(Q27341241)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Hossein Najmabadi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Richard J Smith

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Kevin T Booth

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Hela Azaiez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Allen C Simpson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

William T A Tollefson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Christina M Sloan

6

1 reference

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3 June 2020

Nicole C Meyer

7

1 reference

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3 June 2020

Mojgan Babanejad

8

1 reference

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3 June 2020

Fariba Ardalani

9

1 reference

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3 June 2020

Sanaz Arzhangi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Michael J Schnieders

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

3 June 2020

language of work or name

English

0 references

publication date

December 2015

0 references

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

167A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

12

1 reference

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3 June 2020

page(s)

2957-2965

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

A smoothed backbone-dependent rotamer library for proteins derived from adaptive kernel density estimates and regressions

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Characterization of transcriptomes of cochlear inner and outer hair cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

The physiology of mechanoelectrical transduction channels in hearing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Copy number variants are a common cause of non-syndromic hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Therapy strategies for Usher syndrome Type 1C in the retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

The Polarizable Atomic Multipole-based AMOEBA Force Field for Proteins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Usher proteins in inner ear structure and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Polarizable Atomic Multipole-based Molecular Mechanics for Organic Molecules

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Predicting functional alternative splicing by measuring RNA selection pressure from multigenome alignments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

An update on the genetics of usher syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4741280

Rescue from hearing loss in Usher's syndrome.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37274

Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37274

Expressivity of hearing loss in cases with Usher syndrome type IIA.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.37274

Fighting blindness of Usher syndrome: diagnosis, pathogenesis, and retinal treatment (TreatRetUsher) (TREATRUSH)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26416264

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26416264

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.37274

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26416264%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

26416264

2 references