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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Veröffentlicht in:J Clin Invest
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2020
Schlagworte:
Concise Communication
Online Zugang: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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