Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism-Reference-Cited by-同舟云学术

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Published:2008-04-17 Issue:15 Volume:17 Page:2405-2415
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Jacobson S. G.,Cideciyan A. V.,Aleman T. S.,Sumaroka A.,Roman A. J.,Gardner L. M.,Prosser H. M.,Mishra M.,Bech-Hansen N. T.,Herrera W.,Schwartz S. B.,Liu X.-Z.,Kimberling W. J.,Steel K. P.,Williams D. S.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference47 articles.

1. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

2. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

3. Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

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

5. Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells

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