Genetic disorders of transporters/channels in the inner ear and their relation to the kidney. (Q35886710)

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1 January 2020

review article

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title

Genetic disorders of transporters/channels in the inner ear and their relation to the kidney (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365806 AND SRC:MED&resulttype=core&format=json

1 January 2020

1

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1 January 2020

author name string

Leo A H Monnens

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365806 AND SRC:MED&resulttype=core&format=json

1 January 2020

Cor W R J Cremers

series ordinal

3

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1 January 2020

Jo H A J Curfs

series ordinal

4

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1 January 2020

publication date

9 September 2004

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1 January 2020

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1 January 2020

volume

19

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issue

11

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1 January 2020

page(s)

1194-1201

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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

1 January 2020

cites work

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12 December 2020

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

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12 December 2020

Localization of pH regulating proteins H ATPase and exchanger in the guinea pig inner ear

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12 December 2020

Changes in ultrastructural characteristics of endolymphatic sac ribosome-rich cells of the rat during development

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12 December 2020

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

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12 December 2020

Barttin increases surface expression and changes current properties of ClC-K channels

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12 December 2020

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

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12 December 2020

Morphology of auditory hair cells in guinea pig cochlea after transgene expression

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12 December 2020

Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter

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12 December 2020

Ototoxicity of loop diuretics.

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12 December 2020

Sodium-potassium-chloride cotransport

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12 December 2020

Contribution of the Na -K -2Cl- cotransporter NKCC1 to Cl- secretion in rat OMCD.

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12 December 2020

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

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12 December 2020

Immunolocalization of ClC-K chloride channel in strial marginal cells and vestibular dark cells

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12 December 2020

Mechanisms of endolymph secretion

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12 December 2020

Location and function of the epithelial Na channel in the cochlea.

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12 December 2020

Impaired hearing in mice lacking aquaporin-4 water channels

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12 December 2020

Mice lacking the B1 subunit of H -ATPase have normal hearing

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12 December 2020

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

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12 December 2020

K cycling and the endocochlear potential

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12 December 2020

K( ) cycling and its regulation in the cochlea and the vestibular labyrinth

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12 December 2020

Gene transfer into supporting cells of the organ of Corti

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12 December 2020

Differences in endolymphatic sac mitochondria-rich cells indicate specific functions.

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12 December 2020

Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells

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12 December 2020

Mutations in the gene encoding B1 subunit of H -ATPase cause renal tubular acidosis with sensorineural deafness

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12 December 2020

Identification of mRNA transcripts and immunohistochemical localization of Na/H exchanger isoforms in gerbil inner ear.

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12 December 2020

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

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12 December 2020

Inter- and intracompartmental osmotic gradients within the rat cochlea

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12 December 2020

The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.

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12 December 2020

Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3

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12 December 2020

Localization of pendrin in mouse kidney

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12 December 2020

Renal and intestinal absorptive defects in mice lacking the NHE3 Na /H exchanger

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12 December 2020

Advances in hereditary deafness

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12 December 2020

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

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12 December 2020

Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

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12 December 2020

Salt wasting and deafness resulting from mutations in two chloride channels

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12 December 2020

Distribution and features of melanocytes during inner ear development in pigmented and albino rats

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12 December 2020

Regulation of the apical Cl-/HCO-3 exchanger pendrin in rat cortical collecting duct in metabolic acidosis

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12 December 2020

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

1 reference

12 December 2020

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues

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12 December 2020

Occurrence of NaK-ATPase isoforms during rat inner ear development and functional implications

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12 December 2020

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K secretion

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12 December 2020

Inherited distal renal tubular acidosis.

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12 December 2020

Aquaporin-2 expression in the mammalian cochlea and investigation of its role in Meniere's disease

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12 December 2020

Identification of gene expression profiles in rat ears with cDNA microarrays

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12 December 2020

The endolymphatic sac: its roles in the inner ear

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12 December 2020

Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

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12 December 2020

Genetic causes of hearing loss

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12 December 2020

Genetic features of mitochondrial respiratory chain disorders

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12 December 2020

10.1007/S00467-004-1626-6

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15365806 AND SRC:MED&resulttype=core&format=json

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1 January 2020

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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