ArticleDevelopmental cell2017
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
Article in Developmental cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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Who cites it
36 citing papers in PubMed, 55 citations in OpenAlex.
- Novel candidate genes for vestibular function identified through GWAS in the hybrid mouse diversity panel.BMC genomics · 2026Article
- Genetic requirement for Esrp1 and Esrp2 in vertebrate pituitary morphogenesis.Development (Cambridge, England) · 2025Article
- Comprehensive analysis of aberrant alternative splicing and RNA binding proteins associated with age-related sensorineural hearing loss.Scientific reports · 2025Article
- Epigenetic Modifications in Sensorineural Hearing Loss: Protective Mechanisms and Therapeutic Potential.Current medical science · 2025Review
- Article
- Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.Communications biology · 2024Article
- Functional analysis ofbioRxiv : the preprint server for biology · 2024Article
- Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States.Molecular systems biology · 2024Review
- The discovery, function, and regulation of epithelial splicing regulatory proteins (ESRP) 1 and 2.Biochemical Society transactions · 2023Article
- Article
- Dyslexia-Related Hearing Loss Occurs Mainly through the Abnormal Spontaneous Electrical Activity of Spiral Ganglion Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- The role of the stria vascularis in neglected otologic disease.Hearing research · 2023Review
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss.Cells · 2022Review
- Emerging Roles of RNA-Binding Proteins in Inner Ear Hair Cell Development and Regeneration.International journal of molecular sciences · 2022Review
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- New developments in the biology of fibroblast growth factors.WIREs mechanisms of disease · 2022Review
- Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.Human genetics · 2022Review
- Cellular Senescence and Aging in Myotonic Dystrophy.International journal of molecular sciences · 2022Review
- Intermediate Cells of Dual Embryonic Origin Follow a Basal to Apical Gradient of Ingression Into the Lateral Wall of the Cochlea.Frontiers in cell and developmental biology · 2022Article
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
Alternative splicing contributes to gene expression dynamics in many tissues, yet its role in auditory development remains unclear. We performed whole-exome sequencing in individuals with sensorineural hearing loss (SNHL) and identified pathogenic mutations in Epithelial Splicing-Regulatory Protein 1 (ESRP1). Patient-derived induced pluripotent stem cells showed alternative splicing defects that were restored upon repair of an ESRP1 mutant allele. To determine how ESRP1 mutations cause hearing loss, we evaluated Esrp1
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Registered trials
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.