(Q33587467)

28 July 2017

title

Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss (English)

1 reference

28 July 2017

1 reference

GOA release 2020-03-11

Usherin

1 reference

Adhesion G protein-coupled receptor V1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Jun Yang

1

1 reference

28 July 2017

Xiaoqing Liu

2

1 reference

28 July 2017

Yun Zhao

3

1 reference

28 July 2017

Michael Adamian

4

1 reference

28 July 2017

Basil Pawlyk

5

1 reference

28 July 2017

Xun Sun

6

1 reference

28 July 2017

D Randy McMillan

7

1 reference

28 July 2017

M Charles Liberman

8

1 reference

28 July 2017

Tiansen Li

9

1 reference

28 July 2017

publication date

20 May 2010

1 reference

28 July 2017

1 reference

28 July 2017

volume

6

1 reference

28 July 2017

issue

5

1 reference

28 July 2017

page(s)

e1000955

1 reference

Creative Commons CC0 License

28 July 2017

copyright license

start time

20 May 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development

1 reference

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Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

21 June 2018

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Protein networks and complexes in photoreceptor cilia.

21 June 2018

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Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

21 June 2018

1 reference

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The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Whirlin complexes with p55 at the stereocilia tip during hair cell development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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 June 2018

1 reference

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The ciliary rootlet maintains long-term stability of sensory cilia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Elongation of hair cell stereocilia is defective in the mouse mutant whirler

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

WW and SH3 domains, two different scaffolds to recognize proline-rich ligands

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Usher syndrome: from genetics to pathogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

PDZ domains and the organization of supramolecular complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Periciliary structure of developing rat photoreceptor cells. A deep etch replica and freeze substitution study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Usher syndrome: definition and estimate of prevalence from two high-risk populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Fine structure of a periciliary ridge complex of frog retinal rod cells revealed by ultrahigh resolution scanning electron microscopy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000955

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000955

The birth and death of photoreceptors: the Friedenwald Lecture.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873905

Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Post-Golgi trafficking of rhodopsin in retinal photoreceptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20502675

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1000955

1 reference

28 July 2017

1 reference

28 July 2017

1 reference