{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390021990398807296.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.5582/irdr.2024.01072"}},{"identifier":{"@type":"URI","@value":"https://www.jstage.jst.go.jp/article/irdr/14/1/14_2024.01072/_pdf"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2026023626"}}],"dc:title":[{"@language":"en","@value":"Research hotspots and trends of the <i>SLC26A4</i> gene-related hearing loss from the perspective of knowledge graph"}],"dc:language":"en","description":[{"type":"abstract","notation":[{"@language":"en","@value":"<p>This article aims to identify research hotspots and trends in research on <i>SLC26A4</i> gene-related hearing loss through bibliometric and visual analyses, providing a reference and direction for future research. Publications on <i>SLC26A4</i> gene research in hearing loss from 1994 to 2023 were retrieved from the Web of Science Core Collection database. Bibliometric analysis was conducted using the Bibliometrix 4.0.0 R package, CiteSpace 6.2.R6 software, and VOSviewer 1.6.20. The analysis encompassed journals, authors, keywords, institutions, countries, and references. Based on the analysis results, network maps were generated to evaluate collaborations among authors, countries, institutions, keyword co-occurrences, and co-citation references. This study identified 1,308 publications from 62 countries. Annual publication numbers have increased with fluctuations, showing rapid growth since 2011. The USA emerged as the leading contributor in this field based on scientific production, citations, and cooperation networks. <i>International Journal of Pediatric Otorhinolaryngology</i> had the highest number of publications, while <i>Laryngoscope</i> was the most cited journal. Harvard University was the most productive institution. Key researchers included Dai Pu, Griffith Andrew J., and Usami Shin-Ichi. There have been active collaborations between countries, authors, and institutions. The primary research topics focused on genotype-phenotype correlations, genetic screening, diagnostic advancements, and exploration of pathogenic mechanisms. Research on <i>SLC26A4</i> gene-related hearing loss has notably increased since 2011, with ongoing clinical investigations and basic research efforts. Future studies may further explore disease mechanisms and potential therapeutic interventions related to the <i>SLC26A4 </i>gene. </p>"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410021990398807298","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Li Yue"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]},{"@id":"https://cir.nii.ac.jp/crid/1410021990398807299","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Wen Cheng"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]},{"@id":"https://cir.nii.ac.jp/crid/1410021990398807169","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Yu Yiding"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]},{"@id":"https://cir.nii.ac.jp/crid/1410021990398807297","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Deng Lin"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]},{"@id":"https://cir.nii.ac.jp/crid/1410021990398807168","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Gao Shan"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]},{"@id":"https://cir.nii.ac.jp/crid/1410021990398807296","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Huang Lihui"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China."},{"@language":"en","@value":"Beijing Institute of Otolaryngology, Beijing, China."},{"@language":"en","@value":"Key Laboratory of Otolaryngology-Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China."}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"2186361X"},{"@type":"PISSN","@value":"21863644"}],"prism:publicationName":[{"@language":"en","@value":"Intractable & Rare Diseases Research"},{"@language":"ja","@value":"Intractable & Rare Diseases Research"},{"@language":"en","@value":"IRDR"}],"dc:publisher":[{"@language":"en","@value":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement"},{"@language":"ja","@value":"特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会"}],"prism:publicationDate":"2025-02-28","prism:volume":"14","prism:number":"1","prism:startingPage":"55","prism:endingPage":"66"},"reviewed":"false","url":[{"@id":"https://www.jstage.jst.go.jp/article/irdr/14/1/14_2024.01072/_pdf"},{"@id":"https://search.jamas.or.jp/link/ui/2026023626"}],"availableAt":"2025-02-28","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=%3Ci%3ESLC26A4%3C/i%3E%20gene","dc:title":"<i>SLC26A4</i> gene"},{"@id":"https://cir.nii.ac.jp/all?q=hearing%20loss","dc:title":"hearing loss"},{"@id":"https://cir.nii.ac.jp/all?q=hotspots","dc:title":"hotspots"},{"@id":"https://cir.nii.ac.jp/all?q=research%20trends","dc:title":"research trends"},{"@id":"https://cir.nii.ac.jp/all?q=visualization%20analysis","dc:title":"visualization analysis"}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050567175332644992","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011145244965120","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing"}]},{"@id":"https://cir.nii.ac.jp/crid/1360011146217893376","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)"}]},{"@id":"https://cir.nii.ac.jp/crid/1360018298253750528","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Bradford's Law of Bibliography of Science: an Interpretation"}]},{"@id":"https://cir.nii.ac.jp/crid/1360021394456576128","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022497911972224","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022498440134784","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"An Overview of Hereditary Hearing Loss"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022499097947264","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Lotka's law: A testing procedure"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022500559856384","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022501513556352","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Hearing loss trajectory and prediction model for children with enlarged vestibular aqueduct"}]},{"@id":"https://cir.nii.ac.jp/crid/1360022502091640064","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Bradford’s law: identification of the core journals for neurosurgery and its