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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Concise Communication
Acesso em linha: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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