ReviewFrontiers in genetics2020
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Review in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 50 citations in OpenAlex.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.Human reproduction update · 2021Pooled it
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- Multimodal imaging and intravitreal faricimab for polypoidal choroidal vasculopathy associated with a choroidal nevus in genetically confirmed Usher syndrome type 2: a case report.BMC ophthalmology · 2026Article
- Usher Syndrome Type 2D Associated With a Novel Homozygous Whrn c.74dup Variant: A Case Report.Cureus · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Article
- Structural Abnormalities of the Brain Detected by 7 Tesla MRI in Patients with Usher Syndrome.Journal of clinical medicine · 2025Article
- A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Article
- Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Safety of Human USH1C Transgene Expression Following Subretinal Injection in Wild-Type Pigs.Investigative ophthalmology & visual science · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.Molecular therapy. Nucleic acids · 2024Article
- Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.Journal of community genetics · 2024Article
- Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.International journal of molecular sciences · 2024Article
- An open-source tool for automated human-level circling behavior detection.Scientific reports · 2024Article
- MultiBac System-based Purification and Biophysical Characterization of Human Myosin-7a.Journal of visualized experiments : JoVE · 2024Article
- Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations.Cell genomics · 2024Article
- Sensory cells in tunicates: insights into mechanoreceptor evolution.Frontiers in cell and developmental biology · 2024Review
- Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report.Cureus · 2023Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 USH have been identified, decreasing in severity from Type 1 to 3, with symptoms of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP), and vestibular dysfunction. There are currently nine confirmed and two suspected USH-causative genes, and a further three candidate loci have been mapped. The proteins encoded by these genes form complexes that play critical roles in the development and maintenance of cellular structures within the inner ear and retina, which have minimal capacity for repair or regeneration. In the cochlea, stereocilia are located on the apical surface of inner ear hair cells (HC) and are responsible for transducing mechanical stimuli from sound pressure waves into chemical signals. These signals are then detected by the auditory nerve fibers, transmitted to the brain and interpreted as sound. Disease-causing mutations in USH genes can destabilize the tip links that bind the stereocilia to each other, and cause defects in protein trafficking and stereocilia bundle morphology, thereby inhibiting mechanosensory transduction. This review summarizes the current knowledge on Usher syndrome with a particular emphasis on mutations in USH genes, USH protein structures, and functional analyses in animal models. Currently, there is no cure for USH. However, the genetic therapies that are rapidly developing will benefit from this compilation of detailed genetic information to identify the most effective strategies for restoring functional USH proteins.
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