Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.

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Title: Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.
Authors: Wang X; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang WQ; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Huang SS; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China., Wang X; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Hu LM; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Liu X; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang QQ; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang ZD; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Xu JC; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Yuan YY; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China., Gao X; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.
Source: Frontiers in genetics [Front Genet] 2026 Mar 18; Vol. 17, pp. 1791840. Date of Electronic Publication: 2026 Mar 18 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.
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  Data: <searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+WQ%22">Wang WQ</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Huang+SS%22">Huang SS</searchLink>; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Hu+LM%22">Hu LM</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Liu+X%22">Liu X</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+QQ%22">Wang QQ</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+ZD%22">Wang ZD</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xu+JC%22">Xu JC</searchLink>; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yuan+YY%22">Yuan YY</searchLink>; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Gao+X%22">Gao X</searchLink>; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Mar 18; Vol. 17, pp. 1791840. <i>Date of Electronic Publication: </i>2026 Mar 18 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fgene.2026.1791840
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              Text: 2026 Mar 18
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