ReviewCurrent opinion in otolaryngology & head and neck surgery2008
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.
Review in Current opinion in otolaryngology & head and neck surgery, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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
16 citing papers in PubMed, 38 citations in OpenAlex.
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Recent advances in genetic etiology of non-syndromic deafness in children.Frontiers in neuroscience · 2023Review
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.Experimental & molecular medicine · 2021Article
- Molecular simulation of the Kv7.4[ΔS269] mutant channel reveals that ion conduction in the cavity is perturbed due to hydrophobic gating.Biochemistry and biophysics reports · 2021Article
- Alteration of Mesopontine Cholinergic Function by the Lack of KCNQ4 Subunit.Frontiers in cellular neuroscience · 2021Article
- Inhibition of Histone Methyltransferase G9a Attenuates Noise-Induced Cochlear Synaptopathy and Hearing Loss.Journal of the Association for Research in Otolaryngology : JARO · 2019Article
- Hair Cell Transduction, Tuning, and Synaptic Transmission in the Mammalian Cochlea.Comprehensive Physiology · 2017Review
- Cyclodextrins and Iatrogenic Hearing Loss: New Drugs with Significant Risk.Frontiers in cellular neuroscience · 2017Review
- Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.Journal of cellular and molecular medicine · 2013Article
- Downregulation of KCNQ4 by Janus kinase 2.The Journal of membrane biology · 2013Article
- Article
- Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.PloS one · 2013Article
- Restoration of ion channel function in deafness-causing KCNQ4 mutants by synthetic channel openers.British journal of pharmacology · 2012Article
- Genetics of hearing loss: focus on DFNA2.The application of clinical genetics · 2012Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
purpose of reviewThis article provides an update on the current progress in identification of KCNQ4 mutations responsible for DFNA2, a subtype of autosomal dominant nonsyndromic progressive hearing loss. RECENT
findingsHearing loss in pateints with DFNA2 usually start at high frequencies in their 20s and 30s, and then progress to more than 60 dB in less than 10 years, with middle and low frequencies often affected as well. To date, eight missense mutations and two deletions of the KCNQ4 gene have been identified in patients with DFNA2 with various clinical phenotypes. In general, missense mutations are associated with younger-onset and all-frequency hearing loss, whereas deletion mutations are underlying later-onset and pure high-frequency hearing loss. The etiology of DFNA2 remains largely unknown at this point, even though the degeneration of cochlear outer hair cells, caused by dysfunction of KCNQ4 channels, might be one of the underlying mechanisms. SUMMARY: During the last decade, significant progress has been made in identifying KCNQ4 mutations in patients with DFNA2. Elucidation of the pathogenic effect of these mutations will help to gain insights into the molecular mechanisms of hearing and hearing loss, which, in turn, will facilitate informative genetic counseling, early diagnosis, and even treatment of hearing loss.
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.