Mutation of SLC7A14 Causes Auditory Neuropathy and Retinitis Pigmentosa Mediated by Lysosomal Dysfunction

Autor: Wang T, Baofu Chen, Gong S, Giffen Kp, Janesick A, Yongzhe Li, Zhao X, Shen R, Bechara Kachar, Liu H, Jin Z, David Z.Z. He, Chao Zhang

Lysosomes contribute to cellular homeostasis via processes including phagocytosis, macromolecule catabolism, secretion, and nutrient sensing mechanisms. Defective proteins related to lysosomal macromolecule catabolism are known to cause a broad range

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::556c9bb548f3bb02abec210340d2c123
https://doi.org/10.1101/2021.06.10.21258486

Twelve tips for orienting preclinical healthcare students to simulation education.

Autor: Martin AT; Faculty of Medical Sciences, University of Georgia, Augusta University/University of Georgia Medical Partnership, Athens, Georgia, USA., Giffen KP; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University/University of Georgia Medical Partnership, Athens, Georgia, USA.

Publikováno v: Medical teacher [Med Teach] 2024 Oct; Vol. 46 (10), pp. 1291-1295. Date of Electronic Publication: 2024 Mar 13.

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.

Autor: Giffen KP; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University/University of Georgia Medical Partnership, Athens, GA 30602, USA., Li Y; Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China., Liu H; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA., Zhao XC; Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China., Zhang CJ; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, 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 Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China., Janesick A; Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA., Chen BB; Department of Otorhinolaryngology-Head and Neck Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, China., Gong SS; Department of Otorhinolaryngology-Head and Neck Surgery, Friendship Hospital, Capital Medical University, Beijing 100050, China., Kachar B; Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA., Jin ZB; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing 100730, China., He DZ; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA.

Publikováno v: Science advances [Sci Adv] 2022 Apr 08; Vol. 8 (14), pp. eabk0942. Date of Electronic Publication: 2022 Apr 08.

Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells.

Autor: Giffen KP; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., Liu H; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., Kramer KL; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., He DZ; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States.

Publikováno v: Frontiers in neuroscience [Front Neurosci] 2019 Oct 18; Vol. 13, pp. 1117. Date of Electronic Publication: 2019 Oct 18 (Print Publication: 2019).

Cell-Specific Transcriptome Analysis Shows That Adult Pillar and Deiters' Cells Express Genes Encoding Machinery for Specializations of Cochlear Hair Cells.

Autor: Liu H; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., Chen L; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States.; Chongqing Academy of Animal Science, Chongqing, China., Giffen KP; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., Stringham ST; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., Li Y; Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tonren Hospital, Capital Medical University, Beijing, China., Judge PD; Department of Otolaryngology-Head and Neck Surgery, University of Nebraska Medical Center, Omaha, NE, United States., Beisel KW; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States., He DZZ; Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE, United States.

Publikováno v: Frontiers in molecular neuroscience [Front Mol Neurosci] 2018 Oct 01; Vol. 11, pp. 356. Date of Electronic Publication: 2018 Oct 01 (Print Publication: 2018).