Cadherin-23

Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

Bell CJ et al. (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bahloul A et al. (2010) Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.

Sotomayor M et al. (2010) Structural determinants of cadherin-23 function in hearing and deafness.

Hawkins RD et al. (2004) The developmental genetics of auditory hair cells.

Noben-Trauth K et al. (2003) Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

de Brouwer AP et al. (2003) Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

Boëda B et al. (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Siemens J et al. (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

Astuto LM et al. (2002) CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

von Brederlow B et al. (2002) Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Marres HA et al. (1989) Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.

Bolz H et al. (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

Di Palma F et al. (2001) Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.

Zhang Q et al. (2017) Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.

Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schwander M et al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Wagatsuma M et al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Bork JM et al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Sotomayor M et al. (2012) Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.

Kazmierczak P et al. (2007) Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.

Schultz JM et al. (2005) Modification of human hearing loss by plasma-membrane calcium pump PMCA2.

NCBI article

OMIM.ORG article

Orphanet article

Wikipedia article