[31],"tail":[32],"domain.":[33],"In":[34,91],"rhabdomeres,":[36],"NINAC":[37,62],"interacts":[38],"actin":[40],"filaments":[41],"PDZ":[45],"scaffolding":[46],"protein":[47],"to":[48,71],"organize":[49],"the":[50,66,86,140],"phototransduction":[51],"machinery":[52],"into":[53],"signaling":[55],"complex.":[56],"Recessive":[57],"null":[58],"mutations":[59,107],"delay":[63],"termination":[64],"of":[65,89,128,132,149],"photoreceptor":[67],"response":[68],"lead":[70],"progressive":[72,97],"retinal":[73],"degeneration.":[74],"Here,":[75],"we":[76],"show":[77],"that":[78],"normal":[79],"hearing":[80,98,160],"humans":[82],"myosin":[84,109,134],"IIIA,":[85],"human":[87,159],"homolog":[88],"NINAC.":[90],"extended":[93],"Israeli":[94],"family,":[95],"nonsyndromic":[96],"loss":[99],"is":[100,136,161],"caused":[101],"by":[102],"three":[103],"different":[104],"recessive,":[105],"loss-of-function":[106],"IIIA.":[110],"Of":[111],"18":[112],"affected":[113],"relatives":[114],"Family":[116],"N,":[117],"7":[118],"homozygous":[120],"11":[122],"compound":[124],"heterozygous":[125],"for":[126],"pairs":[127],"mutant":[129],"alleles.":[130],"Expression":[131],"mammalian":[133],"IIIA":[135],"restricted,":[138],"strongest":[141],"expression":[142],"retina":[144],"cochlea.":[146],"The":[147],"involvement":[148],"homologous":[150],"both":[155],"evolutionary":[163],"link":[164],"between":[165],"these":[166],"sensory":[167],"systems.":[168]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":17},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":17},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":14}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
