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Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2
scientific journal article
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scholarly article
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
title
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2
(English)
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
main subject
USH2 complex
1 reference
stated in
Gene Ontology release 2020-05-02
Gene Ontology ID
GO:1990696
Whirlin
1 reference
stated in
GOA release 2020-03-11
PDZ domain containing 7
1 reference
stated in
GOA release 2020-03-11
Usherin
1 reference
stated in
GOA release 2020-03-11
Adhesion G protein-coupled receptor V1
1 reference
stated in
GOA release 2020-03-11
Usher syndrome type 2
1 reference
based on heuristic
inferred from title
Usher syndrome
1 reference
based on heuristic
inferred from title
author name string
Qian Chen
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
Junhuang Zou
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
Zuolian Shen
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
Weiping Zhang
series ordinal
4
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
Jun Yang
series ordinal
5
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
language of work or name
English
0 references
publication date
26 December 2014
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
published in
Journal of Biological Chemistry
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
volume
289
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
issue
52
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
page(s)
36070–36088
1 reference
stated in
PubMed
PubMed ID
25406310
retrieved
31 January 2017
describes a project that uses
ImageJ
1 reference
stated in
Europe PubMed Central
retrieved
11 June 2022
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4276872/fullTextXML
based on heuristic
inferred from PubMed Central ID database lookup
cites work
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
The postsynaptic density proteins Homer and Shank form a polymeric network structure
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Domain Swapping within PDZ2 Is Responsible for Dimerization of ZO Proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Crystal structures of autoinhibitory PDZ domain of Tamalin: implications for metabotropic glutamate receptor trafficking regulation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Vlgr1 is required for proper stereocilia maturation of cochlear hair cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Crystal structure of the Shank PDZ-ligand complex reveals a class I PDZ interaction and a novel PDZ-PDZ dimerization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Crystal structure of GRIP1 PDZ6-peptide complex reveals the structural basis for class II PDZ target recognition and PDZ domain-mediated multimerization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
A novel gene causing a mendelian audiogenic mouse epilepsy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
PDZ domains and the organization of supramolecular complexes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
17 March 2017
Retinitis pigmentosa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
7 April 2017
Progress in demystification of adhesion G protein-coupled receptors
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Adhesion G protein-coupled receptors: signaling, pharmacology, and mechanisms of activation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Plasticity of PDZ domains in ligand recognition and signaling.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Phase transitions in the assembly of multivalent signalling proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Role for a novel Usher protein complex in hair cell synaptic maturation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Protein binding specificity versus promiscuity.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
A specificity map for the PDZ domain family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
PDZ domain binding selectivity is optimized across the mouse proteome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
29 September 2017
An update on the genetics of usher syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
3 June 2018
Single-amino acid substitutions alter the specificity and affinity of PDZ domains for their ligands.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4276872
retrieved
3 June 2018
Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1074%2FJBC.M114.610535
retrieved
21 January 2018
Vlgr1 knockout mice show audiogenic seizure susceptibility.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1074%2FJBC.M114.610535
retrieved
21 January 2018
Identifiers
DOI
10.1074/JBC.M114.610535
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4086200
OpenCitations bibliographic resource ID
4086200
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4086200
PMCID
4276872
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4086200
PubMed ID
25406310
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4086200
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