Usher syndrome: molecular links of pathogenesis, proteins and pathways (Q36599315)

15 August 2017

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title

Usher syndrome: molecular links of pathogenesis, proteins and pathways (English)

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15 August 2017

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1

Hannie Kremer

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15 August 2017

Erwin van Wijk

2

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15 August 2017

Tina Märker

series ordinal

3

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15 August 2017

Uwe Wolfrum

series ordinal

4

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15 August 2017

Ronald Roepman

series ordinal

5

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15 August 2017

1 October 2006

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15 August 2017

Human Molecular Genetics

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15 August 2017

15 Spec No 2

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15 August 2017

R262-70

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Prevalence and geographical distribution of Usher syndrome in Germany.

15 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Genetic epidemiological studies of early-onset deafness in the U.S. school-age population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The molecular genetics of Usher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Interactions in the network of Usher syndrome type 1 proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

ELM server: A new resource for investigating short functional sites in modular eukaryotic proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

PDZ motifs in PTP-BL and RIL bind to internal protein segments in the LIM domain protein RIL.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Unconventional myosin VIIA is a novel A-kinase-anchoring protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Drosophila myosin VIIA is a high duty ratio motor with a unique kinetic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The predicted coiled-coil domain of myosin 10 forms a novel elongated domain that lengthens the head.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Characterization of the motor activity of mammalian myosin VIIA

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Molecular basis of mechanosensory transduction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Mechanoelectrical transduction by hair cells.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Genetic insights into the morphogenesis of inner ear hair cells.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Mechanisms that regulate mechanosensory hair cell differentiation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Development and properties of stereociliary link types in hair cells of the mouse cochlea

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Cadherin 23 is a component of the tip link in hair-cell stereocilia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Recent progress towards understanding the synaptic ribbon

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

PDZ domains in synapse assembly and signalling

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Distribution of members of the PSD-95 family of MAGUK proteins at the synaptic region of inner and outer hair cells of the guinea pig cochlea

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Synaptic transmission at retinal ribbon synapses

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

PDZ domain proteins of synapses

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Myo3A, one of two class III myosin genes expressed in vertebrate retina, is localized to the calycal processes of rod and cone photoreceptors and is expressed in the sacculus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Transmembrane linkage of fibronectin to intracellular actin-containing filaments in cultured human fibroblasts

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Isolation of an actin-binding fragment of fibronectin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Structure of integrin, a glycoprotein involved in the transmembrane linkage between fibronectin and actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

A human homologue of Drosophila kelch associates with myosin-VIIa in specialized adhesion junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Scaffolding of Keap1 to the actin cytoskeleton controls the function of Nrf2 as key regulator of cytoprotective phase 2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

When size matters: the dynamic regulation of stereocilia lengths

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticity

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Integrins regulate VE-cadherin and catenins: dependence of this regulation on Src, but not on Ras.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Deconstructing the cadherin-catenin-actin complex

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Alpha-catenin is a molecular switch that binds E-cadherin-beta-catenin and regulates actin-filament assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

DOCK4, a GTPase activator, is disrupted during tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Localized stabilization of microtubules by integrin- and FAK-facilitated Rho signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Cooperation between microtubule- and actin-based motor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Ultrastructure of connecting cilia in different forms of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

The centrosome in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

oko meduzy and related crumbs genes are determinants of apical cell features in the vertebrate embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL205

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL205

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15 August 2017

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