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Cited by 330

The DOI matches its Crossref record; 179 of the 179 references it cites were found in a registry or an index.

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

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Mathur, Pranav, Yang, Jun·2015·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
DOI 10.1016/j.bbadis.2014.11.020
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Abstract

Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of USH and atypical USH. Among them, twelve have been identified as causative genes and one as a modifier gene. Studies on the proteins encoded by these USH genes suggest that USH proteins interact among one another and function in multiprotein complexes in vivo. Although their exact functions remain enigmatic in the retina, USH proteins are required for the development, maintenance and function of hair bundles, which are the primary mechanosensitive structure of inner ear hair cells. Despite the unavailability of a cure, progress has been made to develop effective treatments for this disease. In this review, we focus on the most recent discoveries in the field with an emphasis on USH genes, protein complexes and functions in various tissues as well as progress toward therapeutic development for USH.

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Research works printed but not linked: 35

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Metadata

Authors
Mathur, P., & Yang, J.
Venue
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Publisher
Elsevier BV
Published
2015-03
Volume
1852
Issue
3
Pages
406-420
ISSN
0925-4439 (ISSN-L)
DOI
10.1016/j.bbadis.2014.11.020
OpenAlex
W2008523038
Cited by
330
References
179
FWCI
7.91
Type
journal article
Language
en
Open access
hybrid
Licence
Funders
  • Hope for Vision
  • Foundation Fighting Blindness
  • E. Matilda Ziegler Foundation for the Blind, Inc.
  • National Eye Institute (EY020853, EY014800)
  • Research to Prevent Blindness
  • Moran Eye Center at the University of Utah

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CoChat. (2026). Citation check: Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. https://app.cochat.ai/papers/10.1016/j.bbadis.2014.11.020
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Mathur, P., & Yang, J. (2015). Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. https://doi.org/10.1016/j.bbadis.2014.11.020

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