{"id":"https://openalex.org/W4404122001","doi":"https://doi.org/10.1016/j.ydbio.2024.11.001","title":"R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line","display_name":"R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line","publication_year":2024,"publication_date":"2024-11-07","ids":{"openalex":"https://openalex.org/W4404122001","doi":"https://doi.org/10.1016/j.ydbio.2024.11.001","pmid":"https://pubmed.ncbi.nlm.nih.gov/39515407"},"language":"en","primary_location":{"id":"doi:10.1016/j.ydbio.2024.11.001","doi":"https://doi.org/10.1016/j.ydbio.2024.11.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ydbio.2024.11.001","pdf_url":null,"source":{"id":"https://openalex.org/S136634221","display_name":"Developmental Biology","issn_l":"0012-1606","issn":["0012-1606","1095-564X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental Biology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ydbio.2024.11.001","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078219834","display_name":"Wiam Smaili","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210124654","https://openalex.org/I48825208"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Wiam Smaili","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114546741","display_name":"Camille Pezet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210124654","https://openalex.org/I48825208"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Camille Pezet","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037136875","display_name":"Sandrine Marlin","orcid":"https://orcid.org/0000-0002-4115-9806","observed_orcids":["https://orcid.org/0000-0002-4115-9806"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210124654","https://openalex.org/I48825208"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210086369","https://openalex.org/I4210096427","https://openalex.org/I4210124654","https://openalex.org/I48825208"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sandrine Marlin","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France; Centre de r\u00e9f\u00e9rence des surdit\u00e9s g\u00e9n\u00e9tiques, H\u00f4pital Necker-Enfants Malades, AP-HP, F-75015, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France; Centre de r\u00e9f\u00e9rence des surdit\u00e9s g\u00e9n\u00e9tiques, H\u00f4pital Necker-Enfants Malades, AP-HP, F-75015, Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210097159","https://openalex.org/I4210165077"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027447998","display_name":"Sylvain Ernest","orcid":"https://orcid.org/0000-0001-5382-5338","observed_orcids":["https://orcid.org/0000-0001-5382-5338"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210124654","https://openalex.org/I48825208"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I40434647","https://openalex.org/I4210100892","https://openalex.org/I4210124654","https://openalex.org/I4210165077","https://openalex.org/I48825208"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvain Ernest","raw_affiliation_strings":["Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France. Electronic address: sylvain.ernest@inserm.fr"],"raw_orcid":"https://orcid.org/0000-0001-5382-5338","affiliations":[{"raw_affiliation_string":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory of Embryology and Genetics of Malformations, INSERM UMR 1163, F-75015, Paris, France. Electronic address: sylvain.ernest@inserm.fr","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":{"value":3690,"currency":"USD","value_usd":3690},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.20384738,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"517","issue":null,"first_page":"301","last_page":"316"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.5648999810218811,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.5648999810218811,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.31049999594688416,"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":0.04479999840259552,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dominant-mutations","display_name":"dominant mutations","score":0.6869999766349792},{"id":"https://openalex.org/keywords/hair-cells","display_name":"hair cells","score":0.9610000252723694},{"id":"https://openalex.org/keywords/lateral-line","display_name":"lateral line","score":0.9700000286102295},{"id":"https://openalex.org/keywords/gene-regulatory-elements","display_name":"gene regulatory elements","score":0.8130000233650208},{"id":"https://openalex.org/keywords/tubulin-isotypes","display_name":"tubulin isoforms","score":0.671999990940094},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.8240000009536743},{"id":"https://openalex.org/keywords/retinal-dystrophy","display_name":"retinal dystrophy","score":0.9900000095367432},{"id":"https://openalex.org/keywords/auditory-function","display_name":"auditory function","score":0.38499999046325684}],"concepts":[{"id":"https://openalex.org/C2776878037","wikidata":"https://www.wikidata.org/wiki/Q169444","display_name":"Zebrafish","level":3,"score":0.9315171241760254},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9061325788497925},{"id":"https://openalex.org/C2778500370","wikidata":"https://www.wikidata.org/wiki/Q212344","display_name":"Inner ear","level":2,"score":0.8463424444198608},{"id":"https://openalex.org/C53273792","wikidata":"https://www.wikidata.org/wiki/Q280969","display_name":"Lateral line","level":4,"score":0.6854512095451355},{"id":"https://openalex.org/C94487597","wikidata":"https://www.wikidata.org/wiki/Q11101","display_name":"Sensory system","level":2,"score":0.5967198014259338},{"id":"https://openalex.org/C198352243","wikidata":"https://www.wikidata.org/wiki/Q37105","display_name":"Line (geometry)","level":2,"score":0.47729408740997314},{"id":"https://openalex.org/C2778585322","wikidata":"https://www.wikidata.org/wiki/Q1566641","display_name":"Hair cell","level":3,"score":0.47526663541793823},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4624690115451813},{"id":"https://openalex.org/C2776035688","wikidata":"https://www.wikidata.org/wiki/Q1606558","display_name":"Affect (linguistics)","level":2,"score":0.4502784013748169},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4408608675003052},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3679427206516266},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3235982060432434},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.1847100853919983},{"id":"https://openalex.org/C46312422","wikidata":"https://www.wikidata.org/wiki/Q11024","display_name":"Communication","level":1,"score":0.16427239775657654},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10146605968475342},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.06190261244773865},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","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":"D000818","descriptor_name":"Animals","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":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006198","descriptor_name":"Hair