Article
Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.
Disease models & mechanisms - 3 Mar 2020
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
Abstract excerpt
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 affected members of the same family, make it difficult to functionally distinguish between the different SIX1...
Topics
- Amino Acid Sequence
- Animals
- Branchio-Oto-Renal Syndrome
- Ear
- Gene Expression Regulation, Developmental
- HEK293 Cells
- Homeodomain Proteins
- Humans
- Mutation
- Neural Crest