ArticleThe application of clinical genetics2012
Genetics of hearing loss: focus on DFNA2.
Article in The application of clinical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 17 citations in OpenAlex.
- Common genetic etiologies of sensorineural hearing loss in Koreans.Genomics & informatics · 2024Review
- The Pathological Mechanisms of Hearing Loss Caused byBiomedicines · 2022Review
- Article
- A novelMolecular medicine reports · 2021Article
- Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.Experimental & molecular medicine · 2019Article
- Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.Scientific reports · 2018Article
- A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.Human genome variation · 2015Article
- The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.Disease models & mechanisms · 2014Review
- An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs.Canine genetics and epidemiology · 2014Article
- Progress and prospects in human genetic research into age-related hearing impairment.BioMed research international · 2014Review
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of this review is to assess the current literature on deafness nonsyndromic autosomal dominant 2 (DFNA2) hearing loss and the mutations linked to this disorder. Hearing impairment, particularly nonsyndromic hearing loss, affects multiple families across the world. After the identification of the DFNA2 locus on chromosome 1p34, multiple pathogenic mutations in two genes (GJB3 and KCNQ4) have been reported. The overwhelming majority of pathogenic mutations linked to this form of nonsyndromic hearing loss have been identified in the KCNQ4 gene encoding a voltage-gated potassium channel. It is believed that KCNQ4 channels are present in outer hair cells and possibly inner hair cells and the central auditory pathway. This form of hearing loss is both phenotypically and genetically heterogeneous and there are still DFNA2 pedigrees that have not been associated with changes in either GJB3 or KCNQ4, suggesting that a possible third gene exists at this locus. Further studies of the DFNA2 locus will lead to a better understanding of progressive hearing loss and provide a better means of early detection and treatment.
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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.