Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2024 24
2025 35
2026 6

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

60 results

Results by year

Filters applied: . Clear all
Page 1
Reevaluation of Enlarged Vestibular Aqueduct.
Huang S, Gao X, Jiang Y, Guo C, Li X, Wang G, Han M, Zhang X, Yang S, Wang Q, Zhao C, Yang J, Kang D, Dai P, Yuan Y. Huang S, et al. JAMA Otolaryngol Head Neck Surg. 2025 Nov 1;151(11):1046-1056. doi: 10.1001/jamaoto.2025.2866. JAMA Otolaryngol Head Neck Surg. 2025. PMID: 41066100
Genetic analysis revealed that 2661 of 2774 patients (95.9%) carried biallelic SLC26A4 variants, with 70 (2.5%) attributable to copy number variants and 13 (0.5%) to a deep-intronic variant (c.304 + 941C>T) that affected splicing. ...
Genetic analysis revealed that 2661 of 2774 patients (95.9%) carried biallelic SLC26A4 variants, with 70 (2.5%) attributable to copy …
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P, Zhou B, Kang Q, Chen X, Tian X, Hui L, Hao S, Wu H, Zhang C. Ma P, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2434. doi: 10.1002/mgg3.2434. Mol Genet Genomic Med. 2024. PMID: 38860500 Free PMC article.
A total of 41 (11.33%) cases with the biallelic GJB2 (OMIM # 220290) gene mutations were detected, and 21 (5.80%) had biallelic SLC26A4 (OMIM # 605646) mutations. Mitochondrial gene (OMIM # 561000) mutations were detected in seven (1.93%) patients. ...
A total of 41 (11.33%) cases with the biallelic GJB2 (OMIM # 220290) gene mutations were detected, and 21 (5.80%) had biallelic SLC26A4 …
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct.
Tian Y, Liu M, Lu Y, Zhao X, Yan Z, Sun Y, Ma J, Tang W, Wang H, Xu H. Tian Y, et al. Hum Mutat. 2024 Oct 15;2024:8444122. doi: 10.1155/2024/8444122. eCollection 2024. Hum Mutat. 2024. PMID: 40225947 Free PMC article.
Enlarged vestibular aqueduct (EVA) is a frequently occurring inner ear malformation that associates with sensorineural hearing loss (SNHL), with SLC26A4 being the responsible gene. Based on multiplex PCR enrichment and sequencing of the exonic and flanking regions of the …
Enlarged vestibular aqueduct (EVA) is a frequently occurring inner ear malformation that associates with sensorineural hearing loss (SNHL), …
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M, Borecka S, Varga L, Bernardinelli E, Stanik J, Skopkova M, Sabo M, Ugorova D, Dossena S, Gasperikova D. Sklenar M, et al. Mol Med. 2025 May 27;31(1):208. doi: 10.1186/s10020-025-01262-x. Mol Med. 2025. PMID: 40426046 Free PMC article.
BACKGROUND: Pathogenic variants in the SLC26A4 gene, encoding for Cl(-)/HCO(3)(-) and I(-) anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). ...Functional characterization …
BACKGROUND: Pathogenic variants in the SLC26A4 gene, encoding for Cl(-)/HCO(3)(-) and I(-) anion transporter pendrin, are asso …
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T, Acharya A, Manyisa NR, Aboagye ET, Peigou Wonkam R, Xhakaza L, Popel K, de Kock C, Schrauwen I, Wonkam A, Leal SM. Bharadwaj T, et al. Clin Genet. 2025 Nov;108(5):511-520. doi: 10.1111/cge.14765. Epub 2025 May 15. Clin Genet. 2025. PMID: 40371963 Free PMC article.
For NSHI, 14 of 24 families segregated variants in NSHI genes, that is, CDH23, GJB2, MITF, MYO7A, MYO15A, PCDH15, POU3F4, REST, SLC26A4, TMPRSS3, and WFS1. For the 21 SHI families, 14 have Waardenburg syndrome, two Branchio-Oto-Renal syndromes, and one each with Bartter, C …
