Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development

Single-nucleotide mutations in human SIX1 result in amino acid substitutions in either the protein-protein interaction domain or the homeodomain, and cause ∼4% of branchio-otic (BOS) and branchio-oto-renal (BOR) cases. The phenotypic variation between patients with the same mutation, even within aff...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Dis Model Mech
Asıl Yazarlar: Shah, Ankita M., Krohn, Patrick, Baxi, Aparna B., Tavares, Andre L. P., Sullivan, Charles H., Chillakuru, Yeshwant R., Majumdar, Himani D., Neilson, Karen M., Moody, Sally A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Company of Biologists Ltd 2020
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7063838/
https://ncbi.nlm.nih.gov/pubmed/31980437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.043489
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