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A Splice-Site Variant in ACY1 Associated with Congenital Hearing Loss: Clinical, Biochemical, and Zebrafish Functional Evidence.

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Title: A Splice-Site Variant in ACY1 Associated with Congenital Hearing Loss: Clinical, Biochemical, and Zebrafish Functional Evidence.
Authors: Yu S; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China., Xu Z; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China., Wang H; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China., Chen L; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China., Hu SW; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China., Zhang Y; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China., Lyu H; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China., Wu H; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China., Wu M; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China., Shu Y; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China. yilai_shu@fudan.edu.cn.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China. yilai_shu@fudan.edu.cn., Chen W; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China. george501@sina.com.
Source: Biochemical genetics [Biochem Genet] 2026 Jun 20. Date of Electronic Publication: 2026 Jun 20.
Publication Type: Journal Article
Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Splice-Site Variant in ACY1 Associated with Congenital Hearing Loss: Clinical, Biochemical, and Zebrafish Functional Evidence.
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  Data: <searchLink fieldCode="AU" term="%22Yu+S%22">Yu S</searchLink>; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.<br /><searchLink fieldCode="AU" term="%22Xu+Z%22">Xu Z</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Chen+L%22">Chen L</searchLink>; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.<br /><searchLink fieldCode="AU" term="%22Hu+SW%22">Hu SW</searchLink>; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Lyu+H%22">Lyu H</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Wu+H%22">Wu H</searchLink>; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Wu+M%22">Wu M</searchLink>; Center for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China.<br /><searchLink fieldCode="AU" term="%22Shu+Y%22">Shu Y</searchLink>; ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Shanghai, 200032, China. yilai_shu@fudan.edu.cn.; NHC Key Laboratory of Hearing Medicine, Shanghai, 200031, China. yilai_shu@fudan.edu.cn.; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China. yilai_shu@fudan.edu.cn.<br /><searchLink fieldCode="AU" term="%22Chen+W%22">Chen W</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Children's Hospital of Fudan University, 399 Wan Yuan Road, Shanghai, 201102, China. george501@sina.com.
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      – Type: doi
        Value: 10.1007/s10528-026-11417-y
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      – Code: eng
        Text: English
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      – TitleFull: A Splice-Site Variant in ACY1 Associated with Congenital Hearing Loss: Clinical, Biochemical, and Zebrafish Functional Evidence.
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            – D: 20
              M: 06
              Text: 2026 Jun 20
              Type: published
              Y: 2026
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            – TitleFull: Biochemical genetics
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