Ontology highlight
ABSTRACT:
SUBMITTER: Li Y
PROVIDER: S-EPMC2825735 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Li Youe Y Manaligod Jose M JM Weeks Daniel L DL
Biology of the cell 20100217 5
<h4>Background information</h4>The BOR (branchio-oto-renal) syndrome is a dominant disorder most commonly caused by mutations in the EYA1 (Eyes Absent 1) gene. Symptoms commonly include deafness and renal anomalies.<h4>Results</h4>We have used the embryos of the frog Xenopus laevis as an animal model for early ear development to examine the effects of different EYA1 mutations. Four eya1 mRNAs encoding proteins correlated with congenital anomalies in human were injected into early stage embryos. ...[more]