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

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

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

http://www.wikidata.org/entity/Q24293479

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Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction The candidate splicing factor Sfswap regulates growth and patterning of inner ear sensory organs The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.Finding new genes for non-syndromic hearing loss through an in silico prioritization study Early growth response protein 1 regulates promoter activity of α-plasma membrane calcium ATPase 2, a major calcium pump in the brain and auditory system.Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.Extracellular divalent cations modulate aminoglycoside-induced hair cell death in the zebrafish lateral line Genetics of auditory mechano-electrical transduction.Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochlea The development, distribution and density of the plasma membrane calcium ATPase 2 calcium pump in rat cochlear hair cells.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.Separate and combined effects of Sod1 and Cdh23 mutations on age-related hearing loss and cochlear pathology in C57BL/6J mice.Calcium balance and mechanotransduction in rat cochlear hair cells The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.A preformed scleral search coil for measuring mouse eye movements.Monitoring intracellular calcium ion dynamics in hair cell populations with Fluo-4 AM.The plasma membrane Ca²+ ATPase and the plasma membrane sodium calcium exchanger cooperate in the regulation of cell calcium.Presynaptic control of glycine transporter 2 (GlyT2) by physical and functional association with plasma membrane Ca2+-ATPase (PMCA) and Na+-Ca2+ exchanger (NCX)Plasma membrane Ca-ATPases in the nervous system during development and ageing Plasma membrane calcium ATPases as novel candidates for therapeutic agent development Apical localization of PMCA2w/b is enhanced in terminally polarized MDCK cells Plasma membrane calcium pump (PMCA) isoform 4 is targeted to the apical membrane by the w-splice insert from PMCA2.A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.Alternative splice variants of plasma membrane calcium-ATPases in human corneal epithelium Deletion of the intestinal plasma membrane calcium pump, isoform 1, Atp2b1, in mice is associated with decreased bone mineral density and impaired responsiveness to 1, 25-dihydroxyvitamin D3.A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.Role of plasma membrane calcium ATPases in calcium clearance from olfactory sensory neurons.Calcium pumps in health and disease.Maintenance of neuronal size gradient in MNTB requires sound-evoked activity.The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism.Ca2+ homeostasis defects and hereditary hearing loss.The plasma membrane calcium pump in the hearing process: physiology and pathology.Ca2+ signalling in cardiovascular disease: the role of the plasma membrane calcium pumps.The plasma membrane calcium pump in health and disease.Neuronal calcium signaling: function and dysfunction.The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.Deletions and mutations in the acidic lipid-binding region of the plasma membrane Ca2+ pump: a study on different splicing variants of isoform 2.Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Central and Peripheral Nervous System Progenitors Derived from Human Pluripotent Stem Cells Reveal a Unique Temporal and Cell-Type Specific Expression of PMCAs.

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P2860

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

http://www.wikidata.org/entity/Q24293479

description

2007 nî lūn-bûn

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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2007 թվականի հունվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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P2860

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

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

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Regeneration of broken tip links and restoration of mechanical transduction in hair cells.

Generation, control, and processing of cellular calcium signals

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

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

The concentrations of calcium buffering proteins in mammalian cochlear hair cells

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

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

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