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

• Main Authors: Ankita M. Shah (Author), Patrick Krohn (Author), Aparna B. Baxi (Author), Andre L. P. Tavares (Author), Charles H. Sullivan (Author), Yeshwant R. Chillakuru (Author), Himani D. Majumdar (Author), Karen M. Neilson (Author), Sally A. Moody (Author)
• Format: Book
• Published: The Company of Biologists, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...