Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype - Wikidata - wikimedia - TriplyDB

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

http://www.wikidata.org/entity/Q30524353

about

Physical and functional links between anion exchanger-1 and sodium pump Molecular mechanisms and regulation of urinary acidification KCNK5 channels mostly expressed in cochlear outer sulcus cells are indispensable for hearing The zebrafish merovingian mutant reveals a role for pH regulation in hair cell toxicity and function.Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear.Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.Colocalization of the (Pro)renin Receptor/Atp6ap2 with H+-ATPases in Mouse Kidney but Prorenin Does Not Acutely Regulate Intercalated Cell H+-ATPase Activity.Extra-renal locations of the a4 subunit of H(+)ATPase.Deficient acid handling with distal RTA in the NBCe2 knockout mouse.Regulation of luminal acidification by the V-ATPase.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis.Extracellular Adenosine Stimulates Vacuolar ATPase-Dependent Proton Secretion in Medullary Intercalated Cells.HNF1B controls epithelial organization and cell polarity during ureteric bud branching and collecting duct morphogenesis.Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts.Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.Characterization and Correction of Olfactory Deficits in Kidney Disease.Mouse Models of SLC4-linked Disorders of HCO3- Transporter Dysfunction.Targeted Deletion of the Ncoa7 Gene Results in Incomplete Distal Renal Tubular Acidosis in Mice.The curious case of vacuolar ATPase: regulation of signaling pathways.Vacuolar H+-ATPase: An Essential Multitasking Enzyme in Physiology and Pathophysiology

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Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

http://www.wikidata.org/entity/Q30524353

description

2012 nî lūn-bûn

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2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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Proceedings of the National Academy of Sciences of the United States of America

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Atp6v0a4 knockout mouse is a m ...... dditional extrarenal phenotype

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Beatriz Lorente-Cánovas

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Elizabeth E Norgett

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Fiona E Karet Frankl

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Karen P Steel

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Neil Ingham

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Zoe J Golder

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P2860

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

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

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

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis

Renal tubular acidosis: the clinical entity

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13775-13780

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10.1073/PNAS.1204257109

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109

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