ArticleNature communications2020
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 53 citations in OpenAlex.
- The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.Journal of biomedical science · 2026Article
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- A UniqueInternational journal of molecular sciences · 2026Article
- Bispecific Ligand-Based EphB4 CAR-T Cells Generated Using Ephrin-B2 Show Potent Antitumor Activity Against Lung Adenocarcinoma.Cancer science · 2026Article
- Article
- Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.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 · 2025Article
- Reevaluation of Enlarged Vestibular Aqueduct.JAMA otolaryngology-- head & neck surgery · 2025Article
- Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.Molecular medicine (Cambridge, Mass.) · 2025Article
- Article
- SLC26A4 regulates autophagy and activates the NLRP3 inflammasome to mediate pathological cardiac hypertrophy.Scientific reports · 2025Article
- Research hotspots and trends of theIntractable & rare diseases research · 2025Article
- Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.Scientific reports · 2025Article
- Eph receptor signaling complexes in the plasma membrane.Trends in biochemical sciences · 2024Review
- Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.BMC medical genomics · 2024Article
- Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.Human genomics · 2024Article
- Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.Human genetics · 2024Article
- Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.Scientific reports · 2024Article
- SLC26 Anion Transporters.Handbook of experimental pharmacology · 2024Review
- Exonic Deletions and Deep Intronic Variants of theHuman mutation · 2024Article
- Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo.Nature communications · 2023Article
Corrections and comments
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Authors and funding
22 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation. This suggests faulty pendrin regulatory machinery results in hearing loss. Here we identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4. EphA2 forms a protein complex with pendrin controlling pendrin localization, which is disrupted in some pathogenic forms of pendrin. Moreover, point mutations leading to amino acid substitution in the EPHA2 gene are identified from patients bearing mono-allelic mutation of SLC26A4. Ephrin-B2 binds to EphA2 triggering internalization with pendrin inducing EphA2 autophosphorylation weakly. The identified EphA2 mutants attenuate ephrin-B2- but not ephrin-A1-induced EphA2 internalization with pendrin. Our results uncover an unexpected role of the Eph/ephrin system in epithelial function.
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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.