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Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Giffen, Kimberlee P; Li, Yi; Liu, Huizhan; Zhao, Xiao-Chang; Zhang, Chang-Jun; Shen, Ren-Juan; Wang, Tianying; Janesick, Amanda; Chen, Bo-Bei; Gong, Shu-Sheng; Kachar, Bechara; Jin, Zi-Bing; He, David Z.
Afiliación
  • Giffen KP; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.
  • Li Y; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University/University of Georgia Medical Partnership, Athens, GA 30602, USA.
  • Liu H; Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
  • Zhao XC; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.
  • Zhang CJ; Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
  • Shen RJ; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China.
  • Wang T; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China.
  • Janesick A; Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China.
  • Chen BB; Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA.
  • Gong SS; Department of Otorhinolaryngology-Head and Neck Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, China.
  • Kachar B; Department of Otorhinolaryngology-Head and Neck Surgery, Friendship Hospital, Capital Medical University, Beijing 100050, China.
  • Jin ZB; Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.
  • He DZ; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China.
Sci Adv ; 8(14): eabk0942, 2022 04 08.
Article en En | MEDLINE | ID: mdl-35394837
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Sistema de Transporte de Aminoácidos y/ / Pérdida Auditiva Central / Lisosomas Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: Sci Adv Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Sistema de Transporte de Aminoácidos y/ / Pérdida Auditiva Central / Lisosomas Tipo de estudio: Etiology_studies Límite: Animals / Humans Idioma: En Revista: Sci Adv Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos