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Autosomal Recessive 23 Deafness

mutationin PCDH15

Also Known As:

Deafness, Autosomal Recessive 23; DFNB23

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Blindness (Hysterical Blindness)
2.	type 1F Usher syndrome

Experts

1.	Wilcox, Edward R: 2 articles (05/2009 - 06/2006)
2.	Cater, Tracey: 1 article (05/2009)
3.	Cooke, Sandra: 1 article (05/2009)
4.	Doucette, Lance: 1 article (05/2009)
5.	Fernandez, Bridget: 1 article (05/2009)
6.	Galutira, Dante: 1 article (05/2009)
7.	Green, Jane S: 1 article (05/2009)
8.	Ives, Elizabeth: 1 article (05/2009)
9.	King, Mary-Claire: 1 article (05/2009)
10.	Lee, Ming: 1 article (05/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 23 Deafness:

1.	Cadherins (E-Cadherin)IBA 05/01/2009 - "Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). "
2.	AntigensIBA 06/28/2006 - "Mass spectrometric and Western blot analyses identify the tip-link antigen, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye, as an avian ortholog of human protocadherin-15, a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus. "