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Keywords: Usher syndrome
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Journal Articles
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Cilia and flagella
J Cell Sci (2017) 130 (21): 3698–3712.
Published: 1 November 2017
... ciliary markers. Sensory cilia Usher syndrome Pcdh15 Integrin α8 National Institutes of Health 10.13039/100000002 5P20RR018788 Tobacco Settlement Fund from the State of Nebraska Non-motile or primary cilia are centriole-derived, microtubule-based projections...
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
Journal Articles
J Cell Sci (2002) 115 (2): 445–450.
Published: 15 January 2002
... 2002 Unconventional myosin Myosin VIIa MYO7A Usher syndrome Mutations in the gene encoding myosin VIIa can cause deafness and blindness, known as Usher syndrome 1B ( Weil et al., 1995 ). Myosin VIIa is found in a variety of tissues ( Hasson et al., 1995 ; Wolfrum et al., 1998 ). Most...