(Q30438411)

18 August 2017

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells (English)

1 reference

18 August 2017

1 reference

GOA release 2020-03-11

1 reference

1 reference

nonsyndromic deafness

1 reference

1 reference

Martin Schwander

1

1 reference

18 August 2017

Wei Xiong

2

1 reference

18 August 2017

Joshua Tokita

3

1 reference

18 August 2017

Andrea Lelli

4

1 reference

18 August 2017

Heather M Elledge

5

1 reference

18 August 2017

Piotr Kazmierczak

6

1 reference

18 August 2017

Anna Sczaniecka

7

1 reference

18 August 2017

Anand Kolatkar

8

1 reference

18 August 2017

Tim Wiltshire

9

1 reference

18 August 2017

Peter Kuhn

10

1 reference

18 August 2017

Jeffrey R Holt

11

1 reference

18 August 2017

Bechara Kachar

12

1 reference

18 August 2017

Lisa Tarantino

13

1 reference

18 August 2017

Ulrich Müller

14

1 reference

18 August 2017

language of work or name

English

0 references

publication date

6 March 2009

1 reference

Proceedings of the National Academy of Sciences of the United States of America

18 August 2017

1 reference

18 August 2017

106

1 reference

18 August 2017

13

1 reference

18 August 2017

5252-5257

1 reference

Cadherins and mechanotransduction by hair cells

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Comparative protein structure modeling using Modeller

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Stepwise morphological and functional maturation of mechanotransduction in rat outer hair cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Structure and mechanism of cadherins and catenins in cell-cell contacts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mechanism and dynamics of cadherin adhesion

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Interactions in the network of Usher syndrome type 1 proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Cadherin 23 is a component of the tip link in hair-cell stereocilia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

High-resolution structure of hair-cell tip links

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

T-Coffee: A novel method for fast and accurate multiple sequence alignment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

A type VII myosin encoded by the mouse deafness gene shaker-1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Cross-links between stereocilia in the guinea pig cochlea.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

Tip-link integrity and mechanical transduction in vertebrate hair cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2664065

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

20 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Haplotype analysis of the USH1D locus and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Clinical presentation of DFNB12 and Usher syndrome type 1D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

p19(Ink4d) and p21(Cip1) collaborate to maintain the postmitotic state of auditory hair cells, their codeletion leading to DNA damage and p53-mediated apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0900691106

Morphological correlates of mechanotransduction in acousticolateral hair cells

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19270079

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0900691106

1 reference

18 August 2017

0 references

1 reference

18 August 2017

1 reference