Usher syndrome
A Castiglione, C Möller - Audiology research, 2022 - mdpi.com
Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …
Genetics and pathological mechanisms of Usher syndrome
D Yan, XZ Liu - Journal of human genetics, 2010 - nature.com
Usher syndrome (USH) comprises a group of autosomal recessively inherited disorders
characterized by a dual sensory impairment of the audiovestibular and visual systems …
characterized by a dual sensory impairment of the audiovestibular and visual systems …
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Z Brownstein, LM Friedman, H Shahin, V Oron-Karni… - Genome biology, 2011 - Springer
Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi
Jewish (AJ) population has driven the expansion of screening panels as disease‐causing …
Jewish (AJ) population has driven the expansion of screening panels as disease‐causing …
Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F
Usher syndrome type 1F (USH1F), characterized by congenital lack of hearing and balance
and progressive loss of vision, is caused by mutations in the PCDH15 gene. In the …
and progressive loss of vision, is caused by mutations in the PCDH15 gene. In the …
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
JM Schultz, R Bhatti, AC Madeo, A Turriff… - Journal of medical …, 2011 - jmg.bmj.com
Background Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-
syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness …
syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness …
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and
progressive retinal degeneration. The protein-truncating p. Arg245* founder variant of …
progressive retinal degeneration. The protein-truncating p. Arg245* founder variant of …
Stem cell-based therapeutic applications in retinal degenerative diseases
Y Huang, V Enzmann, ST Ildstad - Stem Cell Reviews and Reports, 2011 - Springer
Retinal degenerative diseases that target photoreceptors or the adjacent retinal pigment
epithelium (RPE) affect millions of people worldwide. Retinal degeneration (RD) is found in …
epithelium (RPE) affect millions of people worldwide. Retinal degeneration (RD) is found in …
Update on Usher syndrome
Z Saihan, AR Webster, L Luxon… - Current opinion in …, 2009 - journals.lww.com
Update on Usher syndrome : Current Opinion in Neurology Update on Usher syndrome : Current
Opinion in Neurology Log in or Register Subscribe to journalSubscribe Get new issue alertsGet …
Opinion in Neurology Log in or Register Subscribe to journalSubscribe Get new issue alertsGet …
Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
Mutations in the PCDH15 gene, encoding protocadherin-15, are among the leading causes
of Usher syndrome type 1 (USH1F), and account for up to 12% USH1 cases worldwide. A …
of Usher syndrome type 1 (USH1F), and account for up to 12% USH1 cases worldwide. A …