ReviewOral diseases2017
Unresolved questions regarding human hereditary deafness.
Review in Oral diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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.
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
20 citing papers in PubMed, 30 citations in OpenAlex.
- Article
- PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.Human genetics · 2024Article
- Exonic Deletions and Deep Intronic Variants of theHuman mutation · 2024Article
- Article
- LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL).Human genomics · 2023Article
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of theFrontiers in genetics · 2023Article
- Childhood hearing impairment and fertility in Norway.Scientific reports · 2022Article
- Identification of four novel variants in theFrontiers in genetics · 2022Article
- Genetics of Inner Ear Malformations: A Review.Audiology research · 2021Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.Scientific reports · 2021Article
- Review
- Review
- Mouse Models of Human Pathogenic Variants ofGenes · 2020Article
- A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.Frontiers in cellular neuroscience · 2020Article
- Mitochondrial Dysfunction in Primary Ovarian Insufficiency.Endocrinology · 2019Review
- Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran.Journal of audiology & otology · 2019Article
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Human molecular genetics · 2017Article
- Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Journal of translational medicine · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. This review on hereditary deafness focuses on three examples considered at first glance to be uncomplicated, however, upon inspection, are enigmatic and ripe for future research efforts. The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive clinical variability associated with TBC1D24 mutations. At present, it is unknown how different mutations of TBC1D24 cause non-syndromic deafness (DFNB86, OMIM 614617), epilepsy (OMIM 605021), epilepsy with deafness, or DOORS syndrome (OMIM 220500) that is characterized by deafness, onychodystrophy (alteration of toenail or fingernail morphology), osteodystrophy (defective development of bone), mental retardation, and seizures. A comprehensive understanding of the multifaceted roles of each gene associated with human deafness is expected to provide future opportunities for restoration as well as preservation of normal hearing.
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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.