Deafness: from genetic architecture to gene therapy

C Petit, C Bonnet, S Safieddine - Nature Reviews Genetics, 2023 - nature.com
Progress in deciphering the genetic architecture of human sensorineural hearing
impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the …

Retinitis pigmentosa

DT Hartong, EL Berson, TP Dryja - The Lancet, 2006 - thelancet.com
Hereditary degenerations of the human retina are genetically heterogeneous, with well over
100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis …

Genomic landscape and mutational signatures of deafness-associated genes

H Azaiez, KT Booth, SS Ephraim, B Crone… - The American Journal of …, 2018 - cell.com
The classification of genetic variants represents a major challenge in the post-genome era
by virtue of their extraordinary number and the complexities associated with ascribing a …

Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c

B Pan, C Askew, A Galvin, S Heman-Ackah… - Nature …, 2017 - nature.com
Because there are currently no biological treatments for hearing loss, we sought to advance
gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a …

[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 …

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

S Delmaghani, A El-Amraoui - Human Genetics, 2022 - Springer
Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

P Kazmierczak, H Sakaguchi, J Tokita… - Nature, 2007 - nature.com
Hair cells of the inner ear are mechanosensors that transduce mechanical forces arising
from sound waves and head movement into electrochemical signals to provide our sense of …

Shaping the intestinal brush border

SW Crawley, MS Mooseker, MJ Tyska - Journal of Cell Biology, 2014 - rupress.org
Epithelial cells from diverse tissues, including the enterocytes that line the intestinal tract,
remodel their apical surface during differentiation to form a brush border: an array of actin …

Cadherins in brain morphogenesis and wiring

S Hirano, M Takeichi - Physiological reviews, 2012 - journals.physiology.org
Cadherins are Ca2+-dependent cell-cell adhesion molecules that play critical roles in
animal morphogenesis. Various cadherin-related molecules have also been identified …

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

K Kurima, LM Peters, Y Yang, S Riazuddin… - Nature …, 2002 - nature.com
Positional cloning of hereditary deafness genes is a direct approach to identify molecules
and mechanisms underlying auditory function. Here we report a locus for dominant …