(Q34516358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

title

Inner ear morphology is perturbed in two novel mouse models of recessive deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

author name string

Louise H Williams

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Elizabeth Rose

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Michael Kuiper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Hans-Henrik M Dahl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Shehnaaz S M Manji

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

language of work or name

English

0 references

publication date

12 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

e51284

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

20 February 2020

copyright license

start time

12 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice

1 reference

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Principles of unconventional myosin function and targeting

7 July 2018

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Cargo binding activates myosin VIIA motor function in cells

7 July 2018

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A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart.

7 July 2018

1 reference

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Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo

7 July 2018

1 reference

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A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells

7 July 2018

1 reference

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Function and expression pattern of nonsyndromic deafness genes

7 July 2018

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7 July 2018

Update on Usher syndrome

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ENU mutagenesis, a way forward to understand gene function

7 July 2018

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Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia

7 July 2018

1 reference

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MYO7A mutation screening in Usher syndrome type I patients from diverse origins

7 July 2018

1 reference

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Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

7 July 2018

1 reference

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The use of genomewide ENU mutagenesis screens to unravel complex mammalian traits: identifying genes that regulate organ-specific and systemic autoimmunity.

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Molecular genetics of non-syndromic deafness

7 July 2018

1 reference

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Molecular characterization and expression of maternally expressed gene 3 (Meg3/Gtl2) RNA in the mouse inner ear.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Scalable molecular dynamics with NAMD

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

ENU mutagenesis in the mouse: application to human genetic disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Human Nonsyndromic Sensorineural Deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Mouse models for deafness: lessons for the human inner ear and hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

The molecular genetics of Usher syndrome

7 July 2018

1 reference

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

7 July 2018

1 reference

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

7 July 2018

1 reference

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Mouse models for human deafness: current tools for new fashions

7 July 2018

1 reference

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Human non-synonymous SNPs: server and survey

7 July 2018

1 reference

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The human genome browser at UCSC

7 July 2018

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Accounting for human polymorphisms predicted to affect protein function

7 July 2018

1 reference

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7 July 2018

The myosin power stroke

1 reference

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

7 July 2018

1 reference

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Molecular genetics of hearing loss

7 July 2018

1 reference

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Cryoembedding and sectioning of cochleas for immunocytochemistry and in situ hybridization

7 July 2018

1 reference

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The societal costs of severe to profound hearing loss in the United States

7 July 2018

1 reference

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7 July 2018

1 reference

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Mutation analysis of the mouse myosin VIIA deafness gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

7 July 2018

1 reference

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Mouse models of human disease. Part I: techniques and resources for genetic analysis in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Genes responsible for human hereditary deafness: symphony of a thousand

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

VMD: visual molecular dynamics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Defective myosin VIIA gene responsible for Usher syndrome type 1B

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Morphological changes of cochlea in a strain of new-mutant mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Genetic epidemiology of hearing impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Ultrastructural findings in the inner ear of Jackson shaker mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3520982

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051284

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051284

Phenotype-driven mouse ENU mutagenesis screens

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051284

Recognition of genes in DNA sequence with ambiguities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051284

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0051284

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23251483

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0051284

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

23251483

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23251483%20AND%20SRC:MED&resulttype=core&format=json