Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
about
Life and death of sensory hair cells expressing constitutively active TRPML33p-- syndrome defines a hearing loss locus in 3p25.3The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIAEarly growth response protein 1 regulates promoter activity of α-plasma membrane calcium ATPase 2, a major calcium pump in the brain and auditory system.Disruption of intracellular calcium regulation is integral to aminoglycoside-induced hair cell deathTwo ENU-induced alleles of Atp2b2 cause deafness in mice.Calcium signaling in the cochlea - Molecular mechanisms and physiopathological implications.The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.Hair bundles are specialized for ATP delivery via creatine kinase.Compartment-specific regulation of plasma membrane calcium ATPase type 2 in the chick auditory brainstem.Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Scotopic visual signaling in the mouse retina is modulated by high-affinity plasma membrane calcium extrusion.The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han populationA new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.Maintenance of neuronal size gradient in MNTB requires sound-evoked activity.Contribution of plasma membrane Ca ATPase to cerebellar synapse functionCa2+ homeostasis defects and hereditary hearing loss.The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease.Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1.Changes in cochlear PMCA2 expression correlate with the maturation of auditory sensitivity.Reductions in motor unit number estimates (MUNE) precede motor neuron loss in the plasma membrane calcium ATPase 2 (PMCA2)-heterozygous mice.Reduced expression of the Ca(2+) transporter protein PMCA2 slows Ca(2+) dynamics in mouse cerebellar Purkinje neurones and alters the precision of motor coordination.Evidence for a role of plasma membrane calcium pumps in neurodegenerative disease: Recent developments.PMCA2w/a Splice Variant: A Key Regulator of Hair Cell Mechano-transduction Machinery
P2860
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P2860
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
description
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im September 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/09/01)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/09/01)
@nl
наукова стаття, опублікована у вересні 2004
@uk
مقالة علمية (نشرت في سبتمبر 2004)
@ar
name
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@ast
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@en
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@nl
type
label
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@ast
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@en
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@nl
prefLabel
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@ast
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@en
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@nl
P1433
P1476
Haplo-insufficiency revealed in deafwaddler mice when tested for hearing loss and ataxia
@en
P2093
Brendan J. McCullough
Bruce L. Tempel
P304
P356
10.1016/J.HEARES.2004.05.003
P577
2004-09-01T00:00:00Z