type 1D Usher syndrome

01/01/2001 - "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D."
01/01/2001 - "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D."
01/01/2013 - "The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by congenital deafness, vestibular dysfunction, and prepubertal onset of progressive retinitis pigmentosa. "
12/01/2003 - "Mutations in the cadherin 23 gene (CDH23) cause Usher syndrome type 1D in humans, a disease that results in retinitis pigmentosa and deafness. "
08/01/2011 - "Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and visual impairment). "

03/01/2008 - "Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1D), whereas missense mutations affecting strongly conserved motifs of the CDH23 protein cause non-syndromic deafness (DFNB12). "
11/03/2005 - "We characterized the genomic organization of human PCDH21 and performed mutation screening in 224 patients with autosomal recessive retinitis pigmentosa, 29 patients with Leber congenital amaurosis, and 26 patients with Usher syndrome type 1. PCDH21 spans 23 kb, consists of 17 exons, and encodes a protein that shows close phylogenetic relationship to cadherin-23 (CDH23), the protein involved in Usher syndrome type 1D. "

09/12/2009 - "Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D."

05/01/2011 - "This may provide a clue as to why, in some cases, PMCA2 mutations potentiated the deafness phenotype induced by coexisting mutations of cadherin-23 (Usher syndrome type 1D), a single pass membrane Ca(2+) binding protein that is abundantly expressed in the stereocilia."