Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation (Q33967195)

30 July 2017

title

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

1 reference

30 July 2017

1 reference

9

Markus Paulmichl

0 references

Silvia Dossena

5

Silvia Dossena

0 references

Charity Nofziger

6

Charity Nofziger

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Martin Hrabě de Angelis

8

Martin Hrabé de Angelis

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Karen Avraham

Karen B Avraham

11

0 references

Amiel Dror

1 reference

ORCID Public Data File 2021

author name string

Amiel A Dror

1

1 reference

30 July 2017

Yael Politi

2

1 reference

30 July 2017

Hashem Shahin

3

1 reference

30 July 2017

Danielle R Lenz

4

1 reference

30 July 2017

Helmut Fuchs

7

1 reference

30 July 2017

Steve Weiner

10

1 reference

30 July 2017

language of work or name

English

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publication date

4 May 2010

1 reference

Journal of Biological Chemistry

30 July 2017

published in

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30 July 2017

volume

285

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30 July 2017

issue

28

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30 July 2017

page(s)

21724-21735

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Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Gene targeting reveals the role of Oc90 as the essential organizer of the otoconial organic matrix

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Assembly of the otoconia complex to the macular sensory epithelium of the vestibule

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Mixing model systems: using zebrafish and mouse inner ear mutants and other organ systems to unravel the mystery of otoconial development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Kidney stones: pathophysiology and medical management.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Retinoblastoma protein purification and transduction of retina and retinoblastoma cells using improved alphavirus vectors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Mechanism and molecular determinant for regulation of rabbit transient receptor potential type 5 (TRPV5) channel by extracellular pH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Diagnosis and management of benign paroxysmal positional vertigo (BPPV)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Regulated expression of pendrin in rat kidney in response to chronic NH4Cl or NaHCO3 loading.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Development and maintenance of otoconia: biochemical considerations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Unrecognized benign paroxysmal positional vertigo in elderly patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Mechanism and cellular applications of a green fluorescent protein-based halide sensor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Targeted disruption of otog results in deafness and severe imbalance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

The Pendred syndrome gene encodes a chloride-iodide transport protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Characterization of otoconin-95, the major protein of murine otoconia, provides insights into the formation of these inner ear biominerals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Otoconin-90, the mammalian otoconial matrix protein, contains two domains of homology to secretory phospholipase A2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Otogelin: a glycoprotein specific to the acellular membranes of the inner ear

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

P2 purinoceptor of the globular substance in the otoconial membrane of the guinea pig inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Effects of extracellular Ca2+ concentration on hair-bundle stiffness and gating-spring integrity in hair cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

A review of management of benign paroxysmal positional vertigo by exercise therapy and by repositioning manoeuvres

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Biological characteristics of the globular substance in the otoconial membrane of the guinea pig.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Otoconin-22, the major protein of aragonitic frog otoconia, is a homolog of phospholipase A2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Positional vertigo related to semicircular canalithiasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

5 July 2018

Development of otoconia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Histochemical localization of carbonic anhydrase in the inner ear.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Each otoconia polymorph has a protein unique to that polymorph

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

The canalith repositioning procedure: for treatment of benign paroxysmal positional vertigo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

Metabolic disorder of otoconia after streptomycin intoxication

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2898392

A CRYSTALLOGRAPHIC STUDY OF VERTEBRATE OTOLITHS

5 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Formation and fate of giant otoconia of the guinea pig following streptomycin intoxication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Theoretical models for the mechanisms of benign paroxysmal positional vertigo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

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/10.1074%2FJBC.M110.120188

Amorphous calcium carbonate transforms into calcite during sea urchin larval spicule growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

The otoconia of the guinea pig utricle: internal structure, surface exposure, and interactions with the filament matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

How can teleostean inner ear hair cells maintain the proper association with the accreting otolith?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Age-dependent changes in the expression of klotho protein, TRPV5 and TRPV6 in mouse inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Vitamin D upregulates expression of ECaC1 mRNA in semicircular canal

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Basic charge clusters and predictions of membrane protein topology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

ConSeq: the identification of functionally and structurally important residues in protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Temperature dependence of calcite dissolution kinetics between 1 and 62°C at pH 2.7 to 8.4 in aqueous solutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

Interactions of sea-urchin skeleton macromolecules with growing calcite crystals— a study of intracrystalline proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.120188

The Nature and Crystal Growth of Otoconia in the Rat

21 January 2018

1 reference

12 December 2020

Observations on normal and degenerating human otoconia

1 reference

12 December 2020

Calcium Ion Uptake and Exchange in Otoconia

1 reference

12 December 2020

Genes, manganese, and zinc in formation of otoconia: labeling, recovery, and maternal effects

1 reference

12 December 2020

HISTOCHEMICAL RECOGNITION OF CALCIUM OXALATE

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M110.120188

1 reference

30 July 2017

1 reference

30 July 2017

1 reference