Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells (Q24673776)

GOA release 2020-03-11

author name string

Xiaoqing Liu

1

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Oleg V Bulgakov

2

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Keith N Darrow

3

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Basil Pawlyk

4

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Michael Adamian

5

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M Charles Liberman

6

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Tiansen Li

Proceedings of the National Academy of Sciences of the United States of America

7

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language of work or name

English

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publication date

13 March 2007

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published in

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volume

104

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page(s)

4413-8

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issue

11

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cites work

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

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AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

7 April 2017

1 reference

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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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Usherin expression is highly conserved in mouse and human tissues

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

7 April 2017

1 reference

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

7 April 2017

1 reference

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

7 April 2017

1 reference

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Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

7 April 2017

1 reference

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

7 April 2017

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

7 April 2017

1 reference

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Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts

7 April 2017

1 reference

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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

7 April 2017

1 reference

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Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

7 April 2017

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Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

7 April 2017

1 reference

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A type VII myosin encoded by the mouse deafness gene shaker-1

7 April 2017

1 reference

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

7 April 2017

1 reference

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Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice

7 April 2017

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Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

A role for the Tubby-like protein 1 in rhodopsin transport

7 April 2017

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Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

7 April 2017

1 reference

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

7 April 2017

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Acceleration of age-related hearing loss by early noise exposure: evidence of a misspent youth

28 September 2017

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28 September 2017

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

28 September 2017

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Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

28 September 2017

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28 September 2017

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Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa.

28 September 2017

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28 September 2017

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Identification of novel USH2A mutations: implications for the structure of USH2A protein

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

Developmental morphology of the mouse inner ear. A scanning electron microscopic observation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

28 September 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610950104

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/10.1073%2FPNAS.0610950104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610950104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610950104

Mouse models for Usher syndrome 1B.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1838616

Rapid renewal of auditory hair bundles

28 November 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0610950104

Establishment of hair bundle polarity and orientation in the developing vestibular system of the mouse

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17360538

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/17360538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0610950104

1 reference

122413

ADS bibcode

2007PNAS..104.4413L

0 references

122413

1 reference

1 reference

1 reference