(Q28505655)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse (English)

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

Glutaredoxin, cysteine rich 1

17 January 2020

main subject

1 reference

GOA release 2020-03-11

author

Linda M Peters

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Nicholas Allen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Hossein Najmabadi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

James R Bartles

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Richard J Smith

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

3

Inna A Belyantseva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

17

Thomas B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

13

Saima Riazuddin

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

6

Lili Zheng

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

20

David C Kohrman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

Hela Azaiez

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

15

Yehoash Raphael

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Hana Odeh

1

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Nobuko Hagiwara

9

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Kristina L Hunker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Matthew R Avenarius

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Leona H Gagnon

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Michael J Skynner

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Murray H Brilliant

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Kenneth R Johnson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

4 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 January 2020

published in

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

86

2 references

24 January 2017

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17 January 2020

issue

2

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

148-160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Dynamic length regulation of sensory stereocilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

PICOT attenuates cardiac hypertrophy by disrupting calcineurin-NFAT signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Glutaredoxins: glutathione-dependent redox enzymes with functions far beyond a simple thioredoxin backup system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Zinc fingers--folds for many occasions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Initial sequencing and comparative analysis of the mouse genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Transient expression of the t-isoform of plastins/fimbrin in the stereocilia of developing auditory 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=2820167

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

The human genome browser at UCSC

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

The Ensembl genome database project

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

A membrane protein enriched in endoplasmic reticulum exit sites interacts with COPII

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Hair cells in the inner ear of the pirouette and shaker 2 mutant 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=2820167

Initial sequencing and analysis of the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Identification, characterization, and crystal structure of the Omega class glutathione transferases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Zn2+-binding and molecular determinants of tetramerization in voltage-gated K+ channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Prediction of complete gene structures in human genomic DNA

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Thioredoxin and glutaredoxin systems

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Enhanced genome annotation using structural profiles in the program 3D-PSSM

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

CDD: a curated Entrez database of conserved domain alignments

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Mechanotransduction by hair cells: models, molecules, and mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Linking genes underlying deafness to hair-bundle development 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=2820167

Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Quiet as a mouse: dissecting the molecular and genetic basis of 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=2820167

The co-workers of actin filaments: from cell structures to signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Cellular regulation by hydrogen peroxide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Structure-function analysis of yeast Grx5 monothiol glutaredoxin defines essential amino acids for the function of the 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=2820167

Reactive oxygen species and signal transduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Antioxidant function of thioredoxin and glutaredoxin systems

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Parallel actin bundles and their multiple actin-bundling 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=2820167

Redox signaling: hydrogen peroxide as intracellular messenger

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Development of the auditory receptors of the rat: a SEM study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Crystal structure of thioltransferase at 2.2 A resolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Actin filaments in sensory hairs of inner ear receptor 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=2820167

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Postnatal development of the hamster cochlea. II. Growth and differentiation of stereocilia bundles

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Developmental morphology of the mouse inner ear. A scanning electron microscopic observation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Actin filaments, stereocilia, and hair cells of the bird cochlea. IV. How the actin filaments become organized in developing stereocilia and in the cuticular plate.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Actin filaments, stereocilia, and hair cells of the bird cochlea. III. The development and differentiation of hair cells and stereocilia.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Balanced levels of Espin are critical for stereociliary growth and length maintenance.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Development and properties of stereociliary link types in hair cells of the mouse cochlea

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Transgenic mice ubiquitously expressing human placental alkaline phosphatase (PLAP): an additional reporter gene for use in tandem with beta-galactosidase (lacZ).

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Immunohistochemical localization of several cytoskeletal proteins in inner ear sensory and supporting cells

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2820167

Rapid renewal of auditory hair bundles

27 November 2018

1 reference

12 December 2020

Linkage studies with the pirouette gene in the mouse

1 reference

12 December 2020

Nonneuronal expression of the GABA(A) beta3 subunit gene is required for normal palate development in mice

1 reference

12 December 2020

Linkage Groups III and XVII in the Mouse and the Position of the Light-Ear Locus

1 reference

12 December 2020

10.1016/J.AJHG.2010.01.016

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20137774%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

2 references

24 January 2017