Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
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Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencingEffects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains.Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice.Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortiumComprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics ConsortiumDiverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyHigh prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencingNon-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.Differential gene expression in ERα-positive and ERα-negative breast cancer cells upon leptin stimulation.Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
P2860
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P2860
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
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2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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name
Prevalence and clinical featur ...... utations: a large cohort study
@nl
Prevalence and clinical featur ...... tations: a large cohort study.
@ast
Prevalence and clinical featur ...... tations: a large cohort study.
@en
type
label
Prevalence and clinical featur ...... utations: a large cohort study
@nl
Prevalence and clinical featur ...... tations: a large cohort study.
@ast
Prevalence and clinical featur ...... tations: a large cohort study.
@en
prefLabel
Prevalence and clinical featur ...... utations: a large cohort study
@nl
Prevalence and clinical featur ...... tations: a large cohort study.
@ast
Prevalence and clinical featur ...... tations: a large cohort study.
@en
P2860
P3181
P1433
P1476
Prevalence and clinical featur ...... utations: a large cohort study
@en
P2093
Maiko Miyagawa
Shin-ichi Usami
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0040366
P407
P577
2012-08-10T00:00:00Z