ArticleHuman molecular genetics2016
A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.Genes · 2020Pooled it
- Research progress on the mechanisms and animal models of Ménière's disease.Genes & diseases · 2026Review
- Genetic contributions to familial Ménière's disease: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Review
- The Impact of Genetic Factors in Ménière's Disease.International journal of molecular sciences · 2026Review
- Preclinical Models to Study the Molecular Pathophysiology of Meniere's Disease: A Pathway to Gene Therapy.Journal of clinical medicine · 2025Article
- A modern conceptual framework for study and treatment of Meniere's disease.Frontiers in neurology · 2025Review
- RotaRod and acoustic startle reflex performance of two potential mouse models for Meniere's disease.The European journal of neuroscience · 2023Article
- Genetic advances in Meniere Disease.Molecular biology reports · 2023Review
- Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study.Frontiers in neurology · 2023Article
- A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss.European journal of human genetics : EJHG · 2022Article
- New Genetic Variants inGenes · 2022Article
- AFrontiers in cell and developmental biology · 2022Article
- Transcriptional Down-Regulation of Major Histocompatibility Complex as a Possible Pathogenesis for Meniere's Disease.Frontiers in neurology · 2022Article
- A Family with a High Incidence of Migraine and Vestibular Migraine and a Case of Menière's Disease.Case reports in medicine · 2021Article
- Genetics and the Individualized Therapy of Vestibular Disorders.Frontiers in neurology · 2021Review
- Article
- Spontaneous mutations of the Zpld1 gene in mice cause semicircular canal dysfunction but do not impair gravity receptor or hearing functions.Scientific reports · 2019Article
- Autoinflammatory characteristics and short-term effects of delivering high-dose steroids to the surface of the intact endolymphatic sac and incus in refractory Ménière's disease.Journal of otology · 2019Article
- Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.Frontiers in genetics · 2019Article
- Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.Frontiers in neurology · 2019Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Meniere's Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and medium frequencies with a variable progression to high frequencies. We identified a novel missense variant in the PRKCB gene in a Spanish family with MD segregating low-to-middle frequency SNHL. Confocal imaging showed strong PKCB II protein labelling in non-sensory cells, the tectal cells and inner border cells of the rat organ of Corti with a tonotopic expression gradient. The PKCB II signal was more pronounced in the apical turn of the cochlea when compared with the middle and basal turns. It was also much higher in cochlear tissue than in vestibular tissue. Taken together, our findings identify PRKCB gene as a novel candidate gene for familial MD and its expression gradient in supporting cells of the organ of Corti deserves attention, given the role of supporting cells in K
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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.