Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.
Usher syndrome: molecular links of pathogenesis, proteins and pathways.
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.
Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment.
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
How the genetics of deafness illuminates auditory physiology.
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.
Update on Usher syndrome.
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
French Usher Syndrome Collaboration;
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Cadherins and mechanotransduction by hair cells.
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.