Cells, Auditory","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006198","descriptor_name":"Hair Cells, Auditory","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006198","descriptor_name":"Hair Cells, Auditory","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006198","descriptor_name":"Hair Cells, Auditory","qualifier_ui":"Q000378","qualifier_name":"metabolism","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":"D007758","descriptor_name":"Ear, Inner","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D007758","descriptor_name":"Ear, Inner","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D007758","descriptor_name":"Ear, Inner","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D007758","descriptor_name":"Ear, Inner","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D014404","descriptor_name":"Tubulin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015027","descriptor_name":"Zebrafish","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D029961","descriptor_name":"Zebrafish Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D030801","descriptor_name":"Animals, Genetically Modified","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030801","descriptor_name":"Animals, Genetically Modified","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030801","descriptor_name":"Animals, Genetically Modified","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030801","descriptor_name":"Animals, Genetically Modified","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D053403","descriptor_name":"Lateral Line System","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ydbio.2024.11.001","doi":"https://doi.org/10.1016/j.ydbio.2024.11.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ydbio.2024.11.001","pdf_url":null,"source":{"id":"https://openalex.org/S136634221","display_name":"Developmental Biology","issn_l":"0012-1606","issn":["0012-1606","1095-564X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental Biology","raw_type":"journal-article"},{"id":"pmid:39515407","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39515407","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":"Developmental biology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1016/j.ydbio.2024.11.001","doi":"https://doi.org/10.1016/j.ydbio.2024.11.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ydbio.2024.11.001","pdf_url":null,"source":{"id":"https://openalex.org/S136634221","display_name":"Developmental Biology","issn_l":"0012-1606","issn":["0012-1606","1095-564X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Developmental Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.6240000128746033,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W1556198965","https://openalex.org/W1795603248","https://openalex.org/W2053188090","https://openalex.org/W2067063127","https://openalex.org/W2093315874","https://openalex.org/W2125349610","https://openalex.org/W2130499532","https://openalex.org/W2141413750","https://openalex.org/W2143616168","https://openalex.org/W2284379124","https://openalex.org/W2300785483","https://openalex.org/W2302115886","https://openalex.org/W2506180024","https://openalex.org/W2551318948","https://openalex.org/W2602849150","https://openalex.org/W2725788277","https://openalex.org/W2735030163","https://openalex.org/W2770652083","https://openalex.org/W2773876441","https://openalex.org/W2803271184","https://openalex.org/W2900310215","https://openalex.org/W2902542163","https://openalex.org/W2934310150","https://openalex.org/W2966718175","https://openalex.org/W2974533475","https://openalex.org/W3007078842","https://openalex.org/W3038929236","https://openalex.org/W3125732001","https://openalex.org/W3135933568","https://openalex.org/W4200483943","https://openalex.org/W4210889426","https://openalex.org/W4214656963","https://openalex.org/W4283014735","https://openalex.org/W4382877355","https://openalex.org/W4389180606","https://openalex.org/W4395447805","https://openalex.org/W6853667035"],"related_works":["https://openalex.org/W1966345819","https://openalex.org/W2105092398","https://openalex.org/W2265262734","https://openalex.org/W2884175513","https://openalex.org/W1992114076","https://openalex.org/W1997381890","https://openalex.org/W1515867688","https://openalex.org/W2333494589","https://openalex.org/W4402686618","https://openalex.org/W1493367564"],"abstract_inverted_index":{"Heterozygous":[0],"R391":[1,32,64,93],"TUBB4B":[2],"pathogenic":[3,29,137],"variations":[4],"are":[5],"responsible":[6],"for":[7,48],"an":[8],"association":[9],"of":[10,21,25,31,50,69,92,145],"hearing":[11],"loss":[12],"and":[13,27,39,46,58,124],"retinal":[14],"dystrophy":[15],"in":[16,37,53,85,95,113,128],"human.":[17],"With":[18],"the":[19,23,28,41],"goal":[20],"understanding":[22],"functions":[24],"TuBB4b":[26],"role":[30],"variations,":[33],"we":[34,61],"characterized":[35],"tubB4B":[36],"zebrafish":[38,103,114],"identified":[40],"gene":[42],"regulatory":[43],"elements":[44],"necessary":[45],"sufficient":[47],"expression":[49,122],"TubB4b":[51],"as":[52],"endogenous":[54],"tissues.":[55],"Using":[56],"knock-out":[57],"transgenic":[59,125],"approaches,":[60],"determined":[62],"that":[63],"mutations":[65,94],"impair":[66],"neither":[67],"localization":[68],"TubB4B":[70],"within":[71],"sensory":[72,96],"hair":[73,97],"cells":[74,98],"(SHC)":[75],"nor":[76],"their":[77],"structure,":[78],"but":[79],"induced":[80],"to":[81,117,140],"a":[82,106],"small":[83],"decrease":[84],"SHC":[86],"number":[87],"from":[88],"anterior":[89],"crista.":[90],"Expression":[91],"has":[99],"no":[100],"effect":[101],"on":[102],"audition,":[104],"suggesting":[105],"different":[107],"equilibrium":[108],"between":[109],"various":[110],"tubulin":[111],"isotypes":[112],"possibly":[115],"due":[116],"compensatory":[118],"mechanisms.":[119],"The":[120],"careful":[121],"analysis":[123],"tools":[126],"generated":[127],"this":[129],"study":[130],"could":[131],"help":[132],"understand":[133],"how":[134],"recently":[135],"described":[136],"variants":[138],"lead":[139],"more":[141],"severe":[142],"clinical":[143],"forms":[144],"TUBB4B-related":[146],"diseases.":[147]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}