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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>Auditory neuropathy spectrum disorder (ANSD) is a confounding auditory disease in which the subjects respond to sound but have difficulties in speech discrimination. Herein, we examined two Asian families with hereditary late-age\u2013onset ANSD. By linkage analysis and exome sequencing, we identified the TMEM43-p.(Arg372Ter) variant as the etiology of the disease. To examine the mechanism of TMEM43 on ANSD, we generated a knock-in mouse with the p.(Arg372Ter) variant that recapitulated the progressive hearing loss phenotype of the two families. We discovered that variation in TMEM43 impairs the connexin-linked function of mediating passive conductance current in cochlear glial cells. Based on the pathology involving cochlear glial cells, we performed cochlear implant on the human patients, and their speech discrimination ability was restored.<\/jats:p>","DOI":"10.1073\/pnas.2019681118","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T16:20:09Z","timestamp":1622218809000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":29,"title":["A nonsense\n                    <i>TMEM43<\/i>\n                    variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder"],"prefix":"10.1073","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0479-6195","authenticated-orcid":false,"given":"Minwoo Wendy","family":"Jang","sequence":"first","affiliation":[{"name":"KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul 02841, Republic of Korea;"},{"name":"Center for Cognition and Sociality, Institute for Basic Science, Daejeon 34141, Republic of Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doo-Yi","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eunyoung","family":"Yi","sequence":"additional","affiliation":[{"name":"College of Pharmacy and Natural Medicine Research Institute, Mokpo National University, Muan 58554, Republic of Korea;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuezhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136;"},{"name":"Dr. John T. 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