(Q28473896)

22 June 2017

The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss (English)

1 reference

22 June 2017

1 reference

Martin Hrabě de Angelis

4

Martin Hrabé de Angelis

0 references

Mario Bortolozzi

Mario Bortolozzi

2

0 references

Fabio Mammano

Fabio Mammano

11

0 references

Marisa Brini

Marisa Brini

9

0 references

Ernesto Carafoli

Ernesto Carafoli

10

0 references

Karen Steel

12

Karen P Steel

1 reference

22 June 2017

3

Francesca Di Leva

1 reference

22 June 2017

7

Saida Ortolano

1 reference

22 June 2017

6

Dmitry Lim

1 reference

22 June 2017

Sarah L Spiden

1

1 reference

22 June 2017

Helmut Fuchs

5

1 reference

22 June 2017

Neil J Ingham

8

1 reference

22 June 2017

language of work or name

English

0 references

publication date

31 October 2008

1 reference

22 June 2017

1 reference

22 June 2017

4

1 reference

22 June 2017

10

1 reference

22 June 2017

e1000238

1 reference

Creative Commons Attribution 4.0 International

22 June 2017

start time

31 October 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

3p-- syndrome defines a hearing loss locus in 3p25.3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

A de novo deafwaddler mutation of Pmca2 arising in ES cells and hitchhiking with a targeted modification of the Pparg gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Evaluation of inner ear histology and auditory brainstem response in Wriggle Mouse Sagami

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Cloning and expression of isoform 2 of the human plasma membrane Ca2+ ATPase. Functional properties of the enzyme and its splicing products

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Molecular determinants for differential membrane trafficking of PMCA1 and PMCA2 in mammalian hair cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

A point mutation in a plasma membrane Ca(2+)-ATPase gene causes deafness in Wriggle Mouse Sagami

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Splice-site A choice targets plasma-membrane Ca2+-ATPase isoform 2 to hair bundles

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Low endolymph calcium concentrations in deafwaddler2J mice suggest that PMCA2 contributes to endolymph calcium maintenance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural 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=2568954

Characterization of the deafwaddler mutant of the rat plasma membrane calcium-ATPase 2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Effects of PMCA2 mutation on DPOAE amplitudes and latencies in deafwaddler mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Single amino acid mutations in transmembrane domain 5 confer to the plasma membrane Ca2+ pump properties typical of the Ca2+ pump of endo(sarco)plasmic reticulum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Automated detection of point mutations using fluorescent sequence trace subtraction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

The Prevalence of Hearing Impairment and Reported Hearing Disability among Adults in Great Britain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Location of high affinity Ca2+-binding sites within the predicted transmembrane domain of the sarcoplasmic reticulum Ca2+-ATPase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

The Ca2+ pump of the plasma membrane

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Very low calcium content of cochlear endolymph, an extracellular fluid

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

A technique for preparation of cochlear specimens for assessment with the scanning electron microscope

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Plasma membrane Ca2+ pump isoforms 2a and 2b are unusually responsive to calmodulin and Ca2+.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Identification and cloning of site C splice variants of plasma membrane Ca-ATPase in the gerbil cochlea

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Cochlear pathology in presbycusis.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

Sensory and Neural Degeneration with Aging, as Seen in Microdissections of the Human Inner Ear

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2568954

A comparative functional analysis of plasma membrane Ca2+ pump isoforms in intact cells

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000238

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000238

Transfected aequorin in the measurement of cytosolic Ca2+ concentration ([Ca2+]c). A critical evaluation.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000238

Two residues that may ligate Ca2+ in transmembrane domain six of the plasma membrane Ca(2+)-ATPase

21 January 2018

1 reference

12 December 2020

[30] Photoprotein-mediated measurement of calcium ion concentration in mitochondria of living cells

1 reference

12 December 2020

Plasma membrane Ca2+-ATPase extrudes Ca2+ from hair cell stereocilia

1 reference

12 December 2020

Evidence for differential regulation of calcium by outer versus inner hair cells: plasma membrane Ca-ATPase gene expression

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000238

Identifiers

DOI

1 reference

22 June 2017

0 references

1 reference