ArticleScientific reports2016
S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Serum metabolomic profiling identifies a biomarker panel associated with age-related hearing loss.Biochemistry and biophysics reports · 2026Article
- The Cochlear Lateral Wall as a Biological Battery: the Mechanisms Underlying KJournal of the Association for Research in Otolaryngology : JARO · 2026Review
- Non-invasive testing to diagnose the underlying auditory pathology of hearing impairment.Hearing research · 2025Article
- Genes underlying hereditary hearing impairment in humans and in mice.microPublication biology · 2025Article
- A new mutation of Sgms1 causes gradual hearing loss associated with a reduced endocochlear potential.Hearing research · 2024Article
- Bile Acid Application in Cell-Targeting for Molecular Receptors in Relation to Hearing: A Comprehensive Review.Current drug targets · 2024Review
- Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.PLoS genetics · 2023Article
- Reversal of an existing hearing loss by gene activation inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- The Effect of aCells · 2022Article
- Structure of S1PR2-heterotrimeric GScience advances · 2022Article
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.BMC biology · 2022Article
- Diagnostic and predictive values of serum metabolic profiles in sudden sensorineural hearing loss patients.Frontiers in molecular biosciences · 2022Article
- G protein-coupled receptors in cochlea: Potential therapeutic targets for hearing loss.Frontiers in molecular neuroscience · 2022Review
- VEGFA165 gene therapy ameliorates blood-labyrinth barrier breakdown and hearing loss.JCI insight · 2021Article
- Translational and interdisciplinary insights into presbyacusis: A multidimensional disease.Hearing research · 2021Review
- Preclinical and Clinical Evidence for the Involvement of Sphingosine 1-Phosphate Signaling in the Pathophysiology of Vascular Cognitive Impairment.Neuromolecular medicine · 2021Review
- Inner hair cell dysfunction in Klhl18 mutant mice leads to low frequency progressive hearing loss.PloS one · 2021Article
- Functional analysis of candidate genes from genome-wide association studies of hearing.Hearing research · 2020Article
- Sphingosine 1-Phosphate Receptor 2 Induces Otoprotective Responses to Cisplatin Treatment.Cancers · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf, stdf ) leading to recessive, early-onset progressive hearing loss was detected and exome sequencing revealed a Thr289Arg substitution in Sphingosine-1-Phosphate Receptor-2 (S1pr2). Mutants aged 2 weeks had normal hearing sensitivity, but at 4 weeks most showed variable degrees of hearing impairment, which became severe or profound in all mutants by 14 weeks. Endocochlear potential (EP) was normal at 2 weeks old but was reduced by 4 and 8 weeks old in mutants, and the stria vascularis, which generates the EP, showed degenerative changes. Three independent mouse knockout alleles of S1pr2 have been described previously, but this is the first time that a reduced EP has been reported. Genomic markers close to the human S1PR2 gene were significantly associated with auditory thresholds in the 1958 British Birth Cohort (n = 6099), suggesting involvement of S1P signalling in human hearing loss. The finding of early onset loss of EP gives new mechanistic insight into the disease process and suggests that therapies for humans with hearing loss due to S1P signalling defects need to target strial function.
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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.