ArticleHearing research2020
Functional analysis of candidate genes from genome-wide association studies of hearing.
Article in Hearing research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Developmental differentiation of mouse inner ear neuron subpopulations resolved with a peripherin-promoter reporter within the Grm8 locus.Scientific reports · 2025Article
- Genetic resonance: dissecting the heritability and genetic correlations of human hearing acuity.G3 (Bethesda, Md.) · 2025Article
- Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts.Frontiers in genetics · 2025Article
- Investigating the effects of a cryptic splice site in the En2 splice acceptor sequence used in the IKMC knockout-first alleles.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations.Genome medicine · 2024Article
- Age-related hearing loss and its potential drug candidates: a systematic review.Chinese medicine · 2023Review
- The Development of Speaking and Singing in Infants May Play a Role in Genomics and Dementia in Humans.Brain sciences · 2023Review
- Single-cell transcriptomic atlas of mouse cochlear aging.Protein & cell · 2023Article
- Prognostic Gene Expression Signature for Age-Related Hearing Loss.Frontiers in medicine · 2022Article
- Association between NR3C1 gene polymorphisms and age-related hearing impairment in Qingdao Chinese elderly.BMC medical genomics · 2021Article
- Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice.Frontiers in cellular neuroscience · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
The underlying causes of age-related hearing loss (ARHL) are not well understood, but it is clear from heritability estimates that genetics plays a role in addition to environmental factors. Genome-wide association studies (GWAS) in human populations can point to candidate genes that may be involved in ARHL, but follow-up analysis is needed to assess the role of these genes in the disease process. Some genetic variants may contribute a small amount to a disease, while other variants may have a large effect size, but the genetic architecture of ARHL is not yet well-defined. In this study, we asked if a set of 17 candidate genes highlighted by early GWAS reports of ARHL have detectable effects on hearing by knocking down expression levels of each gene in the mouse and analysing auditory function. We found two of the genes have an impact on hearing. Mutation of Dclk1 led to late-onset progressive increase in ABR thresholds and the A430005L14Rik (C1orf174) mutants showed worse recovery from noise-induced damage than controls. We did not detect any abnormal responses in the remaining 15 mutant lines either in thresholds or from our battery of suprathreshold ABR tests, and we discuss the possible reasons for this.
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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.