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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang, Minwoo Wendy; Oh, Doo-Yi; Yi, Eunyoung; Liu, Xuezhong; Ling, Jie; Kim, Nayoung; Sharma, Kushal; Kim, Tai Young; Lee, Seungmin; Kim, Ah-Reum; Kim, Min Young; Kim, Min-A; Lee, Mingyu; Han, Jin-Hee; Han, Jae Joon; Park, Hye-Rim; Kim, Bong Jik; Lee, Sang-Yeon; Woo, Dong Ho; Oh, Jayoung; Oh, Soo-Jin; Du, Tingting; Koo, Ja-Won; Oh, Seung-Ha; Shin, Hyun-Woo; Seong, Moon-Woo; Lee, Kyu-Yup; Kim, Un-Kyung; Shin, Jung Bum; Sang, Shushan; Cai, Xinzhang; Mei, Lingyun; He, Chufeng; Blanton, Susan H; Chen, Zheng-Yi; Chen, Hongsheng; Liu, Xianlin; Nourbakhsh, Aida; Huang, Zaohua; Kang, Kwon-Woo; Park, Woong-Yang; Feng, Yong; Lee, C Justin; Choi, Byung Yoon.
Afiliação
  • Jang MW; KU-KIST Graduate School of Converging Science and Technology, Korea University, Seoul 02841, Republic of Korea.
  • Oh DY; Center for Cognition and Sociality, Institute for Basic Science, Daejeon 34141, Republic of Korea.
  • Yi E; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Liu X; College of Pharmacy and Natural Medicine Research Institute, Mokpo National University, Muan 58554, Republic of Korea.
  • Ling J; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Kim N; Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Sharma K; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Kim TY; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Lee S; Samsung Medical Center, Samsung Genome Institute, Seoul 06351, Republic of Korea.
  • Kim AR; College of Pharmacy and Natural Medicine Research Institute, Mokpo National University, Muan 58554, Republic of Korea.
  • Kim MY; Center for Cognition and Sociality, Institute for Basic Science, Daejeon 34141, Republic of Korea.
  • Kim MA; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Lee M; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Han JH; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Han JJ; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea.
  • Park HR; School of Life Sciences, KNU Creative BioResearch Group (BK21 plus project), Kyungpook National University, Daegu 41566, Republic of Korea.
  • Kim BJ; Department of Biomedical Sciences, Seoul National University Graduate School, Seoul 03080, Republic of Korea.
  • Lee SY; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Woo DH; Department of Otorhinolaryngology, Seoul National University Hospital, Seoul 03080, Republic of Korea.
  • Oh J; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Oh SJ; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Du T; Department of Otorhinolaryngology, Seoul National University Hospital, Seoul 03080, Republic of Korea.
  • Koo JW; Research Center for Animal Model, Jeonbuk Department of Inhalation Research, Korea Institute of Toxicology, Jeongeup 56212, Republic of Korea.
  • Oh SH; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Shin HW; Convergence Research Center for Diagnosis, Treatment and Care System of Dementia, Korea Institute of Science and Technology, Seoul 02792, Republic of Korea.
  • Seong MW; Department of Neuroscience, University of Virginia, Charlottesville, VA 22908.
  • Lee KY; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam 13620, Republic of Korea.
  • Kim UK; Department of Otorhinolaryngology, Seoul National University Hospital, Seoul 03080, Republic of Korea.
  • Shin JB; Department of Otorhinolaryngology, Seoul National University Hospital, Seoul 03080, Republic of Korea.
  • Sang S; Department of Laboratory Medicine, Seoul National University Hospital, Seoul 03080, Republic of Korea.
  • Cai X; Department of Otorhinolaryngology-Head and Neck Surgery, Kyungpook National University Hospital, Daegu 41944, Republic of Korea.
  • Mei L; Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea.
  • He C; School of Life Sciences, KNU Creative BioResearch Group (BK21 plus project), Kyungpook National University, Daegu 41566, Republic of Korea.
  • Blanton SH; Department of Neuroscience, University of Virginia, Charlottesville, VA 22908.
  • Chen ZY; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Chen H; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Liu X; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Nourbakhsh A; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Huang Z; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Kang KW; Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Park WY; Department of Otology and Laryngology, Harvard Medical School and Eaton-Peabody Laboratory, Boston, MA 02114.
  • Feng Y; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Lee CJ; Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
  • Choi BY; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136.
Proc Natl Acad Sci U S A ; 118(22)2021 06 01.
Article em En | MEDLINE | ID: mdl-34050020
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Códon sem Sentido / Genes Dominantes / Perda Auditiva Central / Proteínas de Membrana Limite: Animals / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Códon sem Sentido / Genes Dominantes / Perda Auditiva Central / Proteínas de Membrana Limite: Animals / Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2021 Tipo de documento: Article País de publicação: Estados Unidos