subspecialties"}]},{"@id":"https://cir.nii.ac.jp/crid/1360292621600414336","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China"}]},{"@id":"https://cir.nii.ac.jp/crid/1360294643746593280","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss"}]},{"@id":"https://cir.nii.ac.jp/crid/1360294647588845824","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features"}]},{"@id":"https://cir.nii.ac.jp/crid/1360303972865196160","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574092889643520","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574093545362176","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574093737497472","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574095377049344","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The Pendred syndrome gene encodes a chloride-iodide transport protein"}]},{"@id":"https://cir.nii.ac.jp/crid/1360581940737658880","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial"}]},{"@id":"https://cir.nii.ac.jp/crid/1360585447359754112","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A new age of precision gene therapy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360585449857780224","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges"}]},{"@id":"https://cir.nii.ac.jp/crid/1360585450879702400","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855571261542144","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i><scp>SLC26A4</scp></i> mutation frequency and spectrum in 109 Danish Pendred syndrome/<scp>DFNB4</scp> probands and a report of nine novel mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1360866922201665152","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss"}]},{"@id":"https://cir.nii.ac.jp/crid/1360866926475998720","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137043408144768","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"CiteSpace II: Detecting and visualizing emerging trends and transient patterns in scientific literature"}]},{"@id":"https://cir.nii.ac.jp/crid/1361137045556774400","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients"}]},{"@id":"https://cir.nii.ac.jp/crid/1361418521112555392","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699993466512640","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699994721305472","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A mutation in PDS causes non-syndromic recessive deafness"}]},{"@id":"https://cir.nii.ac.jp/crid/1361699995675153920","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations"}]},{"@id":"https://cir.nii.ac.jp/crid/1361981469405218304","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"A faster algorithm for betweenness centrality*"}]},{"@id":"https://cir.nii.ac.jp/crid/1362262943421450240","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China"}]},{"@id":"https://cir.nii.ac.jp/crid/1362262945987410688","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i>SLC26A4/PDS</i> genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities"}]},{"@id":"https://cir.nii.ac.jp/crid/1362262946405898624","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Etiology and Audiological Outcomes at 3 Years for 364 Children in Australia"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825896368824960","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i>GJB2</i>,<i>SLC26A4</i>and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107368605477632","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107369606631680","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The role and spectrum of<i>SLC26A4</i>mutations in Iranian patients with autosomal recessive hereditary deafness"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107370204977152","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"The Large Vestibular Aqueduct Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388844044995968","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome"}]},{"@id":"https://cir.nii.ac.jp/crid/1363388846233146240","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Theory and practise of the g-index"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951794626729216","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"An index to quantify an individual's scientific research output"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233270217958272","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Mutation spectrum and genotype–phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233270271991936","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Predictive effects of structural variation on citation counts"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233271238582400","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Origins and frequencies of <i>SLC26A4</i> (<i>PDS</i>) mutations in east and south Asians: global implications for the epidemiology of deafness"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001205546681216","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001205736304000","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study"}]},{"@id":"https://cir.nii.ac.jp/crid/1390020054941764736","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282752368811904","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Mutation analysis of the <i>SLC26A4</i> gene in three Chinese families"},{"@value":"Mutation analysis of the SLC26A4 gene in three Chinese families"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282763071797760","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Novel compound heterozygous mutations in <i>SLC26A4</i> gene in a Chinese family with enlarged vestibular aqueduct"}]},{"@id":"https://cir.nii.ac.jp/crid/1390287297545075072","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Molecular diagnosis of <i>SLC26A4</i>-related hereditary hearing loss in a group of patients from two provinces of Iran"},{"@value":"Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran"}]},{"@id":"https://cir.nii.ac.jp/crid/1390564238106968704","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["references"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Analysis of mutations in the <i>FOXI1</i> and <i>KCNJ10</i> genes in infants with a single-allele <i>SLC26A4</i> mutation"}]}],"dataSourceIdentifier":[{"@type":"JALC","@value":"oai:japanlinkcenter.org:2013909867"},{"@type":"CROSSREF","@value":"10.5582/irdr.2024.01072"}]}