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 NCBI Filters

Results by year

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

Year Number of Results
1993 1
1999 1
2000 1
2001 9
2002 7
2003 9
2004 5
2005 11
2006 9
2007 7
2008 11
2009 11
2010 17
2011 10
2012 16
2013 9
2014 14
2015 17
2016 21
2017 20
2018 18
2019 24
2020 43
2021 40
2022 31
2023 21
2024 15

Text availability

Article attribute

Article type

Publication date

Search Results

346 results

Results by year

Filters applied: . Clear all
Page 1
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 suf …
RESULTS: Whole-exome data analysis revealed a novel bi-allelic nonsense variant (c.6562G>T; p.Glu2188Ter) in the CDH23 gene …
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). ...In addition, we showed that the mutational spectrum in the Japanese population, which is probably repre …
Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non …
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.
USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when …
USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further di …
[Relationship research among CDH23 gene and the risk of noise-induced hearing loss].
Jiao J, Gu GZ, Chen GS, Zhang HL, Wu H, Li YH, Zhou WH, Yu SF. Jiao J, et al. Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2020 Feb 20;38(2):84-90. doi: 10.3760/cma.j.issn.1001-9391.2020.02.002. Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2020. PMID: 32306668 Chinese.
Objective: To explore the relationship among CDH23 gene variation and the risk of noise-induced hearing loss (NIHL) . ...GMDR analysis showed no association between SNP combination and NIHL risk after adjusting CNE, smoking, drinking, physical exercise and blood pre …
Objective: To explore the relationship among CDH23 gene variation and the risk of noise-induced hearing loss (NIHL) . ...GMDR …
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. ...Then CRISPR/Cas9 technology was employed to knockout zebrafish cdh23 gene. Startle response exper …
INTRODUCTION: The pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transd …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be involved. The frequency of mutations in each gene and the most frequent mutations vary …
Hearing impairment not etiologically associated with clinical signs in other organs (non-syndromic) is genetically heterogeneous, so that ov …
A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice.
Liu S, Li S, Zhu H, Cheng S, Zheng QY. Liu S, et al. Gene. 2012 May 15;499(2):309-17. doi: 10.1016/j.gene.2012.01.084. Epub 2012 Feb 4. Gene. 2012. PMID: 22326520 Free PMC article.
RT-PCR was performed to confirm the cdh23 mutation in Cdh23(nmf308/nmf308) mice and genetic analysis was used to map the specific mutation site. ...Cochlear histology was examined with scanning electron microscope (SEM) and transmission electron microscope (TEM), as …
RT-PCR was performed to confirm the cdh23 mutation in Cdh23(nmf308/nmf308) mice and genetic analysis was used to map the speci …
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.
These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the "Usher interactome". ...Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild …
These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the "Usher interactome". .. …
Role of an Atypical Cadherin Gene, Cdh23 in Prepulse Inhibition, and Implication of CDH23 in Schizophrenia.
Balan S, Ohnishi T, Watanabe A, Ohba H, Iwayama Y, Toyoshima M, Hara T, Hisano Y, Miyasaka Y, Toyota T, Shimamoto-Mitsuyama C, Maekawa M, Numata S, Ohmori T, Shimogori T, Kikkawa Y, Hayashi T, Yoshikawa T. Balan S, et al. Schizophr Bull. 2021 Jul 8;47(4):1190-1200. doi: 10.1093/schbul/sbab007. Schizophr Bull. 2021. PMID: 33595068 Free PMC article.
The highest logarithm of odds score (26.66) peaked at a synonymous coding and splice-site variant, c.753G>A (rs257098870), in the Cdh23 gene on chromosome 10; the c.753G (C3H) allele showed a PPI-lowering effect. ...We also identified multiple potentially deleter …
The highest logarithm of odds score (26.66) peaked at a synonymous coding and splice-site variant, c.753G>A (rs257098870), in the Cdh2 …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A. Delmaghani S, et al. Hum Genet. 2022 Apr;141(3-4):709-735. doi: 10.1007/s00439-022-02448-7. Epub 2022 Mar 30. Hum Genet. 2022. PMID: 35353227 Free PMC article. Review.
The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Pathogenic variants of nine USH genes …
The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and …
346 results