Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
about
PDZD7 and hearing loss: More than just a modifierDeletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice.A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patientsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Localization of kainate receptors in inner and outer hair cell synapsesAccurate label-free protein quantitation with high- and low-resolution mass spectrometers.Molecular architecture of the chick vestibular hair bundleGenetics of auditory mechano-electrical transduction.Adaptation of mammalian auditory hair cell mechanotransduction is independent of calcium entry.Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.MALDI imaging mass spectrometry to investigate endogenous peptides in an animal model of Usher's disease.CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI.Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.PDZD7-MYO7A complex identified in enriched stereocilia membranes.Usher protein functions in hair cells and photoreceptors.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.Adhesion GPCR-Related Protein Networks.Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein modelsThe roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.Identification of Binding Partners of Deafness-Related Protein PDZD7.
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P2860
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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name
Localization of PDZD7 to the s ...... Usher syndrome protein network
@ast
Localization of PDZD7 to the s ...... Usher syndrome protein network
@en
type
label
Localization of PDZD7 to the s ...... Usher syndrome protein network
@ast
Localization of PDZD7 to the s ...... Usher syndrome protein network
@en
prefLabel
Localization of PDZD7 to the s ...... Usher syndrome protein network
@ast
Localization of PDZD7 to the s ...... Usher syndrome protein network
@en
P2093
P2860
P921
P1476
Localization of PDZD7 to the s ...... Usher syndrome protein network
@en
P2093
Bechara Kachar
James Green
Jung-Bum Shin
M'hamed Grati
Manzoor A Bhat
Michael D Weston
Peter G Gillespie
P2860
P304
14288-14293
P356
10.1523/JNEUROSCI.3071-12.2012
P407
P577
2012-10-01T00:00:00Z