[HTML][HTML] Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities

P Mathur, J Yang - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
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 …

Usher syndrome: genetics of a human ciliopathy

C Fuster-García, B García-Bohórquez… - International journal of …, 2021 - mdpi.com
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by
sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction …

CRISPR/CAS-related methods and compositions for treating leber's congenital amaurosis 10 (LCA10)

ML Maeder, DA Bumcrot, S Shen - US Patent 9,938,521, 2018 - Google Patents
US9938521B2 - CRISPR/CAS-related methods and compositions for treating leber's
congenital amaurosis 10 (LCA10) - Google Patents US9938521B2 - CRISPR/CAS-related …

Usher syndrome: genetics and molecular links of hearing loss and directions for therapy

M Whatley, A Francis, ZY Ng, XE Khoh, MD Atlas… - Frontiers in …, 2020 - frontiersin.org
Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

M Stemerdink, B García-Bohórquez, R Schellens… - Human Genetics, 2021 - Springer
Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a
combination of sensorineural hearing loss and a progressive loss of vision resulting from …

Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network

M Grati, JB Shin, MD Weston, J Green… - Journal of …, 2012 - Soc Neuroscience
Usher syndrome is the leading cause of genetic deaf–blindness. Monoallelic mutations in
PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and …

[图书][B] An introduction to genetics for language scientists

D Dediu - 2015 - books.google.com
During the last few decades we have discovered enormous amounts about our genomes,
their evolution and, importantly for linguists and language scientists, the genetic foundations …

A review of CRISPR tools for treating usher syndrome: applicability, safety, efficiency, and in vivo delivery

L Major, ME McClements, RE MacLaren - International Journal of …, 2023 - mdpi.com
This review considers research into the treatment of Usher syndrome, a deaf-blindness
syndrome inherited in an autosomal recessive manner. Usher syndrome mutations are …

The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells

J Zou, Q Chen, A Almishaal, PD Mathur… - Human molecular …, 2017 - academic.oup.com
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested
as USH1, USH2 and USH3 clinical types. The protein products of USH2 causative and …

[HTML][HTML] Pathogenesis and treatment of usher syndrome type IIA

K Zaw, LS Carvalho, MT Aung-Htut… - The Asia-Pacific …, 2022 - journals.lww.com
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated
prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is …