(Q34552548)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

title

Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Thomas B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Kevin Isgrig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Inna A Belyantseva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Meghan C Drummond

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Tracy S Fitzgerald

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Sarath Vijayakumar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Sherri M Jones

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Andrew J Griffith

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Wade W Chien

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

publication date

21 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

volume

1 reference

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4 April 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

page(s)

780-791

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.

4 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient 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=5363211

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler 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=5363211

Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Tmc gene therapy restores auditory function in deaf 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=5363211

Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Perilymph Kinetics of FITC-Dextran Reveals Homeostasis Dominated by the Cochlear Aqueduct and Cerebrospinal Fluid.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Gene therapy for sensorineural 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=5363211

Adeno-associated virus-mediated gene transfer targeting normal and traumatized mouse utricle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Systemic lipopolysaccharide compromises the blood-labyrinth barrier and increases entry of serum fluorescein into the perilymph.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Measuring motor coordination 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=5363211

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human 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=5363211

Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Gene transfer targeting mouse vestibule using adenovirus and adeno-associated virus vectors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Genetic disorders of the vestibular system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Selective atonal gene delivery improves balance function in a mouse model of vestibular 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=5363211

Usher syndrome: hearing loss with vision 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=5363211

Adeno-associated virus-mediated gene delivery into the scala media of the normal and deafened adult mouse 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=5363211

Mechanisms of vestibular compensation: recent advances

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Disorders of balance and vestibular function in US adults: data from the National Health and Nutrition Examination Survey, 2001-2004.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Gene therapy using adeno-associated virus vectors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural 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=5363211

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive 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=5363211

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

The prevalence of Usher syndrome and other retinal dystrophy‐hearing impairment associations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Usher's Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Vestibular hair cell regeneration and restoration of balance function induced by math1 gene transfer

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Prevalence and geographical distribution of Usher syndrome in Germany

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

The functional and structural outcome of inner ear gene transfer via the vestibular and cochlear fluids in mice

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Geriatric falls: injury severity is high and disproportionate to mechanism

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

Morphological changes in the cochlea of the mouse after the onset of hearing

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363211

The cost and frequency of hospitalization for fall-related injuries in older adults

27 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2017.01.007

WHIRLER MICE: A RECESSIVE BEHAVIOR MUTATION IN LINKAGE GROUP VIII

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2017.01.007

Non-USH2A mutations in USH2 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2017.01.007

Stimulus and recording variables and their effects on mammalian vestibular evoked potentials

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMTHE.2017.01.007

10.1016/J.YMTHE.2017.01.007

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

release_haxmexgx6jdh7h6z4udanjwdma

4 April 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/haxmexgx6jdh7h6z4udanjwdma

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

PubMed publication ID

28254438

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28254438%20AND%20SRC:MED&resulttype=core&format=json