For NSHI, 14 of 24 families segregated variants in NSHI genes, that is, CDH23, GJB2, MITF, MYO7A, MYO15A, PCDH15, POU3F4, REST, SLC26A4 …
Inhibitors of the ubiquitin-proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.
Bernardinelli E, Jamontas R, Matulevičius A, Huber F, Nasser H, Klaus S, Zhu H, Gao J, Dossena S. Bernardinelli E, et al. Int J Mol Med. 2025 May;55(5):69. doi: 10.3892/ijmm.2025.5510. Epub 2025 Mar 7. Int J Mol Med. 2025. PMID: 40052591 Free PMC article.
Pendrin (SLC26A4) is an anion exchanger abundantly expressed in the inner ear, kidney and thyroid, and its malfunction resulting from genetic mutation leads to Pendred syndrome and non-syndromic deafness DFNB4. ...While ubiquitination at the C-terminus controls the …
Pendrin (SLC26A4) is an anion exchanger abundantly expressed in the inner ear, kidney and thyroid, and its malfunction resulti …
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants.
Vigouroux A, Glemain B, Torres R, Jonard L, Loundon N, Ferrary E, Mosnier I, Daoudi H, Marlin S, Lahlou G. Vigouroux A, et al. Otolaryngol Head Neck Surg. 2025 Nov;173(5):1215-1227. doi: 10.1002/ohn.1375. Epub 2025 Aug 4. Otolaryngol Head Neck Surg. 2025. PMID: 40760936 Free PMC article.
Consequently, more patients with SLC26A4 biallelic alterations received a CI (19/22 vs 17/31, P = .015) and at an earlier age (18 12.5 yo vs 34 18.9 yo, P = .009). ...CONCLUSION: The auditory phenotype of patients with bilateral enlarged vestibular aqueduct is variable …
Consequently, more patients with SLC26A4 biallelic alterations received a CI (19/22 vs 17/31, P = .015) and at an earlier age (18 1 …
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B. Shadab M, et al. Mol Diagn Ther. 2025 Jul;29(4):519-537. doi: 10.1007/s40291-025-00782-w. Epub 2025 May 16. Mol Diagn Ther. 2025. PMID: 40377830 Free PMC article.
RESULTS: We identified ten pathogenic, three likely pathogenic variants, and one variant of uncertain significance, comprising six nonsense, four missense, three frameshift, and one deep intronic variant, across ten hearing loss-associated genes (MYO15A, GJB2, SLC26A4, TMC …
RESULTS: We identified ten pathogenic, three likely pathogenic variants, and one variant of uncertain significance, comprising six nonsense, …
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A, Schrauwen I, Traoré O, Bamba S, Aboagye ET, Acharya A, Bharadwaj T, Latanich R, Esoh K, Fortes-Lima CA, de Kock C, Jonas M, Maiga ADB, Cissé CAK, Sangaré MA, Guinto CO, Landouré G, Leal SM, Wonkam A. Yalcouyé A, et al. HGG Adv. 2025 Jan 9;6(1):100391. doi: 10.1016/j.xhgg.2024.100391. Epub 2024 Dec 10. HGG Adv. 2025. PMID: 39663698 Free PMC article.
Overall, 75% of families (18/24) were solved, and 94.4% (17/18) had variants in known HI genes including MYO15A, CDH23, MYO7A, GJB2, SLC26A4, PJVK, OTOGL, TMC1, CIB2, GAS2, PDCH15, and EYA1. A digenic inheritance (CDH23 and PDCH15) was found in one family. ...
Overall, 75% of families (18/24) were solved, and 94.4% (17/18) had variants in known HI genes including MYO15A, CDH23, MYO7A, GJB2, SLC2 …
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E, Liuni R, Jamontas R, Tesolin P, Morgan A, Girotto G, Roesch S, Dossena S. Bernardinelli E, et al. Mol Med. 2025 Mar 22;31(1):111. doi: 10.1186/s10020-025-01159-9. Mol Med. 2025. PMID: 40121402 Free PMC article.
BACKGROUND: The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and nonsyndrom …
BACKGROUND: The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in th …
60 results