ArticleEuropean journal of human genetics : EJHG2017
Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- Identification of Potential Meniere's Disease Targets in the Adult Stria Vascularis.Frontiers in neurology · 2021Pooled it
- 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
- Intratympanic injection of emulsion-like dispersions to co-deliver cinnarizine and morin hydrate-lipoid E80 complex in a rabbit inner ear model.Therapeutic delivery · 2025Article
- Association of Metabolic Dysfunction-Associated Steatotic Liver Disease With Sudden Sensorineural Hearing Loss Among Older Adults.Laryngoscope investigative otolaryngology · 2025Article
- 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
- Intratympanic injections of emulsion-like dispersions to augment cinnarizine amount in a healthy rabbit inner ear model.Nanomedicine (London, England) · 2024Article
- Types of Inheritance and Genes Associated with Familial Meniere Disease.Journal of the Association for Research in Otolaryngology : JARO · 2023Review
- Article
- Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease.Cells · 2023Review
- Genetic advances in Meniere Disease.Molecular biology reports · 2023Review
- Correlation of semi-quantitative findings of endolymphatic hydrops in MRI with the audiometric findings in patients with Meniere's disease.Journal of otology · 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
- Genetics and the Individualized Therapy of Vestibular Disorders.Frontiers in neurology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity.
Indexed as
Identifiers
What OpenQuestion holds
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.