{"id":"https://openalex.org/W2000898022","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","title":"Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome","display_name":"Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome","publication_year":1998,"publication_date":"1998-01-01","ids":{"openalex":"https://openalex.org/W2000898022","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","mag":"2000898022","pmid":"https://pubmed.ncbi.nlm.nih.gov/9603436"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","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":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018733955","display_name":"Shrawan Kumar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Shrawan Kumar","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. Kumar@boystown.org","Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. Kumar@boystown.org","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]},{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109202166","display_name":"William J. Kimberling","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William J. Kimberling","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055765316","display_name":"Michael D. Weston","orcid":"https://orcid.org/0000-0002-3743-457X","observed_orcids":["https://orcid.org/0000-0002-3743-457X"]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael D. Weston","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074462232","display_name":"Gerald Bradley Schaefer","orcid":"https://orcid.org/0000-0002-1236-0017","observed_orcids":["https://orcid.org/0000-0002-1236-0017"]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]},{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I59130452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bradley G. Schaefer","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska","Department of Pediatrics, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]},{"raw_affiliation_string":"Department of Pediatrics, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska","institution_ids":["https://openalex.org/I59130452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111438036","display_name":"Mary Anne Berg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary Anne Berg","raw_affiliation_strings":["Department of Pediatrics and Genetics, Stanford University Medical Center, Stanford, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Genetics, Stanford University Medical Center, Stanford, California","institution_ids":["https://openalex.org/I4210137306"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111964828","display_name":"Henri A. M. Marres","orcid":"https://orcid.org/0000-0003-3096-7071","observed_orcids":["https://orcid.org/0000-0003-3096-7071"]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Henri A. M. Marres","raw_affiliation_strings":["Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109275573","display_name":"Cor W. R. J. Cremers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Cor W. R. J. Cremers","raw_affiliation_strings":["Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5018733955"],"corresponding_institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":4.7859,"has_fulltext":false,"cited_by_count":63,"citation_normalized_percentile":{"value":0.95041186,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"11","issue":"6","first_page":"443","last_page":"449"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12631","display_name":"Head and Neck Anomalies","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12631","display_name":"Head and Neck Anomalies","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.012400000356137753,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.001500000013038516,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/eya1","display_name":"EYA1","score":0.7450000047683716},{"id":"https://openalex.org/keywords/branchio-oto-renal-syndrome","display_name":"branchio-oto-renal syndrome","score":0.9629999995231628},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9599999785423279},{"id":"https://openalex.org/keywords/frameshift-deletion","display_name":"frameshift deletion","score":0.871999979019165},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9070000052452087},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.8199999928474426},{"id":"https://openalex.org/keywords/branchial-cleft","display_name":"branchial cleft","score":0.8450000286102295},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.9679999947547913},{"id":"https://openalex.org/keywords/renal-anomalies","display_name":"renal anomalies","score":0.9639999866485596},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.828000009059906}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9193531274795532},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6792216897010803},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5929872393608093},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.09232556819915771}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","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":"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":"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":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015534","descriptor_name":"Trans-Activators","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017027","descriptor_name":"Protein Tyrosine Phosphatases","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":"D019280","descriptor_name":"Branchio-Oto-Renal Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co;2-s","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","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":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:9603436","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9603436","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8048999905586243}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4191502365","display_name":"GENTICS OF USHER SYNDROME","funder_award_id":"P01DC001813","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"}],"funders":[{"id":"https://openalex.org/F4320306958","display_name":"Friedreich's Ataxia Research Alliance","ror":"https://ror.org/04edgdk70"},{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W54905336","https://openalex.org/W1518105100","https://openalex.org/W1976854622","https://openalex.org/W1977624875","https://openalex.org/W1982643091","https://openalex.org/W1987590454","https://openalex.org/W1988831669","https://openalex.org/W1988890659","https://openalex.org/W1989102350","https://openalex.org/W2004934654","https://openalex.org/W2007840429","https://openalex.org/W2018934615","https://openalex.org/W2047304258","https://openalex.org/W2052199269","https://openalex.org/W2058642876","https://openalex.org/W2064121506","https://openalex.org/W2074717738","https://openalex.org/W2095528260","https://openalex.org/W2117439162","https://openalex.org/W2117628908","https://openalex.org/W2127914983","https://openalex.org/W2132854894","https://openalex.org/W2141858057","https://openalex.org/W2171731468","https://openalex.org/W2412745074","https://openalex.org/W2418957458","https://openalex.org/W2946022104","https://openalex.org/W4206003215"],"related_works":["https://openalex.org/W2406100433","https://openalex.org/W2171377237","https://openalex.org/W2790998825","https://openalex.org/W2029911728","https://openalex.org/W2014056123","https://openalex.org/W2012890039","https://openalex.org/W1998778256","https://openalex.org/W1974776472","https://openalex.org/W2609510317","https://openalex.org/W2887417411"],"abstract_inverted_index":{"The":[0],"Branchio-oto-renal":[1],"(BOR)":[2],"syndrome":[3,46],"is":[4],"an":[5],"autosomal":[6],"dominant":[7],"disorder":[8],"characterized":[9],"by":[10,37,58],"branchial":[11],"clefts,":[12],"preauricular":[13],"sinuses,":[14],"hearing":[15],"loss,":[16],"and":[17,61,80,110],"renal":[18],"anomalies.":[19],"Recent":[20],"studies":[21],"have":[22,50],"shown":[23],"that":[24,85],"mutations":[25,39,57,109],"in":[26,40,91],"EYA1":[27,42,97],"are":[28,47],"associated":[29,115],"with":[30,116],"BOR.":[31],"However,":[32],"the":[33,41,67,92,96,105,108,111],"underlying":[34],"molecular":[35],"mechanisms":[36],"which":[38],"gene":[43],"cause":[44],"BOR":[45,117],"unknown.":[48],"We":[49],"investigated":[51],"12":[52],"unrelated":[53],"Caucasian":[54],"families":[55],"for":[56],"heteroduplex":[59],"analysis":[60],"direct":[62],"sequencing":[63],"of":[64,95,107],"products":[65],"from":[66],"polymerase":[68],"chain":[69],"reaction.":[70],"In":[71],"this":[72],"study,":[73],"we":[74],"identified":[75],"two":[76],"novel":[77],"frameshift":[78],"deletions":[79],"a":[81,87],"single":[82],"base":[83],"substitution":[84],"introduces":[86],"stop":[88],"codon":[89],"mutation":[90],"C-terminal":[93],"region":[94],"gene.":[98],"No":[99],"obvious":[100],"relationships":[101],"were":[102],"observed":[103],"between":[104],"nature":[106],"variable":[112],"clinical":[113],"features":[114],"syndrome.":[118]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}