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 …

Usher syndrome: clinical features, molecular genetics and advancing therapeutics

M Toms, W Pagarkar… - Therapeutic advances in …, 2020 - journals.sagepub.com
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F

MV Ivanchenko, DM Hathaway, AJ Klein, B Pan… - Nature …, 2023 - nature.com
Usher syndrome type 1 F (USH1F), caused by mutations in the protocadherin-15 gene
(PCDH15), is characterized by congenital deafness, lack of balance, and progressive …

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 …

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 …

PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models

MV Ivanchenko, DM Hathaway, EM Mulhall… - The Journal of clinical …, 2024 - jci.org
Usher syndrome type 1F (USH1F), resulting from mutations in the protocadherin-15
(PCDH15) gene, is characterized by congenital lack of hearing and balance, and …

The morphological and functional diversity of apical microvilli

M Sharkova, E Chow, T Erickson… - Journal of …, 2023 - Wiley Online Library
Sensory neurons use specialized apical processes to perceive external stimuli and monitor
internal body conditions. The apical apparatus can include cilia, microvilli, or both, and is …

Modeling retinitis pigmentosa: retinal organoids generated from the iPSCs of a patient with the USH2A mutation show early developmental abnormalities

Y Guo, P Wang, JH Ma, Z Cui, Q Yu, S Liu… - Frontiers in Cellular …, 2019 - frontiersin.org
Retinitis pigmentosa (RP) represents a group of inherited retinopathies with early-onset
nyctalopia followed by progressive photoreceptor degeneration causing irreversible vision …

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 …