ArticleEuropean journal of human genetics : EJHG2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 15 citations in OpenAlex.
- Identification of indoles as potential endogenous ligands of ERRγ and their modulation on drug binding.Acta pharmacologica Sinica · 2025Article
- Estradiol Protects against Noise-Induced Hearing Loss and Modulates Auditory Physiology in Female Mice.International journal of molecular sciences · 2021Article
- Identifying genetic variants for age of migraine onset in a Han Chinese population in Taiwan.The journal of headache and pain · 2021Article
- Sex Differences in the Triad of Acquired Sensorineural Hearing Loss.International journal of molecular sciences · 2021Review
- Auditory function and dysfunction: estrogen makes a difference.Cellular and molecular life sciences : CMLS · 2020Review
- Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages.eLife · 2020Article
- Recent advances and future opportunities to diagnose male infertility.Current sexual health reports · 2019Article
- Deciphering GRINA/Lifeguard1: Nuclear Location, CaInternational journal of molecular sciences · 2019Review
- Sex differences in hearing: Probing the role of estrogen signaling.The Journal of the Acoustical Society of America · 2019Article
- Hearing Performance in the Follicular-Luteal Phase of the Menstrual Cycle.International journal of otolaryngology · 2018Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 4 countries.
Funding
Abstract
Analysis of chromosomal rearrangements has been highly successful in identifying genes involved in many congenital abnormalities including hearing loss. Herein, we report a subject, designated DGAP242, with congenital hearing loss (HL) and a de novo balanced translocation 46,XX,t(1;5)(q32;q15)dn. Using multiple next-generation sequencing techniques, we obtained high resolution of the breakpoints. This revealed disruption of the orphan receptor ESRRG on chromosome 1, which is differentially expressed in inner ear hair cells and has previously been implicated in HL, and disruption of KIAA0825 on chromosome 5. Given the translocation breakpoints and supporting literature, disruption of ESRRG is the most likely cause for DGAP242's phenotype and implicates ESRRG in a monogenic form of congenital HL, although a putative contributory role for KIAA0825 in the subject's disorder cannot be excluded.
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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.