ReviewHearing research2019
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Review in Hearing research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed, 59 citations in OpenAlex.
- AFrontiers in cell and developmental biology · 2026Article
- Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout.Human mutation · 2026Article
- Single-molecule fluorescence microscopy reveals regulatory mechanisms of MYO7A-driven cargo transport in stereocilia of live inner ear hair cells.Nature communications · 2025Article
- Super-resolution mapping of the ankle link proteins ADGRV1 and PDZD7 in developing auditory hair cells.iScience · 2025Article
- [Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Review
- Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.Genes · 2025Review
- A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.Advances in experimental medicine and biology · 2025Article
- Article
- Spatially resolved single-cell atlas of ascidian endostyle provides insight into the origin of vertebrate pharyngeal organs.Science advances · 2024Article
- RNA-Seq Analysis of Trans-Differentiated ARPE-19 Cells Transduced by AAV9-AIPL1 Vectors.International journal of molecular sciences · 2023Article
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family.Molecular biology reports · 2023Article
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.International journal of molecular sciences · 2023Review
- Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report.Cureus · 2023Article
- Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation.Nature communications · 2023Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.Frontiers in genetics · 2023Article
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. However, mutations in most USH causative genes lead to other diseases, such as hearing loss only or vision loss only. The molecular mechanisms underlying the variable disease manifestations associated with USH gene mutations are unclear. This review focuses on an USH type 2 (USH2) gene encoding whirlin (WHRN; previously known as DFNB31), mutations in which have been found to cause either USH2 subtype USH2D or autosomal recessive non-syndromic deafness type 31 (DFNB31). This review summarizes the current knowledge about different whirlin isoforms encoded by WHRN orthologs in animal models, the interactions of different whirlin isoforms with their partners, and the function of whirlin isoforms in different cellular and subcellular locations. The recent findings regarding the function of whirlin isoforms suggest that disruption of different isoforms may be one of the mechanisms underlying the variable disease manifestations caused by USH gene mutations. This review also presents recent findings about the vestibular defects in Whrn mutant mouse models, which suggests that previous assumptions about the normal vestibular function of USH2 patients need to be re-evaluated. Finally, this review describes recent progress in developing therapeutics for diseases caused by WHRN mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.