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. |
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| 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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