文献

J-GLOBAL ID：201802251592968075   整理番号：18A1850861

GJB2遺伝子変異を持つ小児は様々な聴覚表現型を持つ

Children with GJB2 gene mutations have various audiological phenotypes

著者 (7件)： Wang Xianlei (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education) ,  Huang Lihui (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education) ,  Zhao Xuelei (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education) ,  Wang Xueyao (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education) ,  Cheng Xiaohua (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education) ,  Du Yating (Department of Anesthesiology, Peking University First Hospital) ,  Liu Dongxin (Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education)
資料名： BioScience Trends  (BioScience Trends)
巻： 12  号： 4  ページ： 419-425(J-STAGE)  発行年： 2018年 
JST資料番号： L8367A  ISSN： 1881-7815  CODEN： BTIRCZ  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 本研究ではGJB2遺伝子変異のある小児の聴覚表現型の変化を遡...

シソーラス用語： 遺伝子 ,...
準シソーラス用語： *GJB2遺伝子 ,...

ログイン（無料）して見る     続きはJDreamIII（有料）にて  {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=18A1850861&from=J-GLOBAL&jstjournalNo=L8367A") }}

著者キーワード (3件)： GJB2遺伝子 ,  スクリーニング ,  遺伝子型

分類 (2件)： 耳・鼻・咽頭・喉頭の疾患  (GQ03000X) ,  遺伝子の構造と化学  (EC02020U)

引用文献 (22件)：

• 1. Hilgert N, Smith RJH, Van Camp G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 2009; 9:546-564.
• 2. Kenneson A, Van NBK, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med. 2002; 4:258-274.
• 3. Lucotte G, Diéterlen F. The 35delG mutation in the connexin26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test. 2005; 9:20-25.
• 4. Ji Y, Lan L, Wang D, Zhao Y, Wang Q. Meta-analysis of epidemiological studies in the Chinese NSHL population with the GJB2 mutation. Journal of Audiology and Speech Pathology. 2011; 19:323-327. (in Chinese)
• 5. Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, Huang Z, Li Y, Xiang X, Yang J, Yao G, Wang Y, Yang T, Wu H. The p.V37I exclusive genotype of GJB2: A genetic risk indicator of postnatal permanent childhood hearing impairment. PLoS One. 2012; 7:e36621.

タイトルに関連する用語 (5件)： GJB2遺伝子 ,  変異 ,  小児 ,  聴覚 ,  表現型