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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063838/
https://www.ncbi.nlm.nih.gov/pubmed/31980437
http://dx.doi.org/10.1242/dmm.043489

Ejemplares similares

Ejemplares similares