ArticleJournal of medical genetics2018
Old gene, new phenotype: splice-altering variants in
Article in Journal of medical genetics, 2018. 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
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
20 citing papers in PubMed, 30 citations in OpenAlex.
- TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- [The cochlear extracellular matrix gene mutations and hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.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 · 2024Article
- Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.The journal of international advanced otology · 2024Article
- Functional evaluation of rare variants in complement factor I using a minigene assay.Frontiers in immunology · 2024Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.Annals of human genetics · 2022Article
- Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.European journal of pediatrics · 2022Article
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.Human genetics · 2021Article
- Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.Human genetics · 2020Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- [Identification of a novel mutation of CEACAM16 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2020Article
- Article
- Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.Journal of human genetics · 2019Article
- Single Cell and Single Nucleus RNA-Seq Reveal Cellular Heterogeneity and Homeostatic Regulatory Networks in Adult Mouse Stria Vascularis.Frontiers in molecular neuroscience · 2019Article
- Accelerated Age-Related Degradation of the Tectorial Membrane in theFrontiers in molecular neuroscience · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundHearing loss is a genetically and phenotypically heterogeneous disorder.
objectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.
methodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.
resultsWe identified two homozygous splice-altering variants (c.37G>T and c.662-1G>C) in the
conclusionsThese results suggest that loss-of-function mutations in
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.