Article
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Experimental eye research - 1 Jul 2006
Reiners Jan, Nagel-Wolfrum Kerstin, Jürgens Karin, Märker Tina, Wolfrum Uwe
Abstract excerpt
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to three clinical USH types, namely USH1A-G, USH2A-C, USH3A (Davenport, S.L.H., Omenn, G.S., 1977. The heterogeneity of Usher syndrome. Vth Int. Conf. Birth Defects, Montreal; Petit, C., 2001. Usher syndrome: from genetics to pathogenesis....
Topics
- Adaptor Proteins, Signal Transducing
- Animals
- Cadherin Related Proteins
- Cadherins
- Cell Cycle Proteins
- Cytoskeletal Proteins
- Deafness
- Disease Models, Animal
- Dyneins
- Extracellular Matrix Proteins