Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.

Human molecular genetics - 19 Feb 2023

Huang Sida, Ma Lu, Liu Xuezhong, He Chufeng, Li Jiada, Hu Zhengmao, Jiang Lu, Liu Yalan, Liu Xianlin, Feng Yong, Cai Xinzhang

Abstract excerpt

Hereditary hearing loss has a genetic and phenotypic heterogeneity. However, it is still difficult to explain this heterogeneity perfectly with known deafness genes. Here, we report a novel causative gene EPHA10 as well as its non-coding variant in 5' untranslated region identified in a family with post-lingual autosomal dominant non-syndromic hearing loss from southern China. One affected member of this family...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5' Untranslated Regions
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Pedigree

Share to Up-Regulation

Source

Identifiers

PMID: 36048850
DOI: 10.1093/hmg/ddac223

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.PMID 36048850Read ↗

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.Semantic proximity Read ↗

Function and expression pattern of nonsyndromic deafness genes.Semantic proximity Read ↗

Prevalence and clinical features of hearing loss caused by EYA4 variants.Semantic proximity Read ↗

Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.Semantic proximity Read ↗

Identification of a novel mutation of EYA4 in a Chinese family with delayed nonsyndromic hearing loss and analysis of molecular epidemiology of EYA4 mutationsSemantic proximity Read ↗

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNASemantic proximity Read ↗

Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12Semantic proximity Read ↗

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Semantic proximity Read ↗

Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.Semantic proximity Read ↗

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.Semantic proximity Read ↗

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.Semantic proximity Read ↗

Novel Loss-of-Function Mutations in <i>COCH</i> Cause Autosomal Recessive Nonsyndromic DeafnessSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.