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

• मुख्य लेखकों: Ankita M. Shah (लेखक), Patrick Krohn (लेखक), Aparna B. Baxi (लेखक), Andre L. P. Tavares (लेखक), Charles H. Sullivan (लेखक), Yeshwant R. Chillakuru (लेखक), Himani D. Majumdar (लेखक), Karen M. Neilson (लेखक), Sally A. Moody (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: The Company of Biologists, 2020-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...