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Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Usami SI, Isaka Y, Miyagawa M, Nishio SY. Usami SI, et al. Hum Genet. 2022 Apr;141(3-4):903-914. doi: 10.1007/s00439-022-02431-2. Epub 2022 Jan 12. Hum Genet. 2022. PMID: 35020051 Free PMC article.
Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). ...The present results reconfirmed that the variants in CDH23 are an important cause of non-syndromic sens …
Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndro …
Disruption of Cdh23 exon 68 splicing leads to progressive hearing loss in mice by affecting tip-link stability.
Li N, Liu S, Zhao D, Du H, Xi Y, Wei X, Liu Q, Müller U, Lu Q, Xiong W, Xu Z. Li N, et al. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2309656121. doi: 10.1073/pnas.2309656121. Epub 2024 Feb 26. Proc Natl Acad Sci U S A. 2024. PMID: 38408254 Free PMC article.
The Cdh23 gene is composed of 69 exons, and we show here that exon 68 is subjected to hair cell-specific alternative splicing. ...Moreover, we show that the cytoplasmic tail of CDH23(+68) but not CDH23(-68) cooperates with harmonin in phase separation-mediate …
The Cdh23 gene is composed of 69 exons, and we show here that exon 68 is subjected to hair cell-specific alternative splicing. ...Mor …
cdh23 affects congenital hearing loss through regulating purine metabolism.
Yang S, Xie BL, Dong XP, Wang LX, Zhu GH, Wang T, Wu WJ, Lai RS, Tao R, Guan MX, Chen FY, Tan DH, Deng Z, Xie HP, Zeng Y, Xiao ZA, Xie DH. Yang S, et al. Front Mol Neurosci. 2023 Jul 27;16:1079529. doi: 10.3389/fnmol.2023.1079529. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37575969 Free PMC article.
INTRODUCTION: The pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. ...METHODS: In this study, a congenital deafness family, whole exome sequencing revealed a new mutation in the pathogenic …
INTRODUCTION: The pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction …
Usher Syndrome.
Castiglione A, Möller C. Castiglione A, et al. Audiol Res. 2022 Jan 11;12(1):42-65. doi: 10.3390/audiolres12010005. Audiol Res. 2022. PMID: 35076463 Free PMC article. Review.
To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. ...
To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, P …
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Odell AM, Smith RJH. Shearer AE, et al. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301607 Free Books & Documents. Review.
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Khorram E, Iravani O, Khorrami M, Amini M, Jahanian S, Nilforoush MH, Mousavi SR, Ehsanifard M, Kheirollahi M. Khorram E, et al. Audiol Neurootol. 2023;28(4):317-326. doi: 10.1159/000529420. Epub 2023 Apr 21. Audiol Neurootol. 2023. PMID: 37088079 Review.
RESULTS: Whole-exome data analysis revealed a novel bi-allelic nonsense variant (c.6562G>T; p.Glu2188Ter) in the CDH23 gene, which was confirmed by Sanger sequencing. Surprisingly, CDH23 is a member of the USH1 genes; therefore, our patients suffered from aty …
RESULTS: Whole-exome data analysis revealed a novel bi-allelic nonsense variant (c.6562G>T; p.Glu2188Ter) in the CDH23 gene, w …
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
de Guimaraes TAC, Robson AG, de Guimaraes IMC, Laich Y, Aychoua N, Wright G, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. de Guimaraes TAC, et al. Invest Ophthalmol Vis Sci. 2024 Jul 1;65(8):27. doi: 10.1167/iovs.65.8.27. Invest Ophthalmol Vis Sci. 2024. PMID: 39017633 Free PMC article.
PURPOSE: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D). METHODS: Molecularly-confirmed individuals had data extracted from medical records. ...RESULTS: Thirty-one patients were identifi …
PURPOSE: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type I …
A CDH23 missense variant in Beauceron dogs with non-syndromic deafness.
Abitbol M, Jagannathan V, Lopez M, Courtin A, Dufaure de Citres C, Gache V, Leeb T. Abitbol M, et al. Anim Genet. 2023 Feb;54(1):73-77. doi: 10.1111/age.13273. Epub 2022 Oct 28. Anim Genet. 2023. PMID: 36308003 Free PMC article.
By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs we identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the …
By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs we identified a CDH23:c.700C&gt …
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 other retinal degeneration genes (CHM, CNGA1, EYS, PDE6B, and TULP1); and 1 nonsyndromic hearing loss gene (MYO15A) were identified, and 78 …
Overall, 132 distinct disease-causing mutations involving seven USH (ABHD12, CDH23, GPR98, MYO7A, PCDH15, USH1C, and USH2A) genes; 5 …
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
479 results