(Q37323334)

19 August 2017

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism (English)

1 reference

19 August 2017

1 reference

1 reference

Waldo Herrera

10

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Samuel G. Jacobson

object named as

Samuel G Jacobson

1

0 references

Karen Steel

14

object named as

Karen P Steel

1 reference

19 August 2017

Artur V Cideciyan

2

1 reference

19 August 2017

Tomas S Aleman

3

1 reference

19 August 2017

Alexander Sumaroka

4

1 reference

19 August 2017

Alejandro J Roman

5

1 reference

19 August 2017

Leigh M Gardner

6

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19 August 2017

Haydn M Prosser

7

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19 August 2017

Monalisa Mishra

8

1 reference

19 August 2017

N Torben Bech-Hansen

9

1 reference

19 August 2017

Sharon B Schwartz

11

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19 August 2017

Xue-Zhong Liu

12

1 reference

19 August 2017

William J Kimberling

13

1 reference

19 August 2017

David S Williams

15

1 reference

19 August 2017

7 May 2008

1 reference

19 August 2017

Human Molecular Genetics

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19 August 2017

17

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19 August 2017

15

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19 August 2017

2405-2415

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Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Protein networks and complexes in photoreceptor cilia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

The changing face of Usher syndrome: clinical implications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Stable rhodopsin/arrestin complex leads to retinal degeneration in a transgenic mouse model of autosomal dominant retinitis pigmentosa.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Usher syndrome: molecular links of pathogenesis, proteins and pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Localization of nyctalopin in the mammalian retina.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Light in retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Mechanisms of photoreceptor death and survival in mammalian retina.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Myosin VIIa participates in opsin transport through the photoreceptor cilium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Usher syndrome in the city of Birmingham--prevalence and clinical classification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Human photoreceptor topography

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

SANS (USH1G) expression in developing and mature mammalian retina

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Negative electroretinograms in retinitis pigmentosa.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

2 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

20 October 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2733815

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

3 December 2018

1 reference

12 December 2020

Coincident onset of expression of myosin VIIa and opsin in the cilium of the developing photoreceptor cell

1 reference

12 December 2020

Visual acuity loss in patients with Usher's syndrome

1 reference

12 December 2020

Histopathology of the human retina in retinitis pigmentosa

1 reference

12 December 2020

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN140

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18463160

1 reference