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...

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Библиографические подробности
Опубликовано в: :J Clin Invest
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2020
Предметы:
Concise Communication
Online-ссылка: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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