Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 w...

詳細記述

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書誌詳細
出版年:J Clin Invest
主要な著者: Bademci, Guney, Abad, Clemer, Cengiz, Filiz B., Seyhan, Serhat, Incesulu, Armagan, Guo, Shengru, Fitoz, Suat, Atli, Emine Ikbal, Gosstola, Nicholas C., Demir, Selma, Colbert, Brett M., Seyhan, Gozde Cosar, Sineni, Claire J., Duman, Duygu, Gurkan, Hakan, Morton, Cynthia C., Dykxhoorn, Derek M., Walz, Katherina, Tekin, Mustafa
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2020
主題:
Concise Communication
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7410044/
https://ncbi.nlm.nih.gov/pubmed/32369452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI136951
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