(Q33979710)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Chen Pei-jer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Ying-Chang Lu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Wen-Sheng Shen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ting-Hua Yang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Te-Huei Yeh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

I-Shing Yu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jau-Min Wong

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Qing Chang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Xi Lin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Chuan-Jen Hsu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Shu-Wha Lin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

21 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

e22150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

9 February 2020

copyright license

start time

21 July 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Two missense mutations in SLC26A4 gene: a molecular and functional study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Delineating the hearing loss in children with enlarged vestibular aqueduct

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Genotype-phenotype correlations for SLC26A4-related deafness.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

GJB2 mutations and degree of hearing loss: a multicenter study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Pathologic changes of presbycusis begin in secondary processes and spread to primary processes of strial marginal cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Expression and localization of prestin and the sugar transporter GLUT-5 during development of electromotility in cochlear outer hair cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

A mutation in PDS causes non-syndromic recessive deafness

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Strial atrophy in clinical and experimental deafness.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Mice deficient in collapsin response mediator protein-1 exhibit impaired long-term potentiation and impaired spatial learning and memory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0022150

Common clinical features of children with enlarged vestibular aqueduct and Mondini dysplasia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141011

Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21811566

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0022150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21811566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

21811566

1 reference