Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

1998 ◽  
Vol 12 (6) ◽  
pp. 417-420 ◽  
Author(s):  
J.M Cuevas ◽  
C Espinós ◽  
J.M Millán ◽  
F Sánchez ◽  
M.J Trujillo ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

scholarly journals Impacts of Usher Syndrome Type IB Mutations on Human Myosin VIIa Motor Function†

Biochemistry ◽  
2008 ◽  
Vol 47 (36) ◽  
pp. 9505-9513 ◽  
Author(s):  
Shinya Watanabe ◽  
Nobuhisa Umeki ◽  
Reiko Ikebe ◽  
Mitsuo Ikebe
Keyword(s):  
Motor Function ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

Defective myosin VIIA gene responsible for Usher syndrome type IB

Nature ◽  
1995 ◽  
Vol 374 (6517) ◽  
pp. 60-61 ◽  
Author(s):  
Dominique Well ◽  
Stéphane Blanchard ◽  
Josseline Kaplan ◽  
Parry Guilford ◽  
Fernando Gibson ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

scholarly journals Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids

2010 ◽  
Vol 19 (18) ◽  
pp. 3557-3565 ◽  
Author(s):  
Amel Bahloul ◽  
Vincent Michel ◽  
Jean-Pierre Hardelin ◽  
Sylvie Nouaille ◽  
Sylviane Hoos ◽  
...  
Keyword(s):  
Ternary Complex ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Membrane Phospholipids ◽  
Myosin Viia ◽  
Cadherin 23 ◽  
Usher Syndrome Type

scholarly journals Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

1995 ◽  
Vol 92 (21) ◽  
pp. 9815-9819 ◽  
Author(s):  
T. Hasson ◽  
M. B. Heintzelman ◽  
J. Santos-Sacchi ◽  
D. P. Corey ◽  
M. S. Mooseker
Keyword(s):  
Gene Product ◽  
Usher Syndrome ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

1999 ◽  
Vol 13 (2) ◽  
pp. 133-140 ◽  
Author(s):  
Andreas R. Janecke ◽  
Moritz Meins ◽  
Mojy Sadeghi ◽  
Kathrin Grundmann ◽  
Eckart Apfelstedt-Sylla ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

Evaluation of the Myosin VIIA Gene and Visual Function in Patients with Usher Syndrome Type I

2000 ◽  
Vol 71 (2) ◽  
pp. 173-181 ◽  
Author(s):  
Amitabh K Bharadwaj ◽  
Joseph P Kasztejna ◽  
Syed Huq ◽  
Eliot L Berson ◽  
Thaddeus P Dryja
Keyword(s):  
Visual Function ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

2021 ◽  
Author(s):  
M. Stemerdink ◽  
B. García-Bohórquez ◽  
R. Schellens ◽  
G. Garcia-Garcia ◽  
E. Van Wijk ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Syndrome Type ◽  
Usher Syndrome Type
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