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Keywords: Usher syndrome
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Journal Articles
In collection:
Cilia and Flagella
J Cell Sci (2017) 130 (21): 3698–3712.
Published: 01 November 2017
... of specific ciliary markers. Sensory cilia Usher syndrome Pcdh15 Integrin α8 Non-motile or primary cilia are centriole-derived, microtubule-based projections present in most metazoan cell types that are involved in sensory processes such as mechanosensation, chemosensation and photosensation...
Includes: Supplementary data
Journal Articles
J Cell Sci (2005) 118 (20): 4593–4603.
Published: 15 October 2005
...Aziz El-Amraoui; Christine Petit Defects in myosin VIIa, the PDZ-domain-containing protein harmonin, cadherin 23 and protocadherin 15 (two cadherins with large extracellular regions), and the putative scaffolding protein Sans underlie five genetic forms of Usher syndrome type I (USH1), the most...
Journal Articles
J Cell Sci (2004) 117 (26): 6473–6483.
Published: 15 December 2004
...Daniel Gibbs; Sassan M. Azarian; Concepcion Lillo; Junko Kitamoto; Adriana E. Klomp; Karen P. Steel; Richard T. Libby; David S. Williams Myosin VIIa functions in the outer retina, and loss of this function causes human blindness in Usher syndrome type 1B (USH1B). In mice with mutant Myo7a...
Includes: Multimedia, Supplementary data
Journal Articles
J Cell Sci (2004) 117 (2): 233–242.
Published: 15 January 2004
...Gautam Bhattacharya; Raghu Kalluri; Dana J. Orten; William J. Kimberling; Dominic Cosgrove Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder. This report demonstrates a specific interaction between type IV...
Journal Articles
J Cell Sci (2002) 115 (2): 445–450.
Published: 15 January 2002
... demonstrated for any myosin VII. The main purpose of the present paper was to test myosin VIIa for actin-based motility properties and to determine some basic characteristics of native myosin VIIa. Mutations in the gene encoding myosin VIIa can cause deafness and blindness, known as Usher syndrome 1B...